MG 1821 klein.JPG

Publications

543
Authors
Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A
Title
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism.
Journal title
Mov Disord
Year
2017
Volume
vol. 32:
Pages
p.576-584
Authors
Lill CM, Klein C
Title
What would Dr. James Parkinson think today? The role of genetics in Parkinson's disease.
Journal title
Mov Disord
Year
2017
Volume
vol. 32:
Pages
p.1115-1116
Authors
Kasten M, Marras C, Klein C
Title
Nonmotor Signs in Genetic Forms of Parkinson's Disease.
Journal title
Int Rev Neurobiol
Year
2017
Volume
vol. 133:
Pages
p.129-178
Authors
Lohmann K, Klein C
Title
Update on the Genetics of Dystonia.
Journal title
Curr Neurol Neurosci Rep
Year
2017
Volume
vol. 17:
Pages
p.26
Authors
Sörös P, Doñamayor N, Wittke C, Al-Khaled M, Brüggemann N, Münte TF
Title
Increase in Beta-Band Activity during Preparation for Overt Speech in Patients with Parkinson's Disease.
Journal title
Front Hum Neurosci
Year
2017
Volume
vol. 11:
Pages
p.371
Authors
Brandt VC, Moczydlowski A, Jonas M, Boelmans K, Bäumer T, Brass M, Münchau A
Title
Imitation inhibition in children with Tourette syndrome.
Journal title
J Neuropsychol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Brandt VC, Stock AK, Münchau A, Beste C
Title
Evidence for enhanced multi-component behaviour in Tourette syndrome - an EEG study.
Journal title
Sci Rep
Year
2017
Volume
vol. 7:
Pages
p.7722
Authors
Weissbach A, König IR, Hückelheim K, Pramstaller PP, Werner E, Brüggemann N, Tadic V, Lohmann K, Bäumer T, Münchau A, Kasten M, Klein C
Title
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Zittel S, Alvarez-Fischer D, Schweiger U, Klein C, Münchau A
Title
Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians.
Journal title
Neurology
Year
2017
Volume
vol. 89:
Pages
p.307
Authors
Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C
Title
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
Journal title
JAMA Neurol
Year
2017
Volume
vol. 74:
Pages
p.806-812
Authors
Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Bertram L, Kiel DP et al.
Title
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Journal title
Nat Commun
Year
2017
Volume
vol. 8:
Pages
p.80
Authors
Grütz K, Seibler P, Weissbach A, Lohmann K, Carlisle FA, Blake DJ, Westenberger A, Klein C, Grünewald A
Title
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Journal title
Sci Rep
Year
2017
Volume
vol. 7:
Pages
p.41156
Authors
Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R
Title
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.
Journal title
J Neural Transm
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Simon DK, Wu C, Tilley BC, Lohmann K, Klein C, Payami H, Wills AM, Aminoff MJ, Bainbridge J, Dewey R, Hauser RA, Schaake S, Schneider JS, Sharma S, Singer C, Tanner CM, Truong D, Wei P, Wong PS, Yang T
Title
Caffeine, creatine, GRIN2A and Parkinson's disease progression.
Journal title
J Neurol Sci
Year
2017
Volume
vol. 375:
Pages
p.355-359
Authors
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C
Title
Screening study of TUBB4A in isolated dystonia.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Westenberger A, Max C, Brüggemann N, Domingo A, Grütz K, Pawlack H, Weissbach A, Kühn AA, Spiegler J, Lang AE, Sperner J, Fung VS, Schallner J, Gillessen-Kaesbach G, Münchau A, Klein C
Title
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Journal title
J Pediatr
Year
2017
Volume
vol. 181:
Pages
p.306-308
Authors
Moss DJH, Pardiñas AF, Langbehn D, Lo K, Leavitt BR, Roos R, Durr A, Mead S; TRACK-HD investigators; REGISTRY investigators, Holmans P, Jones L, Tabrizi SJ
Title
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
Journal title
Lancet Neuro
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Abdulkadir M, Londono D, Gordon D, Fernandez TV, Brown LW, Münchau A, Dietrich A et al.
Title
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
Journal title
Eur Arch Psychiatry Clin Neurosci
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Weissbach A, Bäumer T, Pramstaller PP, Brüggemann N, Tadic V, Chen R, Klein C, Münchau A
Title
Abnormal premotor-motor interaction in heterozygous Parkin- and Pink1 mutation carriers.
Journal title
Clin Neurophysiol
Year
2017
Volume
vol. 128:
Pages
p.275-280
Authors
Vos M, Geens A, Böhm C, Deaulmerie L, Swerts J, Rossi M, Craessaerts K, Leites EP, Seibler P, Rakovic A, Lohnau T, De Strooper B, Fendt SM, Morais VA, Klein C, Verstreken P
Title
Cardiolipin promotes electron transport between ubiquinone and complex I to rescue PINK1 deficiency.
Journal title
J Cell Biol
Year
2017
Volume
vol. 216:
Pages
p.695-708
Authors
Gaig C, Graus F, Compta Y, Högl B, Bataller L, Brüggemann N, Giordana C, Heidbreder A, Kotschet K, Lewerenz J, Macher S, Martí MJ, Montojo T, Pérez-Pérez J, Puertas I, Seitz C, Simabukuro M, Téllez N, Wandinger KP, Iranzo A, Ercilla G, Sabater L, Santamaría J, Dalmau J
Title
Clinical manifestations of the anti-IgLON5 disease.
Journal title
Neurology
Year
2017
Volume
vol. 88:
Pages
p.1736-1743
Authors
Heldmann M, Münte TF, Paracka L, Beyer F, Brüggemann N, Saryyeva A, Rasche D, Krauss JK, Tronnier VM
Title
Human subthalamic nucleus - Automatic auditory change detection as a basis for action selection.
Journal title
Neuroscience
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Lohmann K, Masuho I, Patil DN, Baumann H, Hebert E, Steinrücke S, Trujillano D, Skamangas NK, Dobricic V, Hüning I, Gillessen-Kaesbach G, Westenberger A, Savic-Pavicevic D, Münchau A, Oprea G, Klein C, Rolfs A, Martemyanov KA
Title
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Journal title
Hum Mol Genet
Year
2017
Volume
vol. 26:
Pages
p.1078-1086
Authors
Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S
Title
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.
Journal title
J Clin Neurol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C
Title
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
Journal title
Mov Disord
Year
2017
Volume
vol. 32:
Pages
p.724-725
Authors
Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Klein C, Schüle R et al.
Title
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
Journal title
Brain
Year
2017
Volume
vol. 140:
Pages
p.287-305
Authors
Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A
Title
Dysfunctions in striatal microstructure can enhance perceptual decision making through deficits in predictive coding.
Journal title
Brain Struct Funct
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Steinlechner S, Hagenah J, Rumpf HJ, Meyer C, John U, Bäumer T, Brüggemann N, Kasten M, Münchau A, Klein C, Lencer R
Title
Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.
Journal title
J Neurol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Berman BD, Junker J, Shelton E, Sillau SH, Jinnah HA, Perlmutter JS, Espay AJ, Jankovic J, Vidailhet M, Bonnet C, Ondo W, Malaty IA, Rodríguez R, McDonald WM, Marsh L, Zurowski M, Bäumer T, Brüggemann N
Title
Psychiatric associations of adult-onset focal dystonia phenotypes.
Journal title
J Neurol Neurosurg Psychiatry
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A
Title
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.
Journal title
J Neurol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Zanon A, Kalvakuri S, Rakovic A, Foco L, Guida M, Schwienbacher C, Serafin A, Rudolph F, Trilck M, Grünewald A, Stanslowsky N, Wegner F, Giorgio V, Lavdas AA, Bodmer R, Pramstaller PP, Klein C, Hicks AA, Pichler I, Seibler P
Title
SLP-2 interacts with Parkin in mitochondria and prevents mitochondrial dysfunction in Parkin-deficient human iPSC-derived neurons and Drosophila.
Journal title
Hum Mol Genet
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Tadic V, Klein C, Hinrichs F, Münchau A, Lohmann K, Brüggemann N
Title
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
Journal title
J Neurol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Stieber C, Mücke M, Windheuser IC, Grigull L, Klawonn F, Tunc S, Münchau A, Klockgether T
Title
[On the fast track to diagnosis : Recommendations for patients without a diagnosis].
Journal title
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
Year
2017
Volume
vol. -:
Pages
p.Epub ahead of print
Authors
Balck A, Klein C
Title
Reduced penetrance of Leucine-rich repeat kinase 2 mutations: Discovering genetic factors of endogenous disease protection.
Journal title
Mov Disord
Year
2017
Volume
vol. -:
Pages
p.Epub ahead of print
Authors
Grünewald A, Rygiel KA, Hepplewhite PD, Morris CM, Picard M, Turnbull DM
Title
Mitochondrial DNA depletion in respiratory chain-deficient Parkinson disease neurons.
Journal title
Ann Neurol
Year
2016
Volume
vol. 79:
Pages
p.366-378
Authors
Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K
Title
RAB39B mutations are a rare finding in Parkinson disease patients.
Journal title
Parkinsonism Relat Disord
Year
2016
Volume
vol. 23:
Pages
p.116-117
Authors
Koschmidder E, Weissbach A, Brüggemann N, Kasten M, Klein C, Lohmann K
Title
A nonsense mutation in CHCHD2 in a patient with Parkinson disease.
Journal title
Neurology
Year
2016
Volume
vol. 86:
Pages
p.577-579
Authors
Grünewald A, Klein C
Title
Urinary LRRK2 phosphorylation: Penetrating the thicket of Parkinson disease?
Journal title
Neurology
Year
2016
Volume
vol. 86:
Pages
p.984-985
Authors
Domingo A, Amar D, Grütz K, Lee LV, Rosales R, Brüggemann N, Jamora RD, Cutiongco-Dela Paz E, Rolfs A, Dressler D, Walter U, Krainc D, Lohmann K, Shamir R, Klein C, Westenberger A
Title
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.
Journal title
Cell Mol Life Sci
Year
2016
Volume
vol. 73:
Pages
p.3205-3215
Authors
Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K, Altenmüller E, Klein C, Münchau A
Title
Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?
Journal title
Parkinsonism Relat Disord
Year
2016
Volume
vol. 25:
Pages
p.33-38
Authors
Domingo A, Erro R, Lohmann K
Title
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Journal title
Mov Disord
Year
2016
Volume
vol. 31:
Pages
p.471-477
Authors
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS
Title
Phenotypic insights into ADCY5-associated disease.
Journal title
Mov Disord
Year
2016
Volume
vol. 31:
Pages
p.1033-1040
Authors
Marras C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Lohmann K, Kostic V, Klein C
Title
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Journal title
Mov Disord
Year
2016
Volume
vol. 31:
Pages
p.436-457
Authors
Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L
Title
Launching the movement disorders society genetic mutation database (MDSGene).
Journal title
Mov Disord
Year
2016
Volume
vol. 31:
Pages
p.607-609
Authors
Lee PC, Raaschou-Nielsen O, Lill CM, Bertram L, Sinsheimer JS, Hansen J, Ritz B
Title
Gene-environment interactions linking air pollution and inflammation in Parkinson's disease.
Journal title
Environ Res
Year
2016
Volume
vol. 151:
Pages
p.713-720
Authors
Grütz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A
Title
Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2.
Journal title
Mov Disord
Year
2016
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Klein C, Lang A, van de Warrenburg BP, Sue CM, Tabrizi SJ, Bertram L, Mercimek-Mahmutoglu S, Ebrahimi-Fakhari D, Warner TT, Durr A, Assmann B, Kostic V, Lohmann K, Marras C; International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders
Title
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
Journal title
Mov Disord
Year
2016
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Klein C, Löchte T, Delamonte SM, Braenne I, Hicks AA, Zschiedrich-Jansen K, Simon DK, Friedman JH, Lohmann K
Title
PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical Features and Neuropathology.
Journal title
Mov Disord
Year
2016
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Norris SA, Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RL, Malaty IA, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo WG, Shih LC, Fox SH, Berardelli A, Testa CM, Cheng FC, Truong D, Nahab FB, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS
Title
Clinical and demographic characteristics related to onset site and spread of cervical dystonia.
Journal title
Mov Disord
Year
2016
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Clapier CR, Kasten MM, Parnell TJ, Viswanathan R, Szerlong H, Sirinakis G, Zhang Y, Cairns BR
Title
Regulation of DNA Translocation Efficiency within the Chromatin Remodeler RSC/Sth1 Potentiates Nucleosome Sliding and Ejection.
Journal title
Mol Cell
Year
2016
Volume
vol. 62:
Pages
p.453-461
Authors
Markopoulou K, Chase BA, Robowski P, Strongosky A, Narożańska E, Sitek EJ, Berdynski M, Barcikowska M, Baker MC, Rademakers R, Sławek J, Klein C, Hückelheim K, Kasten M, Wszolek ZK
Title
Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction.
Journal title
PLoS One
Year
2016
Volume
vol. 11:
Pages
p.e0165112
Authors
Okbay A, Baselmans BM, De Neve JE, Turley P, Nivard MG, Fontana MA, Meddens SF, Linnér RK, Rietveld CA, Derringer J, Gratten J, Lee JJ, Liu JZ, de Vlaming R, Ahluwalia TS, Buchwald J, Cavadino A, Frazier-Wood AC, Furlotte NA, Garfield V, Geisel MH, Gonzalez JR, Haitjema S, Karlsson R, van der Laan SW, Ladwig KH, Lahti J, van der Lee SJ, Lind PA, Liu T, Matteson L, Mihailov E, Miller MB, Minica CC, Nolte IM, Mook-Kanamori D, van der Most PJ, Oldmeadow C, Qian Y, Raitakari O, Rawal R, Realo A, Rueedi R, Schmidt B, Smith AV, Stergiakouli E, Tanaka T, Taylor K, Wedenoja J, Wellmann J, Westra HJ, Willems SM, Zhao W; LifeLines Cohort Study, Amin N, Bakshi A, Boyle PA, Cherney S, Cox SR, Davies G, Davis OS, Ding J, Direk N, Eibich P, Emeny RT, Fatemifar G, Faul JD, Ferrucci L, Forstner A, Gieger C, Gupta R, Harris TB, Harris JM, Holliday EG, Hottenga JJ, De Jager PL, Kaakinen MA, Kajantie E, Karhunen V, Kolcic I, Kumari M, Launer LJ, Franke L, Li-Gao R, Koini M, Loukola A, Marques-Vidal P, Montgomery GW, Mosing MA, Paternoster L, Pattie A, Petrovic KE, Pulkki-Råback L, Quaye L, Räikkönen K, Rudan I, Scott RJ, Smith JA, Sutin AR, Trzaskowski M, Vinkhuyzen AE, Yu L, Zabaneh D, Attia JR, Bennett DA, Berger K, Bertram L, Boomsma DI, Snieder H, Chang SC, Cucca F, Deary IJ, van Duijn CM, Eriksson JG, Bültmann U, de Geus EJ, Groenen PJ, Gudnason V, Hansen T, Hartman CA, Haworth CM, Hayward C, Heath AC, Hinds DA, Hyppönen E, Iacono WG, Järvelin MR, Jöckel KH, Kaprio J, Kardia SL, Keltikangas-Järvinen L, Kraft P, Kubzansky LD, Lehtimäki T, Magnusson PK, Martin NG, McGue M, Metspalu A, Mills M, de Mutsert R, Oldehinkel AJ, Pasterkamp G, Pedersen NL, Plomin R, Polasek O, Power C, Rich SS, Rosendaal FR, den Ruijter HM, Schlessinger D, Schmidt H, Svento R, Schmidt R, Alizadeh BZ, Sørensen TI, Spector TD, Steptoe A, Terracciano A, Thurik AR, Timpson NJ, Tiemeier H, Uitterlinden AG, Vollenweider P, Wagner GG, Weir DR, Yang J, Conley DC, Smith GD, Hofman A, Johannesson M, Laibson DI, Medland SE, Meyer MN, Pickrell JK, Esko T, Krueger RF, Beauchamp JP, Koellinger PD, Benjamin DJ, Bartels M, Cesarini D
Title
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.
Journal title
Nat Genet
Year
2016
Volume
vol. 48:
Pages
p.624-633
Authors
Andlauer TF, Buck D, Antony G, Bayas A, Bechmann L, Bertram L, Lill CM, Müller-Myhsok B et al.
Title
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
Journal title
Sci Adv
Year
2016
Volume
vol. 2:
Pages
p.e1501678
Authors
Brüggemann N, Heldmann M, Sprenger A, Repenthin J, Münte TF
Title
Acute amnestic syndrome due to MDMA exposure.
Journal title
J Neurol
Year
2016
Volume
vol. 263:
Pages
p.1022-1023
Authors
Huttenlocher J, Krüger R, Capetian P, Lohmann K, Brockmann K, Csoti I, Klein C, Berg D, Gasser T, Bonin M, Riess O, Bauer P
Title
EIF4G1 is neither a strong nor a common risk factor for Parkinson's disease: evidence from large European cohorts.
Journal title
J Med Genet
Year
2015
Volume
vol. 52:
Pages
p.37-41
Authors
Tunc S, Graf J, Tadic V, Bruggemann N, Schmidt A, Al-Khaled M, Wolff S, Vollstedt EJ, Lorwin A, Hampf J, Piskol L, Klein C, Hagenah J, Kasten M
Title
A population-based study on combined markers for early Parkinson's disease.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.531-537
Authors
McCann H, Fung VS, Klein C, Halliday GM
Title
Unusual alpha-synuclein and cerebellar pathologies in a case of hereditary myoclonus-dystonia without SGCE mutation.
Journal title
Neuropathol Appl Neurobiol
Year
2015
Volume
vol. 41:
Pages
p.837-842
Authors
Freundlieb N, Backhaus W, Bruggemann N, Gerloff C, Klein C, Pinnschmidt HO, Hummel FC
Title
Differential effects of BDNF val66met in repetitive associative learning paradigms.
Journal title
Neurobiol Learn Mem
Year
2015
Volume
vol. 123:
Pages
p.11-17
Authors
Weissbach A, Baumer T, Rosales R, Lee LV, Bruggemann N, Domingo A, Westenberger A, Jamora RD, Diesta CC, Brandt V, Tadic V, Zittel S, Klein C, Munchau A
Title
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.873-875
Authors
Kasten M, Klein C
Title
Genetic risk loci for Parkinson's disease: Moving from state to trait?
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.747-749
Authors
Rakovic A, Seibler P, Klein C
Title
iPS models of Parkin and PINK1.
Journal title
Biochem Soc Trans
Year
2015
Volume
vol. 43:
Pages
p.302-307
Authors
Vos M, Verstreken P, Klein C
Title
Stimulation of electron transport as potential novel therapy in Parkinson's disease with mitochondrial dysfunction.
Journal title
Biochem Soc Trans
Year
2015
Volume
vol. 43:
Pages
p.275-279
Authors
Nibbeling E, Schaake S, Tijssen MA, Weissbach A, Groen JL, Altenmuller E, Verbeek DS, Lohmann K
Title
Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.
Journal title
J Neurol
Year
2015
Volume
vol. 262:
Pages
p.1340-1343
Authors
Sixel-Doring F, Lohmann K, Klein C, Trenkwalder C, Mollenhauer B
Title
REM sleep-associated motor behaviors in Parkinson's disease patients with heterozygous Parkin mutations.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.597-598
Authors
Bertram L, Klein C
Title
Probing the exome in Alzheimer disease and other neurodegenerative disorders.
Journal title
JAMA Neurol
Year
2015
Volume
vol. 72:
Pages
p.389-391
Authors
Tadic V, Westenberger A, Domingo A, Alvarez-Fischer D, Klein C, Kasten M
Title
Primary familial brain calcification with known gene mutations: a systematic review and challenges of phenotypic characterization.
Journal title
JAMA Neurol
Year
2015
Volume
vol. 72:
Pages
p.460-467
Authors
Bruggemann N, Kuhn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wachter T, Deuschl G, Kruger R, Kupsch A, Munchau A, Lohmann K, Volkmann J, Klein C
Title
Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia.
Journal title
Neurology
Year
2015
Volume
vol. 84:
Pages
p.895-903
Authors
Domingo A, Westenberger A, Lee LV, Brænne I, Liu T, Vater I, Rosales R, Jamora RD, Pasco PM, Cutiongco-Dela Paz EM, Freimann K, Schmidt TG, Dressler D, Kaiser FJ, Bertram L, Erdmann J, Lohmann K, Klein C
Title
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
Journal title
Eur J Hum Genet
Year
2015
Volume
vol. 23:
Pages
p.1334-1340
Authors
Wortmann SB, Zietkiewicz S, Kousi M, Szklarczyk R, Haack, TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lucke T, Ounap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA
Title
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Journal title
Am J Hum Genet
Year
2015
Volume
vol. 96:
Pages
p.245-257
Authors
Marz M, Ferracin M, Klein C
Title
MicroRNAs as biomarker of Parkinson disease? Small but mighty.
Journal title
Neurology
Year
2015
Volume
vol. 84:
Pages
p.636-638
Authors
Weissbach A, Bäumer T, Brüggemann N, Tadic V, Zittel S, Cheng B, Thomalla G, Klein C, Münchau A
Title
Premotor-motor excitability is altered in dopa-responsive dystonia.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1705-1709
Authors
Dobričić V, Kresojević N, Žarković M, Tomić A, Marjanović A, Westenberger A, Cvetković D, Svetel M, Novaković I, Kostić VS
Title
Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited.
Journal title
Parkinsonism Relat Disord
Year
2015
Volume
vol. 21:
Pages
p.1256-1259
Authors
Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium
Title
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Journal title
Neurology
Year
2015
Volume
vol. 85:
Pages
p.1283-1292
Authors
Kumar KR, Vulinovic F, Lohmann K, Park JS, Schaake S, Sue CM, Klein C
Title
Mutations in TUBB4A and spastic paraplegia.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1857-1858
Authors
Kritzinger C, Vollstedt EJ, Hückelheim K, Lorwin A, Graf J, Tunc S, Klein C, Kasten M
Title
Qualitative Characteristics of Depression in Parkinson's Patients and Controls.
Journal title
Behav Neurol
Year
2015
Volume
vol. :
Pages
p.[Epub ahead of print]
Authors
Ganos C, Asmuss L, Bongert J, Brandt V, Münchau A, Haggard P
Title
Volitional action as perceptual detection: predictors of conscious intention in adolescents with tic disorders.
Journal title
Cortex
Year
2015
Volume
vol. 64:
Pages
p.47-54
Authors
Westenberger A, Klein C
Title
A new gene for primary familial brain calcification: The importance of phosphate homeostasis.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1213
Authors
Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C
Title
The evolving spectrum of PRRT2-associated paroxysmal diseases.
Journal title
Brain
Year
2015
Volume
vol. 138:
Pages
p.3476-3495
Authors
Nürnberger L, Klein C, Baudrexel S, Roggendorf J, Hildner M, Chen S, Kang J, Hilker R, Hagenah J
Title
Ultrasound motion analysis reveals bilateral arm hypokinesia in heterozygous PINK1 mutation carriers.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.386-392
Authors
Schmitt I, Kaut O, Khazneh H, deBoni L, Ahmad A, Berg D, Klein C, Fröhlich H, Wüllner U
Title
L-DOPA increases α-synuclein DNA methylation in Parkinson’s disease patients in vivo and in vitro.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1794-1801
Authors
Erro R, Klein C
Title
DYT2 Revealed: Hippocalcin Mutations Cause Autosomal-Recessive Isolated Dystonia.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1725
Authors
Lill CM, Hansen J, Olsen JH, Binder H, Ritz B, Bertram L
Title
Impact of Parkinson's disease risk loci on age at onset.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.847-850
Authors
Lill CM, Bertram L
Title
Probing the epigenome by EWAS: a new era in brain disease research.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.197
Authors
Ganos C, Bongert J, Asmuss L, Martino D, Haggard P, Münchau A
Title
The somatotopy of tic inhibition: Where and how much?
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1184-1189
Authors
Tübing J, Münchau A
Title
Cortical GABAergic activity: A mediator of tic control?
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.339
Authors
Leypold F, Münchau A
Title
Gardening gone awry: Aberrant spine pruning disrupts long-range networks.
Journal title
Mov Disord
Year
2015
Volume
vol. 30:
Pages
p.1621
Authors
Zittel S, Moll CK, Gulberti A, Tadic V, Rasche D, Bäumer T, Fellbrich A, Brüggemann N, Engel AK, Tronnier V, Hamel W, Münchau A
Title
Pallidal deep brain stimulation in Huntington's disease.
Journal title
Parkinsonism Relat Disord
Year
2015
Volume
vol. 21:
Pages
p.1105-1108
Authors
Tronnier VM, Domingo A, Moll CK, Rasche D, Mohr C, Rosales R, Capetian P, Jamora RD, Lee LV, Münchau A, Diesta CC, Tadic V, Klein C, Brüggemann N, Moser A
Title
Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism.
Journal title
Parkinsonism Relat Disord
Year
2015
Volume
vol. 21:
Pages
p.954-959
Authors
Kresojević N, Janković M, Petrović I, Kumar KR, Dragašević N, Dobričić V, Novaković I, Svetel M, Klein C, Pekmezović T, Kostić VS
Title
Presenting symptoms of GBA-related Parkinson's disease.
Journal title
Parkinsonism Relat Disord
Year
2015
Volume
vol. 21:
Pages
p.804-807
Authors
Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K
Title
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
Journal title
J Neurol
Year
2015
Volume
vol. 262:
Pages
p.187-193
Authors
Krause P, Brüggemann N, Völzmann S, Horn A, Kupsch A, Schneider GH, Lohmann K, Kühn A
Title
Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.
Journal title
J Neurol
Year
2015
Volume
vol. 262:
Pages
p.2739-2744
Authors
Zittel S, Helmich RC, Demiralay C, Münchau A, Bäumer T
Title
Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia.
Journal title
J Neurol
Year
2015
Volume
vol. 262:
Pages
p.1883-1889
Authors
Zittel S, Ganos C, Münchau A
Title
Fatal paroxysmal non-kinesigenic dyskinesia.
Journal title
Eur J Neurol
Year
2015
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Lill CM, Rengmark A, Pihlstrøm L, Fogh I, Shatunov A, Sleiman PM, Wang LS, Liu T, Lassen CF, Meissner E, Alexopoulos P, Calvo A, Chio A, Dizdar N, Faltraco F, Forsgren L, Kirchheiner J, Kurz A, Larsen JP, Liebsch M et al
Title
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Journal title
Alzheimers Dement
Year
2015
Volume
vol. 11:
Pages
p.1407-1416
Authors
Antonopoulou K, Stefanaki I, Lill CM, Chatzinasiou F, Kypreou KP, Karagianni F, Athanasiadis E, Spyrou GM, Ioannidis JP, Bertram L, Evangelou E, Stratigos AJ
Title
Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: the MelGene database.
Journal title
J Invest Dermatol
Year
2015
Volume
vol. 135:
Pages
p.1074-1079
Authors
Werner R, Merz H, Birnbaum W, Marshall L, Schröder T, Reiz B, Kavran JM, Bäumer T, Capetian P, Hiort O
Title
46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome-Sequencing.
Journal title
J Clin Endocrinol Metab
Year
2015
Volume
vol. 100:
Pages
p.1022-1029
Authors
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, et al
Title
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia.
Journal title
Am J Hum Genet
Year
2015
Volume
vol. 96:
Pages
p.938-947
Authors
Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P et al
Title
Genome-wide significant association with seven novel multiple sclerosis risk loci.
Journal title
J Med Genet
Year
2015
Volume
vol. 52:
Pages
p.848-855
Authors
Moutsianas L, Jostins L, Beecham AH, Dilthey AT, Xifara DK, Ban M, Shah TS, Patsopoulos NA, Alfredsson L, Anderson CA, Attfield KE, Baranzini SE, Barrett J, Binder TM, Booth D, Buck D, Celius EG, Cotsapas C, D'Alfonso S, Dendrou CA ,Donnelly P, Dubois B, Fontaine B, Lar Fugger L, Goris A, Gourraud PA, Graetz C, Hemmer B, Hillert J; International IBD Genetics Consortium (IIBDGC), Kockum I, Leslie S, Lill CM, et al
Title
Class II HLA interactions modulate genetic risk for multiple sclerosis.
Journal title
Nat Genet
Year
2015
Volume
vol. 47:
Pages
p.1107-1113
Authors
Park S, Lee S, Lee Y, Herold C, Hooli B, Mullin K, Park T, Park C, Bertram L, Lange C, Tanzi R, Won S
Title
Adjusting heterogeneous ascertainment bias for genetic association analysis with extended families.
Journal title
BMC Med Genet
Year
2015
Volume
vol. 16:
Pages
p.62
Authors
Munsie LN, Milnerwood AJ, Seibler P (equally contributed), Beccano-Kelly DA, Tatarnikov I, Khinda J, Volta M, Kadgien C, Cao LP, Tapia L, Klein C, Farrer MJ
Title
Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's Disease VPS35 mutation p.D620N.
Journal title
Hum Mol Genet
Year
2015
Volume
vol. 24:
Pages
p.1691-1703
Authors
Mencacci NE, R'bibo L, Bandres-Ciga S, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Batla A, Bhatia KP, Pittman AM, Hardy J, Weissbach A, Klein C, et al
Title
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Journal title
Hum Mol Genet
Year
2015
Volume
vol. 24:
Pages
p.5326-5329
Authors
Morrison M, Klein C, Clemann N, Collier DA, Hardy J, Heiβerer B, Cader MZ, Graf M, Kaye J
Title
StemBANCC: Governing Access to Material and Data in a Large Stem Cell Research Consortium.
Journal title
Stem Cell Rev
Year
2015
Volume
vol. 111:
Pages
p.681-687
Authors
Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I, Nutile T, Jackson AU, Schurmann C, Smith AV, Zhang W, Okada Y, Stančáková A, Faul JD, Zhao W, Bartz TM, Concas MP, Franceschini N, Enroth S, Vitart V, Trompet S, Guo X, Chasman DI, O'Connel JR, Corre T, Nongmaithem SS, Chen Y, Mangino M, Ruggiero D, Traglia M, Farmaki AE, Kacprowski T, Bjonnes A, van der Spek A, Wu Y, Giri AK, Yanek LR, Wang L, Hofer E, Rietveld CA, McLeod O, Cornelis MC, Pattaro C, Verweij N, Baumbach C, Abdellaoui A, Warren HR, Vuckovic D, Mei H, Bouchard C, Perry JR, Cappellani S, Mirza SS, Benton MC, Broeckel U, Medland SE, Lind PA, Malerba G, Drong A, Yengo L, Bielak LF, Zhi D, van der Most PJ, Shriner D, Mägi R, Hemani G, Karaderi T, Wang Z, Liu T, Demuth I, Zhao JH, Meng W, Lataniotis L, van der Laan SW, Bradfield JP, Wood AR, Bonnefond A, Ahluwalia TS, Hall LM, Salvi E, Yazar S, Carstensen L, de Haan HG, Abney M, Afzal U, Allison MA, Amin N, Asselbergs FW, Bakker SJ, Barr RG, Baumeister SE, Benjamin DJ, Bergmann S, Boerwinkle E, Bottinger EP, Campbell A, Chakravarti A, Chan Y, Chanock SJ, Chen C, Chen YD, Collins FS, Connell J, Correa A, Cupples LA, Smith GD, Davies G, Dörr M, Ehret G, Ellis SB, Feenstra B, Feitosa MF, Ford I, Fox CS, Frayling TM, Friedrich N, Geller F, Scotland G, Gillham-Nasenya I, Gottesman O, Graff M, Grodstein F, Gu C, Haley C, Hammond CJ, Harris SE, Harris TB, Hastie ND, Heard-Costa NL, Heikkilä K, Hocking LJ, Homuth G, Hottenga JJ, Huang J, Huffman JE, Hysi PG, Ikram MA, Ingelsson E, Joensuu A, Johansson Å, Jousilahti P, Jukema JW, Kähönen M, Kamatani Y, Kanoni S, Kerr SM, Khan NM, Koellinger P, Koistinen HA, Kooner MK, Kubo M, Kuusisto J, Lahti J, Launer LJ, Lea RA, Lehne B, Lehtimäki T, Liewald DC, Lind L, Loh M, Lokki ML, London SJ, Loomis SJ, Loukola A, Lu Y, Lumley T, Lundqvist A, Männistö S, Marques-Vidal P, Masciullo C, Matchan A, Mathias RA, Matsuda K, Meigs JB, Meisinger C, Meitinger T, Menni C, Mentch FD, Mihailov E, Milani L, Montasser ME, Montgomery GW, Morrison A, Myers RH, Nadukuru R, Navarro P, Nelis M, Nieminen MS, Nolte IM, O'Connor GT, Ogunniyi A, Padmanabhan S, Palmas WR, Pankow JS, Patarcic I, Pavani F, Peyser PA, Pietilainen K, Poulter N, Prokopenko I, Ralhan S, Redmond P, Rich SS, Rissanen H, Robino A, Rose LM, Rose R, Sala C, Salako B, Salomaa V, Sarin AP, Saxena R, Schmidt H, Scott LJ, Scott WR, Sennblad B, Seshadri S, Sever P, Shrestha S, Smith BH, Smith JA, Soranzo N, Sotoodehnia N, Southam L, Stanton AV, Stathopoulou MG, Strauch K, Strawbridge RJ, Suderman MJ, Tandon N, Tang ST, Taylor KD, Tayo BO, Töglhofer AM, Tomaszewski M, Tšernikova N, Tuomilehto J, Uitterlinden AG, Vaidya D, van Hylckama Vlieg A, van Setten J, Vasankari T, Vedantam S, Vlachopoulou E, Vozzi D, Vuoksimaa E, Waldenberger M, Ware EB, Wentworth-Shields W, Whitfield JB, Wild S, Willemsen G, Yajnik CS, Yao J, Zaza G, Zhu X; BioBank Japan Project, Salem RM, Melbye M, Bisgaard H, Samani NJ, Cusi D, Mackey DA, Cooper RS, Froguel P, Pasterkamp G, Grant SF, Hakonarson H, Ferrucci L, Scott RA, Morris AD, Palmer CN, Dedoussis G, Deloukas P, Bertram L, Lindenberger U, Berndt SI, Lindgren CM, Timpson NJ, Tönjes A, Munroe PB, Sørensen TI, Rotimi CN, Arnett DK, Oldehinkel AJ, Kardia SL, Balkau B, Gambaro G, Morris AP, Eriksson JG, Wright MJ, Martin NG, Hunt SC, Starr JM, Deary IJ, Griffiths LR, Tiemeier H, Pirastu N, Kaprio J, Wareham NJ, Pérusse L, Wilson JG, Girotto G, Caulfield MJ, Raitakari O, Boomsma DI, Gieger C, van der Harst P, Hicks AA, Kraft P, Sinisalo J, Knekt P, Johannesson M, Magnusson PK, Hamsten A, Schmidt R, Borecki IB, Vartiainen E, Becker DM, Bharadwaj D, Mohlke KL, Boehnke M, van Duijn CM, Sanghera DK, Teumer A, Zeggini E, Metspalu A, Gasparini P, Ulivi S, Ober C, Toniolo D, Rudan I, Porteous DJ, Ciullo M, Spector TD, Hayward C, Dupuis J, Loos RJ, Wright AF, Chandak GR, Vollenweider P, Shuldiner AR, Ridker PM, Rotter JI, Sattar N, Gyllensten U, North KE, Pirastu M, Psaty BM, Weir DR, Laakso M, Gudnason V, Takahashi A, Chambers JC, Kooner JS, Strachan DP, Campbell H, Hirschhorn JN, Perola M, Polašek O, Wilson JF
Title
Directional dominance on stature and cognition in diverse human populations.
Journal title
Nature
Year
2015
Volume
vol. 523:
Pages
p.459-462
Authors
Hooli BV, Lill CM, Mullin K, Qiao D, Lange C, Bertram L, Tanzi RE
Title
PLD3 gene variants and Alzheimer's disease.
Journal title
Nature
Year
2015
Volume
vol. 520:
Pages
p.7-8
Authors
Peiker I, Schneider TR, Milne E, Schöttle D, Vogeley K, Münchau A, Schunke O, Siegel M, Engel AK, David N
Title
Stronger Neural Modulation by Visual Motion Intensity in Autism Spectrum Disorders.
Journal title
PLoS One
Year
2015
Volume
vol. [Epub ahead of print]:
Pages
p.
Authors
Valadas JS, Vos M, Verstreken P
Title
Therapeutic strategies in Parkinson’s disease: what we have learned from animal models.
Journal title
Annals of the New York Academy of Sciences
Year
2015
Volume
vol. 1338:
Pages
p.16-37
Authors
Gulberti A, Moll CK, Hamel W, Buhmann C, Koeppen JA, Boelmans K, Zittel S, Gerloff C, Westphal M, Schneider TR, Engel AK
Title
Predictive timing function of cortical beta oscillations are impaired in Parkinson`s disease and influenced by L-Dopa and deep brain stimulation of the subthalamic nucleus.
Journal title
Neuroimage Clin
Year
2015
Volume
vol. 9:
Pages
p.436-449
Authors
Zeuner K, Knutzen A, Granert O, Sablowsky S, Götz J, Wolff A, Jansen O, Dressler S, Schneider SA, Klein C, Deuschl G, van Eimeren T, Witt K
Title
Altered brain activation in a reversal learning task unmasks adaptive changes in cognitive control in writer's cramp
Journal title
Neuroimage Clin
Year
2015
Volume
vol. 10:
Pages
p.63-70
Authors
Schrewe L, Lill CM, Liu T, Salmen A, Gerdes LA, Guillot-Noel L, Akkad DA, Blaschke P, Graetz C, Hoffjan S, Kroner A, Demir S, Böhme A, Rieckmann P, ElAli A, Hagemann N, Hermann DM, Cournu-Rebeix I, Zipp F, Kümpfel T et al
Title
Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS
Journal title
J Neuroinflammation
Year
2015
Volume
vol. 12:
Pages
p.234
Authors
Zittel S, Heinbokel C, van der Vegt JP, Niessen E, Buhmann C, Gerloff C, Siebner HR, Münchau A, Bäumer T
Title
Effects of dopaminergic treatment on functional cortico-cortical connectivity in Parkinson's disease.
Journal title
Exp Brain Res
Year
2015
Volume
vol. 233:
Pages
p.329-337
Authors
Buse J, Dörfel D, Lange H, Ehrlich S, Münchau A, Roessner V
Title
Harmonic expectancy violations elicit not-just-right-experiences: A paradigm for investigating obsessive-compulsive characteristics?
Journal title
Cogn Neurosci
Year
2015
Volume
vol. 6:
Pages
p.8-15
Authors
Brandt VC, Lynn MT, Obst M, Brass M, Münchau A
Title
Visual feedback of own tics increases tic frequency in patients with Tourette's syndrome.
Journal title
Cogn Neurosci
Year
2015
Volume
vol. 6:
Pages
p.1-7
Authors
Steffen A, Hasselbacher K, Brüggemann N, Heinrichs S, Schönweiler R, Wollenberg B
Title
Botulinumtoxin bei funktioneller Hypersalivation – alles eine Frage der Dosis?
Journal title
Laryngorhinootologie
Year
2015
Volume
vol. 94:
Pages
p.378-382
Authors
Dietrich A, Fernandez TV, King RA, State MW, Tischfield JA, Hoekstra PJ, Heiman GA; TIC Genetics Collaborative Group
Title
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.
Journal title
Eur Child Adolesc Psychiatry
Year
2015
Volume
vol. 24:
Pages
p.141-151
Authors
Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, Hofer E, Ibrahim-Verbaas CA, Kirin M, Lahti J, van der Lee SJ, Le Hellard S, Liu T, Marioni RE, Oldmeadow C, Postmus I, Smith AV, Smith JA, Thalamuthu A, Thomson R, Vitart V, Wang J, Yu L, Zgaga L, Zhao W, Boxall R, Harris SE, Hill WD, Liewald DC, Luciano M, Adams H, Ames D, Amin N, Amouyel P, Assareh AA, Au R, Becker JT, Beiser A, Berr C, Bertram L, Boerwinkle E, et al
Title
Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53949).
Journal title
Mol Psychiatry
Year
2015
Volume
vol. 20:
Pages
p.183-192
Authors
Steinlechner S, Wenzel L, Kasten M, Tadic V, Brüggemann N, Hagenah J, Rumpf HJ, Klein C, Lencer R
Title
Evaluation of Psychiatric Disorders on the Basis of a SCID Screening.
Journal title
Fortschr Neurol Psychiatr
Year
2015
Volume
vol. 83:
Pages
p.499-505
Authors
Bellander M, Bäckman L, Liu T, Schjeide BM, Bertram L, Schmiedek F, Lindenberger U, Lövdén M
Title
Lower baseline performance but greater plasticity of working memory for carriers of the val allele of the COMT Val¹⁵⁸Met polymorphism.
Journal title
Neuropsychology
Year
2015
Volume
vol. 29:
Pages
p.247-254
Authors
Misirlisoy E, Brandt V, Ganos C, Tubing J, Munchau A, Haggard P
Title
The relation between attention and tic generation in Tourette syndrome.
Journal title
Neuropsychology
Year
2015
Volume
vol. 29:
Pages
p.658-665
Authors
Dankowski T, Buck D, Andlauer TF, Antony G, Bayas A, Bechmann L, Berthele A, Bettecken T, Chan A, Franke A, Gold R, Graetz C, Haas J, Hecker M, Herms S, Infante-Duarte C, Jöckel KH, Kieseier BC, Knier B, Knop M, Kümpfel T, Lichtner P, Lieb W, Lill CM et al
Title
Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array.
Journal title
Genet Epidemiol
Year
2015
Volume
vol. 39:
Pages
p.601-608
Authors
Lerche S, Liepelt-Scarfone I, Alves G, Barone P, Behnke S, Ben-Shlomo Y, Berendse H, Burn D, Dodel R, Grosset D, Heinzel S, Hu M, Kasten M, Krüger R, Maetzler W, Moccia M, Mollenhauer B, Oertel W, Roeben B, Sünkel U, Walter U, Wirdefeldt K, Berg D
Title
Methods in Neuroepidemiology Characterization of European Longitudinal Cohort Studies in Parkinson's Disease--Report of the JPND Working Group BioLoC-PD.
Journal title
Neuroepidemiology
Year
2015
Volume
vol. 45:
Pages
p.282-297
Authors
Andonov R, Djidjev H, Klau GW, Le Boudic-Jamin M, Wohlers I
Title
Automatic classification of protein structure using the maximum contact map overlap metric.
Journal title
Algorithms
Year
2015
Volume
vol. 8:
Pages
p.850-869
Authors
Lohmann K
Title
Der Beitrag der Gene beim Parkinson-Syndrom.
Journal title
Biospektrum
Year
2015
Volume
vol. 21:
Pages
p.699-702
Authors
Ganos C, Schöttle D, Zühlke C, Münchau A
Title
Psychosis complicating Friedreich ataxia.
Journal title
Mov Disord Clin Pract
Year
2015
Volume
vol. 2:
Pages
p.84–85
Authors
Kahl U, Schunke O, Schöttle D, David N, Brandt V, Bäumer T, Roessner V, Münchau A, Ganos C.
Title
Tic phenomenology and tic awareness in adults with autism.
Journal title
Mov Clin Pract
Year
2015
Volume
vol. 2:
Pages
p.237–242
Authors
Penemora J, Domingo A, Schmidt T, Westenberger A, Klein C, Rosales RL
Title
First report of a Filipino with Mohr-Tranebjaerg syndrome.
Journal title
Mov Disord Clin Pract
Year
2015
Volume
vol. 2:
Pages
p.417-419
Authors
Grünewald A, Arns B, Meier B, Brockmann K, Tadic V, Klein C
Title
Does Uncoupling Protein 2 Expression Qualify as Marker of Disease Status in LRRK2-Associated Parkinson's Disease?
Journal title
Antioxid Redox Signal
Year
2014
Volume
vol. 20:
Pages
p.1955-1960
Authors
Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Title
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.
Journal title
Neurobiol Aging
Year
2014
Volume
vol. 35:
Pages
p.266.e5-14
Authors
Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A
Title
Mutations in GNAL: A Novel Cause of Craniocervical Dystonia.
Journal title
JAMA Neurol
Year
2014
Volume
vol. 71:
Pages
p.490-494
Authors
Brüggemann N, Stiller S, Tadic V, Kasten M, Münchau A, Graf J, Klein C, Hagenah J
Title
Non-motor phenotype of dopa-responsive dystonia and quality of life assessment.
Journal title
Parkinsonism Relat Disord
Year
2014
Volume
vol. 20:
Pages
p.428-431
Authors
Koschmidder E, Mollenhauer B, Kasten M, Klein C, Lohmann K
Title
Mutations in VPS26A are not a frequent cause of Parkinson's disease.
Journal title
Neurobiol Aging
Year
2014
Volume
vol. 35:
Pages
p.1512.e1-2
Authors
Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C
Title
Genome-wide association study in musician's dystonia: A risk variant at the arylsulfatase G locus?
Journal title
Mov Disord
Year
2014
Volume
vol. 29:
Pages
p.921-927
Authors
Klein C
Title
Genetics in dystonia.
Journal title
Parkinsonism Relat Disord
Year
2014
Volume
vol. 20:
Pages
p.Suppl 1:S137-42
Authors
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C
Title
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Journal title
J Neurol
Year
2014
Volume
vol. 261:
Pages
p.207-212
Authors
Herz DM, Christensen MS, Bruggemann N, Hulme OJ, Ridderinkhof KR, Madsen KH, Siebner HR
Title
Motivational tuning of fronto-subthalamic connectivity facilitates control of action impulses.
Journal title
J Neurosci
Year
2014
Volume
vol. 34:
Pages
p.3210-3217
Authors
Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K
Title
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Journal title
Epilepsia
Year
2014
Volume
vol. 55:
Pages
p.e25-9
Authors
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK
Title
Reply: Dystonia after severe head injuries.
Journal title
Mov Disord
Year
2014
Volume
vol. 29:
Pages
p.578-579
Authors
Winkler S, Vollstedt EJ, Kasten M, Alvarez-Fischer D, Klein C, Lohmann K
Title
The recurrent mutation Arg258Gln in SYNJ1 (PARK20) is not a common cause of Parkinson's disease.
Journal title
J Neurol
Year
2014
Volume
vol. 261:
Pages
p.833-834
Authors
Lohmann K, Klein C
Title
The many faces of TUBB4A mutations.
Journal title
Neurogenetics
Year
2014
Volume
vol. 15:
Pages
p.81-82
Authors
Morais VA, Haddad D, Craessaerts K, De Bock PJ, Swerts J, Vilain S, Aerts L, Overbergh L, Grünewald A, Seibler P, Klein C, Gevaert K, Verstreken P, De Strooper B
Title
PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling.
Journal title
Science
Year
2014
Volume
vol. 344:
Pages
p.203-207
Authors
Seibler P, Klein C
Title
Stimulus-triggered acquisition of pluripotency: Revolutionizing human disease modeling and regenerative therapies?
Journal title
Mov Disord
Year
2014
Volume
vol. 29:
Pages
p.451
Authors
Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, Klein C, Kostić VS
Title
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a serbian patient.
Journal title
Mov Disord
Year
2014
Volume
vol. 29:
Pages
p.1190-1193
Authors
Deuse T, Hua X, Wang D, Maegdefessel L, Heeren J, Scheja L, Bolaños JP, Rakovic A, Spin JM, Stubbendorff M, Ikeno F, Länger F, Zeller T, Schulte-Uentrop L, Stoehr A, Itagaki R, Haddad F, Eschenhagen T, Blankenberg S, Kiefmann R, Reichenspurner H, Velden J, Klein C, Yeung A, Robbins RC, Tsao PS, Schrepfer S
Title
Dichloroacetate prevents restenosis in preclinical animal models of vessel injury.
Journal title
Nature
Year
2014
Volume
vol. 509:
Pages
p.641-644
Authors
Vulinovic F, Lohmann K, Rakovic A, Capetian P, Alvarez-Fischer D, Schmidt A, Weißbach A, Erogullari A, Kaiser FJ, Wiegers K, Ferbert A, Rolfs A, Klein C, Seibler P
Title
Unraveling Cellular Phenotypes of Novel TOR1A mutations.
Journal title
Hum Mutat
Year
2014
Volume
vol. 35:
Pages
p.1114-1122
Authors
Domingo A, Lee LV, Brüggemann N, Freimann K, Kaiser FJ, Jamora RD, Rosales RL, Klein C, Westenberger A
Title
Woman With X-Linked Recessive Dystonia-Parkinsonism: Clue to the Epidemiology of Parkinsonism in Filipino Women?
Journal title
JAMA Neurol
Year
2014
Volume
vol. 71:
Pages
p.1177-1180
Authors
Lohmann K, Klein C
Title
Next Generation Sequencing and the Future of Genetic Diagnosis.
Journal title
Neurotherapeutics
Year
2014
Volume
vol. 11:
Pages
p.699-707
Authors
Erogullari A, Hollstein R, Seibler P, Braunholz D, Koschmidder E, Depping R, Eckhold J, Lohnau T, Gillessen-Kaesbach G, Grünewald A, Rakovic A, Lohmann K, Kaiser FJ
Title
THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression.
Journal title
Biochim Biophys Acta
Year
2014
Volume
vol. 1839:
Pages
p.1196-1204
Authors
Kumar KR, Martemyanov KA, Lohmann K
Title
GNAL Mutations and Dystonia-Reply.
Journal title
JAMA Neurol
Year
2014
Volume
vol. 71:
Pages
p.1053-1054
Authors
Weissbach A, Klein C
Title
Hereditary dystonia and parkinsonism: two sides of the same coin?
Journal title
Brain
Year
2014
Volume
vol. 137:
Pages
p.2402-2404
Authors
Capetian P, Pauly MG, Azmitia LM, Klein C
Title
Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models.
Journal title
Front Cell Neurosci
Year
2014
Volume
vol. 8:
Pages
p.205
Authors
Ziegan J, Wittstock M, Westenberger A, Dobričić V, Wolters A, Benecke R, Klein C, Kamm C
Title
Novel GNAL mutations in two German patients with sporadic dystonia.
Journal title
Mov Disord
Year
2014
Volume
vol. 29:
Pages
p.1833-4
Authors
Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K
Title
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
Journal title
J Neurol
Year
2014
Volume
vol. 262:
Pages
p.187-193
Authors
Domingo A, Schmidt TG, Barcelon E, Lukban M, Westenberger A, Klein C
Title
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration.
Journal title
J Neurol
Year
2014
Volume
vol. 261:
Pages
p.2225-2227
Authors
Westenberger A, Klein C
Title
The genetics of primary familial brain calcifications.
Journal title
Curr Neurol Neurosci Rep
Year
2014
Volume
vol. 14:
Pages
p.490
Authors
Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Krüger R, Lesage S, Brice A, Chung SJ, Kim MJ, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan EK, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschländer A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C; GEO-PD Consortium
Title
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
Journal title
Neurology
Year
2014
Volume
vol. 83:
Pages
p.1906-1913
Authors
Ebrahimi-Fakhari D, Kang KS, Kotzaeridou U, Kohlhase J, Klein C, Assmann BE
Title
Child Neurology: PRRT2-associated movement disorders and differential diagnoses.
Journal title
Neurology
Year
2014
Volume
vol. 83:
Pages
p.1680-1683
Authors
Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR
Title
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Journal title
Nat Genet
Year
2013
Volume
vol. 45:
Pages
p.1077-1082
Authors
Kinugawa K, Monnet Y, Béchade C, Alvarez-Fischer D, Hirsch EC, Bessis A, Hunot S
Title
DAP12 and CD11b contribute to the microglial-induced death of dopaminergic neurons in vitro but not in vivo in the MPTP mouse model of Parkinson's disease.
Journal title
J Neuroinflammation
Year
2013
Volume
vol. 10:
Pages
p.82
Authors
Bénardais K, Kotsiari A, Skuljec J, Koutsoudaki PN, Gudi V, Singh V, Vulinović F, Skripuletz T, Stangel M
Title
Cuprizone [bis(cyclohexylidenehydrazide)] is selectively toxic for mature oligodendrocytes.
Journal title
Neurotox Res
Year
2013
Volume
vol. 24:
Pages
p.244-250
Authors
Alvarez-Fischer D, Noelker C, Grünewald A, Vulinović F, Guerreiro S, Fuchs J, Lu L, Lombès A, Hirsch EC, Oertel WH, Michel PP, Hartmann A
Title
Probenecid potentiates MPTP/MPP+ toxicity by interference with cellular energy metabolism.
Journal title
J Neurochem
Year
2013
Volume
vol. 127:
Pages
p.782-792
Authors
Lohmann K, Brockmann K
Title
Genetics of movement disorders
Journal title
Nervenarzt
Year
2013
Volume
vol. 84:
Pages
p.143-150
Authors
Schneider SA, Dusek P, Hardy J, Westenberger A, Jankovic J, Bhatia KP
Title
Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).
Journal title
Curr Neuropharmacol
Year
2013
Volume
vol. 11:
Pages
p.59-79
Authors
Noelker C, Morel L, Lescot T, Osterloh A, Alvarez-Fischer D, Breloer M, Henze C, Depboylu C, Skrzydelski D, Michel PP, Dodel RC, Lu L, Hirsch EC, Hunot S, Hartmann A
Title
Toll like receptor 4 mediates cell death in a mouse MPTP model of Parkinson disease.
Journal title
Sci Rep
Year
2013
Volume
vol. 3:
Pages
p.1393
Authors
Stuckenholz V, Bacher M, Balzer-Geldsetzer M, Alvarez-Fischer D, Oertel WH, Dodel RC, Noelker C
Title
The α7 nAChR Agonist PNU-282987 Reduces Inflammation and MPTP-Induced Nigral Dopaminergic Cell Loss in Mice.
Journal title
J Parkinsons Dis
Year
2013
Volume
vol. 3:
Pages
p.161-172
Authors
Rakic B, Rao FV, Freimann K, Wakarchuk W, Strynadka NC, Withers SG
Title
Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
Journal title
Glycobiology
Year
2013
Volume
vol. 23:
Pages
p.536-545
Authors
Westenberger A, Rosales RL, Heinitz S, Freimann K, Lee LV, Jamora RD, Ng AR, Domingo A, Lohmann K, Walter U, Gölnitz U, Rolfs A, Nagel I, Gillessen-Kaesbach G, Siebert R, Dressler D, Klein C
Title
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.675-678
Authors
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K
Title
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Journal title
JAMA Neurol
Year
2013
Volume
vol. 70:
Pages
p.783-787
Authors
Alvarez-Fischer D, Noelker C, Vulinović F, Grünewald A, Chevarin C, Klein C, Oertel WH, Hirsch EC, Michel PP, Hartmann A
Title
Bee venom and its component apamin as neuroprotective agents in a Parkinson disease mouse model.
Journal title
PLoS One
Year
2013
Volume
vol. 8:
Pages
p.e61700
Authors
Kresojević N, Mijajlović M, Perić S, Pavlović A, Svetel M, Janković M, Dobričić V, Novaković I, Lakočević MB, Klein C, Kostić VS
Title
Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations.
Journal title
Parkinsonism Relat Disord
Year
2013
Volume
vol. 19:
Pages
p.431-435
Authors
Weissbach A, Kasten M, Grünewald A, Brüggemann N, Trillenberg P, Klein C, Hagenah J
Title
Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia.
Journal title
Parkinsonism Relat Disord
Year
2013
Volume
vol. 19:
Pages
p.422-425
Authors
Agosta F, Kostic VS, Davidovic K, Kresojević N, Sarro L, Svetel M, Stanković I, Comi G, Klein C, Filippi M
Title
White matter abnormalities in Parkinson's disease patients with glucocerebrosidase gene mutations.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.772-778
Authors
Rakovic A, Shurkewitsch K, Seibler P, Grünewald A, Zanon A, Hagenah J, Krainc D, Klein C
Title
Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons.
Journal title
J Biol Chem
Year
2013
Volume
vol. 288:
Pages
p.2223-2237
Authors
Kasten M, Hagenah J, Graf J, Lorwin A, Vollstedt EJ, Peters E, Katalinic A, Raspe H, Klein C
Title
Cohort Profile: a population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK).
Journal title
Int J Epidemiol
Year
2013
Volume
vol. 42:
Pages
p.128-128k
Authors
van der Salm SM, de Haan RJ, Cath DC, van Rootselaar AF, Tijssen MA (Klein C listed as collaborator)
Title
The eye of the beholder: inter-rater agreement among experts on psychogenic jerky movement disorders.
Journal title
J Neurol Neurosurg Psychiatry
Year
2013
Volume
vol. 84:
Pages
p.742-747
Authors
Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A
Title
Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
Journal title
Neurobiol Aging
Year
2013
Volume
vol. 34:
Pages
p.2694.e19-20
Authors
Kasten M, Heinzow B, Vieregge P, Klein C
Title
Reply to: "Polychlorinated biphenyls in prospectively collected serum and Parkinson's disease risk".
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.1317
Authors
Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G
Title
No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.1305-1306
Authors
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C
Title
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Journal title
Ann Neurol
Year
2013
Volume
vol. 73:
Pages
p.537-545
Authors
Mastroeni C, Bergmann TO, Rizzo V, Ritter C, Klein C, Pohlmann I, Brueggemann N, Quartarone A, Siebner HR
Title
Brain-derived neurotrophic factor--a major player in stimulation-induced homeostatic metaplasticity of human motor cortex?
Journal title
PLoS One
Year
2013
Volume
vol. 8:
Pages
p.e57957
Authors
Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC)
Title
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.
Journal title
J Neurol Neurosurg Psychiatry
Year
2013
Volume
vol. 84:
Pages
p.666-673
Authors
Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Saviouk V, Rolfs A, Klein C, Sue CM
Title
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
Journal title
J Neurol
Year
2013
Volume
vol. 260:
Pages
p.2516-2522
Authors
Grünewald A, Kasten M, Ziegler A, Klein C
Title
Next-generation phenotyping using the parkin example: time to catch up with genetics.
Journal title
JAMA Neurol
Year
2013
Volume
vol. 70:
Pages
p.1186-1191
Authors
Kumar K, Ramirez A, Gobel A, Kresojevic N, Svetel M, Lohmann K, Sue C, Rolfs A, Mazzulli J, Alcalay R, Krainc D, Klein C, Kostic V, Grunewald A
Title
Glucocerebrosidase mutations in a Serbian Parkinson’s disease population.
Journal title
Eur J Neurol
Year
2013
Volume
vol. 20:
Pages
p.402-405
Authors
Mollenhauer B, Trautmann E, Sixel-Döring F, Wicke T, Ebentheuer J, Schaumburg M, Lang E, Focke NK, Kumar KR, Lohmann K, Klein C, Schlossmacher MG, Kohnen R, Friede T, Trenkwalder C; On behalf of the DeNoPa Study Group
Title
Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort.
Journal title
Neurology
Year
2013
Volume
vol. 81:
Pages
p.1226-1234
Authors
Morgante F, Klein C
Title
Dystonia.
Journal title
Continuum (Minneap Minn)
Year
2013
Volume
vol. 19:
Pages
p.1225-1241
Authors
Klein C, Münchau A
Title
Progressive dystonia.
Journal title
Handb Clin Neurol
Year
2013
Volume
vol. 113:
Pages
p.1889-1897
Authors
Kasten M, Grünewald A, Klein C
Title
In Reply: Next-generation phenotyping and genomic incidental findings: beyond the Parkin example.
Journal title
JAMA Neurol
Year
2013
Volume
vol. 70:
Pages
p.1590-1591
Authors
Klein C, Krainc D
Title
Glucocerebrosidase mutations: tipping point toward Parkinson disease and dementia?
Journal title
JAMA Neurol
Year
2013
Volume
vol. 70:
Pages
p.686-688
Authors
Schmidt A, Jabusch HC, Altenmüller E, Kasten M, Klein C
Title
Challenges of making music: what causes musician's dystonia?
Journal title
JAMA Neurol
Year
2013
Volume
vol. 70:
Pages
p.1456-1459
Authors
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK
Title
Phenomenology and classification of dystonia: a consensus update.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.863-873
Authors
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Title
Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.1740-1744
Authors
Kasten M, Klein C
Title
The many faces of alpha-synuclein mutations.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.697-701
Authors
Klein C, Fahn S
Title
Translation of Oppenheim's 1911 paper on dystonia.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.851-862
Authors
Lohmann K, Klein C
Title
Genetics of dystonia: what's known? What's new? What's next?
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.899-905
Authors
Trilck M, Hübner R, Seibler P, Klein C, Rolfs A, Frech MJ
Title
Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
Journal title
Orphanet J Rare Dis
Year
2013
Volume
vol. 8:
Pages
p.144
Authors
Zanon A, Rakovic A, Blankenburg H, Doncheva NT, Schwienbacher C, Serafin A, Alexa A, Weichenberger CX, Albrecht M, Klein C, Hicks AA, Pramstaller PP, Domingues FS, Pichler I
Title
Profiling of Parkin-binding partners using tandem affinity purification.
Journal title
PLoS One
Year
2013
Volume
vol. 8:
Pages
p.e78648
Authors
Dehay B, Martinez-Vicente M, Caldwell GA, Caldwell KA, Yue Z, Cookson MR, Klein C, Vila M, Bezard E
Title
Lysosomal impairment in Parkinson's disease.
Journal title
Mov Disord
Year
2013
Volume
vol. 28:
Pages
p.725-732
Authors
Klein C, Gasser T
Title
Einführung in die Neurogenetik (Introduction to neurogenetics).
Journal title
Nervenarzt
Year
2013
Volume
vol. 84:
Pages
p.135-136
Authors
Goldman SM, Kamel F, Ross GW, Bhudhikanok GS, Hoppin JA, Korell M, Marras C, Meng C, Umbach DM, Kasten M, Chade AR, Comyns K, Richards MB, Sandler DP, Blair A, Langston JW, Tanner CM
Title
Genetic modification of the association of paraquat and Parkinson's disease.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.1652-1658
Authors
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium. (Klein C listed as collaborator)
Title
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Journal title
J Med Genet
Year
2012
Volume
vol. 49:
Pages
p.721-726
Authors
Palada V, Terzic J, Mazzulli J, Bwala G, Hagenah J, Peterlin B, Hung AY, Klein C, Krainc D
Title
Histamine N-methyltransferase Thr105Ile Polymorphism is associated with Parkinson's disease.
Journal title
Neurobiol Aging
Year
2012
Volume
vol. 33(4):
Pages
p.836.e1-3
Authors
Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn A, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N
Title
Identification and functional analysis of novel THAP1 mutations.
Journal title
Eur J Hum Genet
Year
2012
Volume
vol. 20:
Pages
p.171-175
Authors
Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tonnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C
Title
Autosomal dominant Parkinson’s disease in a large German pedigree.
Journal title
Acta Neurol Scand
Year
2012
Volume
vol. 126:
Pages
p.129-137
Authors
Zittel S, Kroeger J, van der Vegt JPM, Siebner HR, Brüggemann N, Ramirez A, Behrens MI, Gerloff C, Bäumer T, Klein C, Münchau A
Title
Motor pathway exitability in ATP13A2 mutation carriers: a transcranial magnetic stimulation study.
Journal title
Park Rel Disord
Year
2012
Volume
vol. 18:
Pages
p.590-594
Authors
Kumar KR, Weissbach A, Heldmann M, Kasten M, Tunc S, Sue CM, Svetel M, Kostic VS, Segura-Aguilar J, Ramirez A, Simon DK, Vieregge P, Münte TF, Hagenah J, Klein C, Lohmann K
Title
Frequency of the D620N Mutation in VPS35 in Parkinson Disease.
Journal title
Arch Neurol
Year
2012
Volume
vol. 69:
Pages
p.1360-1364
Authors
Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C
Title
Beneficial prenatal levodopa therapy in autosomal recessive GTP cyclohydrolase I deficiency.
Journal title
Arch Neurol
Year
2012
Volume
vol. 69:
Pages
p.1071-1075
Authors
Marras C, Lohmann K, Lang AE, Klein C
Title
Fixing the broken system of genetic locus symbols: Parkinsonism and dystonia as examples.
Journal title
Neurology
Year
2012
Volume
vol. 78:
Pages
p.1016-1024
Authors
Anders S, Sack B, Pohl A, Münte T, Pramstaller P, Klein C, Binkofski F
Title
Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele.
Journal title
Brain
Year
2012
Volume
vol. 135:
Pages
p.1128-1140
Authors
Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Charbonnier-Beaupel F, Corvol JC, Vidailhet M, Klein C, Dusart I, Brice A, Roze E
Title
RAD51 haploinsufficiency causes congenital mirror movements in humans.
Journal title
Am J Hum Genet
Year
2012
Volume
vol. 90:
Pages
p.301-307
Authors
Freundlieb N, Philipp S, Schneider SA, Brüggemann N, Klein C, Gerloff C, Hummel FC
Title
No association of the BDNF val66met polymorphism with implicit associative vocabulary and motor learning.
Journal title
PLoS One
Year
2012
Volume
vol. 7:
Pages
p.e48327
Authors
Schmidt A, Altenmüller E, Jabusch H-C, Lee A, Wiegers K, Klein C, Lohmann K
Title
The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician’s dystonia.The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician’s dystonia.
Journal title
Parkinsonism Rel Disord
Year
2012
Volume
vol. 18:
Pages
p.690-691
Authors
Schmidt A, Kumar KR, Redyk K, Grünewald A, Leben M, Münchau A, Sue CM, Hagenah J, Hartmann H, Lohmann K, Christen H-J, Klein C
Title
Two faces of the same coin: Benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations.
Journal title
Arch Neurol
Year
2012
Volume
vol. 13:
Pages
p.228-232
Authors
Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide B-M M, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, DeStefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hil-Burns EM, Klein C, Latourelle J, Maraganore DM, Martin E, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Kefansson K, Singleton AB, Toda T, Tung JY, Vance J, Wood N, Zabetian, 23and Me Inc., The Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium, The International Parkinson’s Disease Genomics Consortium (IPDGC), The Parkinson’s Dissease GWAS Consortium, The WEllcome Trust Case Control Consrotium 2 (WTCCC2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JPA, Bertram L
Title
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
Journal title
PLoS Genet
Year
2012
Volume
vol. 8:
Pages
p.e1002548
Authors
Hilker R, Pilatus U, Eggers C, Hagenah J, Roggendorf J, Baudrexel S, Klein JC, Neumaier B, Fink GR, Steinmetz H, Klein C, Hattingen E
Title
The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations.
Journal title
PLoS One
Year
2012
Volume
vol. 7:
Pages
p.e51308
Authors
Appenzeller S, Their S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G
Title
No association between NOD2 variants and Parkinson disease.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.1191-1192
Authors
Grünewald A, Arns B, Rakovic A, Münchau A, Ramirez A, Sue CM, Klein C
Title
ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome.
Journal title
Neurobiol Aging
Year
2012
Volume
vol. 33:
Pages
p.1843.e1-7
Authors
Richter J, Appenzeller S, Ammerpohl O, Deuschl G, Paschen S, Brüggemann N, Klein C, Kuhlenbäumer G
Title
No evidence for differential methylation of α-synuclein in leukocyte DNA of Parkinson's disease patients.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.590-591
Authors
Dehay B, Ramirez A, Martinez-Vicente M, Perier C, Canron MH, Doudnikoff E, Vital A, Vila M, Klein C, Bezard E
Title
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration.
Journal title
Proc Natl Acad Sci U S A
Year
2012
Volume
vol. 109:
Pages
p.9611-9616
Authors
Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O
Title
Pharmacological Rescue of Mitochondrial Deficits in iPSC-Derived Neural Cells Patients with familial Parkinson’s disease.
Journal title
Sci Transl Med
Year
2012
Volume
vol. 4:
Pages
p.141ra90
Authors
Groen JL, Kallen MC, van de Warrenburg BP, Speelman JD, van Hilten JJ, Aramideh M, Boon AJ, Klein C, Koelman JH, Langeveld TP, Baas F, Tijssen MA
Title
Phenotypes and genetic architecture of focal primary torsion dystonia.
Journal title
J Neurol Neurosurg Psychiatry
Year
2012
Volume
vol. 83:
Pages
p.1006-1011
Authors
Schmitt I, Wüllner U, van Rooyen JP, Khazneh H, Becker J, Volk A, Kubisch C, Becker T, Kostic VS, Klein C, Ramirez A
Title
Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
Journal title
Eur J Hum Genet
Year
2012
Volume
vol. 20:
Pages
p.1265-1269
Authors
Göbel A, Macklin EA, Winkler S, Betensky RA, Klein C, Lohmann K, Simon DK
Title
Genetic risk factors in Parkinson's disease: single gene effects and interactions of genotypes.
Journal title
J Neurol
Year
2012
Volume
vol. 259:
Pages
p.2503-2505
Authors
Wortmann SB, Vaz FM, Gardeitschik T, Vissers LELM, Renkema GH, Schuurs-Hoeijmakers JHM, Kulik W, Lammens M, Christin C, Kluijtmans LAJ, Rodenburg RJ, Nijmans LGJ, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal K, Rumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JAM, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer APM
Title
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Journal title
Nature Genetics
Year
2012
Volume
vol. 44:
Pages
p.797-802
Authors
Dehay B, Martinez-Vicente M, Ramirez A, Perier C, Klein C, Vila M, Bezard E
Title
Lysosomal dysfunction in Parkinson disease: ATP13A2 gets into the groove.
Journal title
Autophagy
Year
2012
Volume
vol. 8:
Pages
p.1389-1391
Authors
Alvarez-Fischer D, Grundmann M, Lu L, Samans B, Fritsch B, Moller JC, Schäfer MKH, Hartmann A, Oertel WH, Bandmann O
Title
Prolonged generalized dystonia after chronic cerebellar application of kainic acid.
Journal title
Brain Res
Year
2012
Volume
vol. 1464:
Pages
p.82-88
Authors
Fuchs J, Stettler O, Alvarez-Fischer D, Prochiantz A, Moya KL, Joshi RL
Title
Engrailed signaling in axon guidance and neuron survival.
Journal title
Eur J Neurosci
Year
2012
Volume
vol. 35:
Pages
p.1837-1845
Authors
Helmchen C, Pohlmann J, Trillenberg P, Lencer R, Graf J, Sprenger A
Title
Role of anticipation and prediction in smooth pursuit eye movement control in Parkinson's disease.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.1012-1018
Authors
Hagenah J, Brüggemann N
Title
Basal ganglia sonography: Will it mature into a preclinical diagnostic tool for Parkinson’s Disease?
Journal title
Basal Ganglia
Year
2012
Volume
vol. 2:
Pages
p.183–187
Authors
Tadic V, Kasten M, Brüggemann B, Stiller S, Hagenah J, Klein C
Title
Dopa-responsive dystonia revisited: Diagnostic delay, residual signs, and non-motor signs
Journal title
Arch Neurol
Year
2012
Volume
vol. 69:
Pages
p.1558-1562
Authors
Schneider SA, Drude L, Kasten M, Klein C, Hagenah J
Title
A study of subtle motor signs in early Parkinson’s disease.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.1563-1566
Authors
Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K
Title
Exome sequencing in a family with restless legs syndrome.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.1686-1689
Authors
Klein C, Lohmann K, Ziegler Z.
Title
The Promise of Genome-wide Association Studies.
Journal title
JAMA
Year
2012
Volume
vol. 308:
Pages
p.1867-1868
Authors
Kasten M, Kertelge K, Tadic V, Brüggemann N, Schmidt A, van der Vegt J, Siebner H, Buhmann C, Lencer R, Kumar KR, Lohmann K, Hagenah J, Klein C.
Title
Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson disease.
Journal title
Mov Disord
Year
2012
Volume
vol. 27:
Pages
p.754-759
Authors
Opladen T, Hoffmann GF, Hörster F, Hinz AB, Neidhardt K, Klein C, Wolf NI
Title
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.157-161
Authors
Krüger R, Sharma M, Riess O, Gasser T, van Broeckhoven C, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska/Myga B, Klein C, Lesage S, Lin J-J, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Theuns J, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM
Title
A large-scale genetic association study to evaluate the contributaion of Omi/HtrA2 (PARK13) to Parkinson’s disease.
Journal title
Neurobiol Aging
Year
2011
Volume
vol. 32:
Pages
p.548.e9-18
Authors
Ramirez A, Ziegler A, Winkler S, Kottwitz J, Giesen R, Diaz-Grez F, Miranda M, Venegas P, Godoy OT, Avello R, Behrens MI, Klein C, Segura-Aguilar, Lohmann K
Title
Association of Parkinson disease to PARK16 in a Chilean sample.
Journal title
Parkinsonism Relat Disord
Year
2011
Volume
vol. 17:
Pages
p.70-71
Authors
Reetz K, Kleiman A, Klein C, Lencer R, Zühlke C, Brockmann K, Rolfs A, Binkofski F
Title
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: A VBM study.
Journal title
PLoS One
Year
2011
Volume
vol. 6:
Pages
p.e15125
Authors
Schmidt A, Jabusch H-C, Altenmüller E, Enders L, Saunders-Pullman R, Bressman SB, Münchau A, Klein C, Hagenah J
Title
Phenotypic spectrum of musician’s dystonia: A task-specific disorder?
Journal title
Mov Disord
Year
2011
Volume
vol. 25:
Pages
p.546-549
Authors
Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, Brüggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K
Title
Homozygous THAP1 mutations as cause of early-onset generalized dystonia.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.858-861
Authors
Elbaz A, Ross OA, Ioannidis JPA, Soto-Ortolaza, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin M-C, Destée A, Ferrarese C, Ferraris A, Gibson M, Suzana Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert J-C, Lohmann K, van de Loo S, Loriot A-M, Lynch T, MD, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, MD, PhD, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ on behalf of the Genetic Epidemiology Of Parkinson’s Disease (GEO-PD) consortium
Title
Independent and joint effects of the MAPT and SNCA genes in Parkinson’s disease.
Journal title
Ann Neurol
Year
2011
Volume
vol. 69:
Pages
p.778-792
Authors
Brüggemann N, Würfel J, Petersen D, Klein C, Hagenah J, Schneider SA
Title
Idiopathic NBIA – clinical spectrum and transcranial sonography findings.
Journal title
Eur J Neurol
Year
2011
Volume
vol. 18:
Pages
p.e58-59
Authors
Enders L, Spector JT, Altenmüller E, Schmidt A, Klein C, Jabusch H-C
Title
Musician’s dystonia and comorbid anxiety: two sides of one coin?
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.539-542
Authors
Brüggemann N, Hagenah J, Stanley K, Klein C, Wang C, Raymond D, Ozelius L, Bressman S, Saunders-Pullman R
Title
Substantia nigra hyperechogenicity with LRRK2 G2010S mutations.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.885-888
Authors
Fong CY, Rolfs A, Schwarzbraun T, Klein C, O’Callaghan FJK
Title
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
Journal title
Eur J Ped Neurol
Year
2011
Volume
vol. 15:
Pages
p.271-275
Authors
Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C
Title
Mutations in PINK1 and Parkin impair ubiquitylation of Mitofusins in human fibroblasts.
Journal title
PLoS One
Year
2011
Volume
vol. 6:
Pages
p.e16746
Authors
Seibler P, Graziotto J, Heong H, Simunovic F, Klein C, Krainc D
Title
Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells.
Journal title
J Neurosci
Year
2011
Volume
vol. 31:
Pages
p.5970-5976
Authors
Kasten M, Brüggemann N, König I, Doerry K, Steinlechner S, Wenzel L, Lohmann K, Klein C, Lencer R
Title
Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility.
Journal title
Psychopharmacology (Berl)
Year
2011
Volume
vol. 214:
Pages
p.729-736
Authors
Hagenah J, König IR, Kötter C, Seidel K, Klein C, Brüggemann N
Title
Basal ganglia hyperechogenicity does not distinguish between patients with primary dystonia and healthy individuals.
Journal title
J Neurol
Year
2011
Volume
vol. 258:
Pages
p.590-595
Authors
Steinlechner S, Brüggemann N, Sobottka V, Benthien A, Behn B, Klein C, Schmid G, Lencer R
Title
Restless legs syndrome as a possible predictor for psychiatric disorders in parents of children with ADHD.
Journal title
Eur Arch Psychiatry Clin Neurosci
Year
2011
Volume
vol. 261:
Pages
p.285-291
Authors
Rakovic A, Grünewald A, Voges L, Hofmann S, Orolicki S, Lohmann K, Klein C
Title
PINK1-interacting proteins: Proteomic analysis of overexpressed PINK1. Special Issue: Mitochondrial Dysfunction in Parkinson’s Disease.
Journal title
Parkinson’s Disease
Year
2011
Volume
vol. :
Pages
p.153979
Authors
Marras C, Schuele B, Munhoz RP, Rogaeva EA, Langston JW, Kasten M, Meaney C, Klein C, Wadia PM, Lim S-Y, Chuang R S-I, Zadikoff C, Steeves T, Prakash KM, de Bie RMA, Adeli G, Thomsen T, Johansen K, Teive H, Asante A, Reginold W, Lang AE
Title
Phenotype in parkinsonian and non-parkinsonian LRRK2 mutation carriers.
Journal title
Neurology
Year
2011
Volume
vol. 77:
Pages
p.325-333
Authors
Schiebler S, Schmidt A, Zittel S, Bäumer T, Gerloff C, Klein C, Münchau A
Title
Arm tremor in cervical dystonia – is it a manifestation of dystonia or essential tremor?
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.1789-1792
Authors
Kamm C, Uflacker N, Asmus F, Schrader C, Wolters A, Wittstock M, Pahnke J, Gasser T, Volkmann J, Münchau A, Hagenah J, Benecke R, Klein C, Lohmann K
Title
No evidence for THAP1/DYT6 mutations as a potential disease modifier in DYT1 dystonia.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2136-2137
Authors
Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodriguez MC, Münchau A, Albrecht M, Brüggemann N, Gillessen-Kaesbach G., Klein C, Lohmann K, Kaiser FJ
Title
Truncating mutations in THAP1 define the nuclear localization signal.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.1565-1567
Authors
Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Broeckhoven CV, Chartier-Harlin M-C, Destree A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert J-C, Lang AE, Mellick GD, Nigris FD, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R; Genetic Epidemiology of Parkinson's Disease Consortium
Title
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson disease.
Journal title
Neurobiol Aging
Year
2011
Volume
vol. 32:
Pages
p.2108e1-5
Authors
Arif B, Anne G, Amara F, Ramirez A, Arif A, Brüggemann N, Würfel J, Rolfs A, Lohmann K, Akbar M, Klein C, Naz S
Title
An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs and limited speech.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2279-2283
Authors
Ross O, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, van Broeckhoven C, Carr J, Chartier-Harlin M-C, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Fibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JPA, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin C-H, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburg PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefelt K, Wszolek ZK, Wu R-M, Farrer MJ; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
Title
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.
Journal title
Lancet Neurol
Year
2011
Volume
vol. 10:
Pages
p.898-908
Authors
Abramov A, Gegg M, Hardy J, Wood NW, Klein C, Schapira AH
Title
Bioenergetic consequences of PINK1 mutations in Parkinson disease.
Journal title
PLoS One
Year
2011
Volume
vol. 6:
Pages
p.e25622
Authors
Lopez-Laso E, Sanchez-Raya A, Moriana-Elvira JA, Martinez-Güal, Camino-Leon R, Mateos-Gonzalez ME, Perez-Navero JL, Sepulveda JJO, Ormazabal A, Opladen T, Klein C, Lao-Villadoniga JI, Artuch R
Title
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
Journal title
J Neurol
Year
2011
Volume
vol. 258:
Pages
p.2155-2162
Authors
Klein C, Chuang R, Marras C, Lang AE
Title
The curious case of phenocopies in families with genetic Parkinson’s disease.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.1793-1802
Authors
Djarmati A, Brüggemann N, Espay AJ, Bhatia KP, Klein C
Title
A novel DCC mutation and genetic heterogeneity in congenital mirror movements.
Journal title
Neurology
Year
2011
Volume
vol. 77:
Pages
p.1580
Authors
Heinitz S, Klein C, Djarmati A
Title
The p.S77N presenilin-associated rhomboid-like protein mutation is not a frequent cause of early-onset Parkinson's disease.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2441-2442
Authors
Zittel S, Bäumer T, Brüggemann N, Gerloff C, Klein C, Münchau A
Title
Paroxysmal cervical myoclonus.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2445-2446
Authors
van Es M, Schelhaas HJ, van Vught PWJ, Ticozzi N, Andersen PM, Groen EJN, Schulte C, Blauw HM, Koppers M, Diekstra FP, Fumoto K, LeClerc AL, Keagle P, Bloem BR, Scheffer H, van Nuenen BFL, van Blitterswijk M, van Rheenen W, Wills A-M, Lowe PP, Hu G-F, Yu W, Kishikawa H, Wu D, Folkerth RD, Mariani C, Goldwurm S, Pezzoli G, van Damme P, Lemmens R, Dahlberg C, Birve A, Fernandez-Santiago R, Waibel S, Klein C, Weber M, van der Kooi AJ, de Visser M, Verbaan D, van Hilten JJ, Heutink P, Hennekam EAM, Cuppen E, Berg D, Bronw Jr RH, Silani V, Gasser T, Ludolph AC, Robberecht W, Ophoff RA, Veldink JH, Pasterkamp RJ, de Bakker PIW, Landers JE, van de Warrenburg BP, van den Berg LH
Title
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Journal title
Ann Neurol
Year
2011
Volume
vol. 70:
Pages
p.964-973
Authors
Klein C
Title
The Wilson films – Huntington’s chorea.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2464-2466
Authors
Wilcox RA, Winkler S, Lohmann K, Klein C
Title
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
Journal title
Mov Disord
Year
2011
Volume
vol. 26:
Pages
p.2404-2408
Authors
Nery FC, Armata IA, Farley JE, Cho JA, Yaqub U, Chen P, da Hora CC, Wang Q, Tagaya M, Klein C, Tannous B, Caldwell KA, Caldwell GA, Lencer WI, Ye Y, Breakefield XO
Title
TorsinA participates in endoplasmic reticulum-associated degradation.
Journal title
Nat Commun
Year
2011
Volume
vol. 2:
Pages
p.393
Authors
Capetian P, Döbrössy M, Winkler C, Prinz M, Nikkhah G
Title
To be or not to be accepted: the role of immunogenicity of neural stem cells following transplantation into the brain in animal and human studies.
Journal title
Semin Immunopathol
Year
2011
Volume
vol. 33:
Pages
p.619-626
Authors
Scaglione KM, Zavodszky E, Todi SV, Patury S, Xu P, Rodríguez-Lebrón E, Fischer S, Konen J, Djarmati A, Peng J, Gestwicki JE, Paulson HL
Title
Ube2w and Ataxin-3 Coordinately Regulate the Ubiquitin Ligase CHIP.
Journal title
Mol Cell
Year
2011
Volume
vol. 43:
Pages
p.599-612
Authors
Durcan TM, Kontogiannea M, Thorarinsdottir T, Fallon L, Williams AJ, Djarmati A, Fantaneanu T, Paulson HL, Fon EA
Title
The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability.
Journal title
Hum Mol Genet
Year
2011
Volume
vol. 20:
Pages
p.141-154
Authors
Alvarez-Fischer D, Fuchs J, Castagner F, Stettler O, Massiani-Beaudoin O, Moya KL, Bouillot C, Oertel WH, Lombès A, Faigle W, Joshi R, Hartmann A, Prochiantz A
Title
Engrailed proteins protect mouse midbrain dopaminergic neurons against mitochondrial complex I insults and regulate their physiology.
Journal title
Nat neuroscience
Year
2011
Volume
vol. 14:
Pages
p.1260-1266
Authors
Ros-Bernal F, Hunot S, Herrero MT, Parnadeau S, Corvol JC, Lu L, Alvarez-Fischer D, Carrillo-de Sauvage MA, Saurini F, Coussieu C, Kinugawa K, Prigent A, Höglinger G, Harnon M, Tronche F, Hirsch EC, Vyas S
Title
Microglial glucocorticoid receptors play a pivotal role in regulating dopaminergic neurodegeneration in parkinsonism.
Journal title
PNAS
Year
2011
Volume
vol. 108:
Pages
p.6632-6637
Authors
Alvarez-Fischer D, Oertel WH
Title
Erfolge der Gentherapie rücken in greifbare Nähe.
Journal title
InFo Neurologie & Psychiatrie
Year
2011
Volume
vol. 4:
Pages
p.23
Authors
Tanner CM, Kamel F, Ross GW, Hoppin JA, Goldman SM, Korell M, Marras C, Bhudhikanok GS, Kasten M, Chade AR, Comyns K, Richards MB, Meng C, Priestley B, Fernandez HH, Cambi F, Umbach DM, Blair A, Sandler DP, Langston JW
Title
Rotenone, paraquat, and Parkinson's disease.
Journal title
Environ Health Perspect
Year
2011
Volume
vol. 119:
Pages
p.866-872
Authors
Goldman SM, Quinlan PJ, Ross GW, Marras C, Meng C, Bhudhikanok GS, Comyns K, Korell M, Chade AR, Kasten M, Priestley B, Chou KL, Fernandez HH, Cambi F, Langston JW, Tanner CM
Title
Solvent exposures and parkinson disease risk in twins.
Journal title
Ann Neurol
Year
2011
Volume
vol. 71:
Pages
p.6
Authors
Kumar KR, Liang C, Needham M, Burke D, Sue CM, Ng K
Title
Axonal hyperpolarization in inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD).
Journal title
Muscle Nerve
Year
2011
Volume
vol. 44:
Pages
p.191-196
Authors
Ng K, Kumar K, Brew B, Burke D
Title
Axonal excitability in viral polyneuropathy and nucleoside neuropathy in HIV patients.
Journal title
J Neurol Neurosurg Psychiatry
Year
2011
Volume
vol. 82:
Pages
p.978-980
Authors
Kumar KR, Djarmati-Westenberger A, Grünewald A
Title
Genetics of Parkinson’s disease.
Journal title
Semin Neurol
Year
2011
Volume
vol. 31:
Pages
p.433-440
Authors
Kostić VS, Lukić-Ječmenica M, Novaković I, Dobričić V, Brajković L, Krajinović M, Klein C, Pavlović A
Title
Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification.
Journal title
J Neurol
Year
2011
Volume
vol. 258:
Pages
p.1637-1642
Authors
Klein C, Hagenah J, Landwehrmeyer B, Münte T, Klockgether T
Title
The presymptomatic stage of neurodegenerative disorders
Journal title
Nervenarzt
Year
2011
Volume
vol. 82:
Pages
p.994-1001
Authors
Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F
Title
Structural imaging in the presymptomatic stage of genetically determined parkinsonism.
Journal title
Neurobiol Dis
Year
2010
Volume
vol. 39:
Pages
p.402-408
Authors
Pichler I, Marroni F, Lohmann K, De Grandi A, Klein C, Hicks AA, Pramstaller PP
Title
Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS).
Journal title
Am J Med Genet B Neuropsychiatr Genet
Year
2010
Volume
vol. 153B:
Pages
p.350-355
Authors
Steinlechner S, Klein C, Moser A, Lencer R, Hagenah J
Title
Botulinum toxin B as an effective and safe treatment for neuroleptic-induced sialorrhea.
Journal title
Psychopharmacol
Year
2010
Volume
vol. 207:
Pages
p.593-597
Authors
Walter M, Bonin M, Saunders-Pullman R, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K
Title
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
Journal title
Neurobiol Disease
Year
2010
Volume
vol. 38:
Pages
p.192-200
Authors
Eggers C, Schmidt A, Hagenah J, Brüggemann N, Klein JC, Tadic V, Kertelge L, Binkofski F, Siebner H, Neumaier B, Fink GR, Hilder R, Klein C
Title
Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit.
Journal title
Neurology
Year
2010
Volume
vol. 74:
Pages
p.1798-1805
Authors
Verleger R, Hagenah J, Weiss M, Ewers T, Heberlein I, Pramstaller P, Siebner HR, Klein C
Title
Responsiveness to distracting stimuli, though increased in Parkinson’s disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers.
Journal title
Neuropsychologia
Year
2010
Volume
vol. 48:
Pages
p.467-476
Authors
Svetel M, Ozelius LJ, Buckley A, Lohmann K, Brajkovic L, Klein C, Kostic VS
Title
Rapid-onset dystonia-parkinsonism: case report.
Journal title
J Neurol
Year
2010
Volume
vol. 257:
Pages
p.472-474
Authors
Gierthmühlen J, Schumacher S, Deuschl G, Fritzer E, Klein C, Baron R, Helmchen C
Title
Somatosensory function in asymptomatic parkin mutation carriers.
Journal title
Eur J Neurol
Year
2010
Volume
vol. 173:
Pages
p.513-517
Authors
Weissbach A, Djarmati A, Klein C, Dragasevic N, Zühlke C, Rakovic A, Guzvic M, Butz E, Tönnies H, Siebert R, Petrovic I, Svetel M, Kostic VS, Lohmann K
Title
Possible genetic heterogeneity of spinocerebellar ataxia linked to chromosome 15.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.1577-1582
Authors
Marras C, Klein C, Lang AE, Wakutani Y, Moreno D, Sato C, Yip E, Munhoz R, Lohmann K, Djarmati A, Bi A, Rogaeva E
Title
LRRK2 and Parkin muations in a family with parkinsonism – lack of genotype-phenotype correlation.
Journal title
Neurobiol Aging
Year
2010
Volume
vol. 31:
Pages
p.721-722
Authors
Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV Hauke J, Hahnen E, Gonzalez R, Seleme N, Fernandez V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A
Title
Clinical spectrum of Kufor Rakeb Syndrome in the Chilean kindered with ATP13A2 mutations.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.1929-1937
Authors
Spuler S, Krug H, Klein C, Medialdea IC, Jakob W, Ebersbach G, Gruber D, Hoffmann K-T, Trottenberg T, Kupsch A
Title
Myopathy causing camptocormia in idiopathic Parkinson’s disease: a multidisciplinary approach.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.552-559
Authors
Kasten M, Weichert C, Lohmann K, Klein C
Title
Clinical and demographic characteristics of PINK1 mutation carriers – A meta-analysis.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.952-954
Authors
Paus S, Gadow F, Kaut O, Knapp M, Klein C, Klockgether T, Wüllner U
Title
Tremor in Parkinson’s disease is not associated to the DRD3 Ser9Gly polymorphism.
Journal title
Parkinsonism Rel Disord
Year
2010
Volume
vol. 16:
Pages
p.381-383
Authors
Hagenah J, König IR, Sperner J, Wessel L, Seidel G, Condefer K, Saunders-Pullman R, Klein C, Brüggemann N
Title
Life-long increase of substantia nigra hyperechogenicity.
Journal title
Neuroimage
Year
2010
Volume
vol. 51:
Pages
p.28-32
Authors
Machner B, Klein C, Sprenger A, Baumbach P, Pramstaller P, Helmchen C, Heide W
Title
Eye movement disorders are different in Parkin-linked and idiopathic early-onset Parkinson’s disease.
Journal title
Neurology
Year
2010
Volume
vol. 75:
Pages
p.125-128
Authors
van Eimeren T, Binkofski F, Buhmann C, Hagenah J, Strafella A, Pramstaller PP, Siebner HR, Klein C
Title
Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson’s disease.
Journal title
Parkinsonism Rel Disord
Year
2010
Volume
vol. 16:
Pages
p.384-387
Authors
Gruber D, Kühn AA, Schoenecker T, Kivi A, Trottenberg T, Hoffmann KT, Gharabaghi A, Kopp UA, Schneider GH, Klein C, Asmus F, Kupsch A
Title
Pallidal and thalamic deep brain stimulation in myoclonus-dystonia.
Journal title
Mov Disord
Year
2010
Volume
vol. 2511:
Pages
p.1733-1743
Authors
Rakovic A, Grünewald A, Seibler P, Ramirez A, Kock N, Orolicki S, Lohmann K, Klein C
Title
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.
Journal title
Hum Mol Genet
Year
2010
Volume
vol. 19:
Pages
p.3124-3137
Authors
Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AHV, Pramstaller PP, Sue CM, Klein C
Title
Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.
Journal title
PLoS One
Year
2010
Volume
vol. 5:
Pages
p.e12962
Authors
Brüggemann N, Hagenah J, Reetz K, Schmidt A, Kasten M, Buchmann I, Eckerle S, Bähre M, Münchau A, Djarmati A, van der Vegt J, Siebner H, Binkofski F, Ramirez A, Behrens MI, Klein C
Title
Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype.
Journal title
Arch Neurol
Year
2010
Volume
vol. 67:
Pages
p.1357-1363
Authors
Klebe S, Their S, Lorenz D, Nothnagel M, Schreiber S, Klein C, Hagenah J, Kasten M, Gasser T, Deuschl G, Kuhlenbäumer G
Title
LINGO1 is not associated with Parkinson’s disease in German patients.
Journal title
Am J Med Genet B Neuropsychiatr Genet
Year
2010
Volume
vol. 153B:
Pages
p.1173-1178
Authors
Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores g, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S
Title
Gaucher disease ascertained through a Parkinson’s center: Imaging and clinical characterization.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.1364-1372
Authors
Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M
Title
Impaired sense of smell and color discrimination in mongenic and idiopathic Parkinson disease.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.2665-2669
Authors
Kasten M, Brüggemann N, Schmidt A, Klein C
Title
Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease.
Journal title
Neurology
Year
2010
Volume
vol. 75:
Pages
p.478
Authors
Brüggemann N, Schneider SA, Sander T, Klein C, Hagenah J
Title
Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.2661-2664
Authors
Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, Walter U, Wolters A, Steinlechner S, Zühlke C, Brockmann K, Klein C, Rolfs A, Binkofski F
Title
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.
Journal title
Cerebellum
Year
2010
Volume
vol. 9:
Pages
p.210-217
Authors
Saunders-Pullman R, Stanley K, Brüggemann N, Rayomend D, San Luciano M, Wang C, Klein C, Lubarr N, Ozelius L, Bressman SB, Hagenah J
Title
Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study.
Journal title
Parkinsonism Rel Disord
Year
2010
Volume
vol. 16:
Pages
p.420-422
Authors
Stanley K, Hagenah J, Brüggemann N, Reety K, Severt L, Klein C, Yu Q, Derby C, Pullman S, Saunders-Pullman R
Title
Digitized spiral analysis is a promising early motor marker for Parkinson disease.
Journal title
Parkinsonism Rel Disord
Year
2010
Volume
vol. 16:
Pages
p.233-234
Authors
Zittel S, Moll CKE, Brüggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Schönweiler R, Hagenah J, Klein C, Münchau A, Schneider SA
Title
Clinical, neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.2405-2412
Authors
Machner B, Sprenger A, Behrens MI, Ramirez A, Brüggemann N, Klein C, Helmchen C
Title
Eye movement disorders in ATP13A2 mutation carriers (PARK9).
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.2687-2689
Authors
Kaiser FJ, Osmanovic A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C (gleichberechtigter Letztautor), Lohmann K
Title
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
Journal title
Ann Neurol
Year
2010
Volume
vol. 68:
Pages
p.554-559
Authors
Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, Campbell S, Hayward C, Volpato CB, Pattaro C, Vitart V, wright A, Campbell H, Klein C, Pramstaller P
Title
Variation in the uric acid transporter gene SLC2A9 wand its association with AAO of Parkinson’s disease.
Journal title
J Mol Neurosci
Year
2010
Volume
vol. 43:
Pages
p.246-250
Authors
Kasten M, Tadic V, Klein C, Rocca WA, Savica R, Eric Ahlskog J, Grossardt BR
Title
Anemia or low hemoglobin levels preceding Parkinson disease: a case-control study.
Journal title
Neurology
Year
2010
Volume
vol. 74:
Pages
p.1655
Authors
Kagi G, Klein C, Wood NW, Schneider SA, Pramstaller PP, Tadic V, Quinn NP, van de Warrenburg BP, Bhatia KP
Title
Non-motor symptoms in parkin gene-related parkinsonism.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.1279-1284
Authors
Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA
Title
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
Journal title
Clin Genet
Year
2010
Volume
vol. 78:
Pages
p.594-597
Authors
Knoth R, Singec I, Ditter M, Pantazis G, Capetian P, Meyer RP, Horvat V, Volk B, Kempermann G
Title
Murine features of neurogenesis in the human hippocampus across the lifespan from 0 to 100 years.
Journal title
PLoS One
Year
2010
Volume
vol. 5:
Pages
p.e8809
Authors
Brüggemann N, Gottschalk S, Holl-Ulrich K, Stewen J, Heide W, Seidel G
Title
Cranial pachymeningitis: a rare neurological syndrome with heterogeneous etiology.
Journal title
J Neurol Neurosurg Psychiatry
Year
2010
Volume
vol. 81:
Pages
p.294-298
Authors
Popat RA, Van Den Eeden SK, Tanner CM, Kushida CA, Rama AN, Black JE, Bernstein A, Kasten M, Chade A, Leimpeter A, Cassidy J, McGuire V, Nelson LM
Title
Reliability and validity of two self-administered questionnaires for screening restless legs syndrome in population-based studies.
Journal title
Sleep Med
Year
2010
Volume
vol. 11:
Pages
p.154-160
Authors
Kumar KR, Ng K
Title
Don't hold your breath: anoxic convulsions from coupled hyperventilation-underwater breath-holding.
Journal title
Med J Aust
Year
2010
Volume
vol. 192:
Pages
p.663-664
Authors
Kumar KR, Needham M, Mina K, Davis M, Brewer J, Staples C, Ng K, Sue CM, Mastaglia FL
Title
Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: novel clinical and genetic findings.
Journal title
Neuromuscul Disord
Year
2010
Volume
vol. 20:
Pages
p.330-334
Authors
Kumar KR, Ng K
Title
Reduced facial nerve hyperexcitability from contralateral cerebral stroke in hemifacial spasm.
Journal title
Mov Disord
Year
2010
Volume
vol. 25:
Pages
p.1310-1312
Authors
Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM
Title
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
Journal title
Muscle Nerve
Year
2010
Volume
vol. 41:
Pages
p.412-415
Authors
Kasten M, Kertelge K, Brüggemann N, van der Vegt J, Schmidt A, Tadic V, Buhmann C, Steinlechner S, Behrens MI, Ramirez A, Binkofski F, Siebner H, Raspe H, Hagenah J, Lencer R, Klein C.
Title
Nonmotor symptoms in genetic Parkinson disease.
Journal title
Arch Neurol
Year
2010
Volume
vol. 67:
Pages
p.670-676
Authors
Sperner J, Spiegler J, Brüggemann N, Schneider S, Klein C, Boor R
Title
Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy.
Journal title
Neuropediatrics
Year
2010
Volume
vol. 41:
Pages
p.V1281
Authors
Zschiedrich K, König IR, Brüggemann N, Kock N, Kasten M, Leenders KL, Kostic V, Vieregge P, Ziegler A, Klein C, Lohmann K
Title
MDR1 variants and risk of Parkinson disease: Association with pesticide exposure?
Journal title
J Neurol
Year
2009
Volume
vol. 256:
Pages
p.115-120
Authors
Gierthmühlen J, Lienau F, Maag R, Hagenah JM, Deuschl G, Fritzer E, Klein C, Baron R, Helmchen C
Title
Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease.
Journal title
J Neurol Neurosurg Psychiatry
Year
2009
Volume
vol. 80:
Pages
p.571-574
Authors
Reetz K, Gaser C, Klein C, Hagenah J, Büchel C, Gottschalk S, Pramstaller PP, Siebner HR, Binkofski F
Title
Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson’s disease.
Journal title
Mov Disord
Year
2009
Volume
vol. 24:
Pages
p.99-103
Authors
Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat M-R, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A
Title
Genetic association study of the P-type ATPase ATP13A2 in late onset Parkinson disease.
Journal title
Mov Disord
Year
2009
Volume
vol. 24:
Pages
p.429-433
Authors
van Nuenen BFL, Weiss MW, Bloem BR, Reetz K, v Eimeren T, Lohmann K, Hagenah JM, Pramstaller P, Binkofski F, Klein C, Siebner HR
Title
Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype.
Journal title
Neurology
Year
2009
Volume
vol. 72:
Pages
p.1041-1047
Authors
Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K
Title
Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers.
Journal title
Parkinsonism Rel Disord
Year
2009
Volume
vol. 15:
Pages
p.425-429
Authors
Brüggemann N, Kock N, König IR, Rakovic A, Hagenah J, Schmidt A, Lohmann K, Ziegler A, Jabusch HC, Siebner H, Altenmüller E, Münchau A, Klein C
Title
The D216 variant in the DYT1 gene – a susceptibility factor for dystonia in familial cases.
Journal title
Neurology
Year
2009
Volume
vol. 72:
Pages
p.1441-1443
Authors
Schmidt A, Jabusch H-C, Altenmüller E, Hagenah J, Brüggemann N, Lohmann K, Enders L, Kramer PL, Saunders-Pullman R, Bressman SB, Münchau A, Klein C
Title
Etiology of musician’s dystonia: familial or environmental?
Journal title
Neurology
Year
2009
Volume
vol. 72:
Pages
p.1248-1254
Authors
Paus S, Gadow F, Knapp M, Klein C, Klockgether T, Wüllner U
Title
Motor complications in patients from the German Competence Network on Parkinson’s disease and the DRD3 Ser9Gly polymorphism.
Journal title
Mov Disord
Year
2009
Volume
vol. 24:
Pages
p.1080-1084
Authors
Hertel S, Sprenger A, Klein C, Kömpf D, Helmchen C, Kimmig H
Title
Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson’s disease.
Journal title
J Neurol
Year
2009
Volume
vol. 256:
Pages
p.1192-1194
Authors
Lencer R, Steinlechner S, Stahlberg J, Rehling H, Orth M, Bäumer T, Rumpf H-J, Meyer C, Klein C, Münchau A, Hagenah J
Title
Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles.
Journal title
J Neurol Neurosurg Psychiatry
Year
2009
Volume
vol. 80:
Pages
p.1176-1179
Authors
Netzer C, Klein C, Kohlhase J, Kubisch C
Title
New challenges for informed consent through whole-genome array testing.
Journal title
J Med Genet
Year
2009
Volume
vol. 46:
Pages
p.495-496
Authors
Grünewald A, Gegg ME, Taanman J-W, King RH, Kock N, Klein C, Schapira AHV
Title
Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.
Journal title
Exp Neurol
Year
2009
Volume
vol. 219:
Pages
p.266-273
Authors
Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadic V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostic VS, Volkmann J, Gasser T, Klein C
Title
ATP13A2 variants in early-onset Parkinson’s disease patients and controls.
Journal title
Mov Disord
Year
2009
Volume
vol. 24:
Pages
p.2104-2111
Authors
Van Nuenen BFL, van Eimeren T, van der Vegt JPM, Buhmann C, Klein C, Bloem BR, Siebner HR
Title
Mapping preclinical compensation in Parkinson’s disease: am imaging genomics approach.
Journal title
Mov Disord
Year
2009
Volume
vol. 24:
Pages
p.S703-S710
Authors
Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs R, Berg D, Paisan-Ruiz C. Lichtner P, Scholz SW, Hernandez DG, Krüger R, Federoff, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Foote KD, Fernandez HH, Schreiber S, Arepalli S, Zonozi R, Gwinn K, Lopez G, Chanock SJ, Schatzkin A, Park Z, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T
Title
Genome-wide assocation study reveals genetic risk underlying Parkinson’s disease.
Journal title
Nature Genet
Year
2009
Volume
vol. 41:
Pages
p.1308-1312
Authors
Reetz K, Hagenah J, Gaser C, Schneider SA, Pramstaller PP, Siebner HR, Klein C, Binkofski F
Title
Time dependent reduction of striatal hypertrophy in Parkin mutation carriers. A longitudinal VBM study.
Journal title
NeuroImage
Year
2009
Volume
vol. 47:
Pages
p.S103
Authors
Capetian P, Knoth R, Maciaczyk J, Pantazis G, Ditter M, Bokla L, Landwehrmeyer GB, Volk B, Nikkhah G
Title
Histological findings on fetal striatal grafts in a Huntington's disease patient early after transplantation.
Journal title
Neuroscience
Year
2009
Volume
vol. 160:
Pages
p.661-675
Authors
Killer N, Hock M, Gehlhaus M, Capetian P, Knoth R, Pantazis G, Volk B, Meyer RP
Title
Modulation of androgen and estrogen receptor expression by antiepileptic drugs and steroids in hippocampus of patients with temporal lobe epilepsy.
Journal title
Epilepsia
Year
2009
Volume
vol. 50:
Pages
p.1875-1890
Authors
Guerreiro S, Ponceau A, Toulorge D, Martin E, Alvarez-Fischer D, Hirsch EC, Michel PP
Title
Protection of Midbrain Dopaminergic Neurons by the End-Product of Purine Metabolism Uric Acid: Potentiation by Low-Level Depolarization.
Journal title
J Neurochem
Year
2009
Volume
vol. 109:
Pages
p.1118-1128
Authors
Brochard V, Combadière B, Prigent A, Laouar Y, Perrin A, Beray-Berthat V, Bonduelle O, Alvarez-Fischer D, Callebert J, Launay JM, Duyckaerts C, Flavell RA, Hirsch EC, Hunot S
Title
Brain infiltration of CD4 lymphocytes contributes to neurodegeneration in Parkinson’s disease mode.
Journal title
. J Clin Invest
Year
2009
Volume
vol. 119:
Pages
p.182-192
Authors
Kumar KR, Hon K, Schultz D, Agzarian MJ, Jones DN, Thyagarajan D
Title
Transient changes on brain magnetic resonance imaging in a patient with sturge-weber syndrome presenting with hemiparesis.
Journal title
Neurologist
Year
2009
Volume
vol. 15:
Pages
p.351-354
Authors
Kumar KR, Kleinig T
Title
Neurological picture. "Malignant" ischaemic stroke of an entire cerebral hemisphere.
Journal title
J Neurol Neurosurg Psychiatry
Year
2009
Volume
vol. 80:
Pages
p.87
Authors
Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brüggemann N, Zittel S, Fuchs T, Raković A, Schmidt A, Jabusch HC, Wilcox R, Kostić VS, Siebner H, Altenmüller E, Münchau A, Ozelius LJ, Klein C
Title
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Journal title
Lancet Neurol
Year
2009
Volume
vol. 8:
Pages
p.447-452
Authors
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson M, Tan E-K, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, van Broeckhoven C, Farrer MJ, Wszolek ZK
Title
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson’s disease.
Journal title
Neurology
Year
2008
Volume
vol. 70:
Pages
p.1456-1460
Authors
Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König I, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C
Title
Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci?
Journal title
Neurology
Year
2008
Volume
vol. 70:
Pages
p.686-694
Authors
Moro E, Volkmann J, König IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohman K, Pinsker MO, Voges J, Djarmati A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C
Title
Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.
Journal title
Neurology
Year
2008
Volume
vol. 70:
Pages
p.1186-1191
Authors
Paus S, Grünewald A, Klein C, Knapp M, Zimprich A, Janetzky B, Möller C, Klockgether T, Wüllner U
Title
The DRD TaqIA polymorphism and demand of dopaminergic medication in Parkinson’s disease.
Journal title
Mov Disord
Year
2008
Volume
vol. 23:
Pages
p.599-602
Authors
Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Harris J, Ford B, Frucht S, Heiman GA, Jennings D, Doheny D, Brin MF, de Leon D, Multhaupt-Buell T, Lang AE, Kurlan R, Klein C, Ozelius L, Bressman S
Title
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Journal title
Mov Disord
Year
2008
Volume
vol. 23:
Pages
p.588-592
Authors
Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O’Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C
Title
Myoclonus-dystonia: Significance of large SGCE deletions.
Journal title
Hum Mutat
Year
2008
Volume
vol. 29:
Pages
p.331-332
Authors
Seibler P, Djarmati A, Langpap B, Hagenah J, Schmidt A, Brüggemann N, Siebner H, Jabusch H-C, Altenmüller E, Münchau A, Lohmann K, Klein C
Title
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
Journal title
Lancet Neurol
Year
2008
Volume
vol. 7:
Pages
p.380-381
Authors
DeStefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint/Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Dhinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
Title
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
Journal title
Hum Genet
Year
2008
Volume
vol. 124:
Pages
p.95-99
Authors
Reetz K, Lencer R, Steinlechner S, Gaser C, Hagenah J, Büchel C, Petersen D, Kock N, Djarmati A, Siebner HR, Klein C, Binkofski F
Title
Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers.
Journal title
Biol Psych
Year
2008
Volume
vol. 64:
Pages
p.241-247
Authors
Facheris MF, Maniak S, Scaravilli F, Schüle B, Klein C, Pramstaller PP
Title
Pure akinesia as initial presentation of PSP: a clinicopathological study.
Journal title
Parkinsonism Rel Disord
Year
2008
Volume
vol. 14:
Pages
p.517-519
Authors
Guettard E, Portnio MF, Lohmann-Hedrich K, Keren B, Rossignol S, Winkler S, El Kamel I, Leu S, Apartis E, Vidailhet M, Klein C, Roze E.
Title
Myoclonus-dystonia due to maternal uniparental disomy.
Journal title
Arch Neurol
Year
2008
Volume
vol. 65:
Pages
p.1380-1385
Authors
Brüggemann N, Odin P, Grünewald A, Tadic V, Hagenah J, Seidel G, Lohmann K, Klein C, Djarmati A
Title
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.
Journal title
Neurology
Year
2008
Volume
vol. 71:
Pages
p.1294
Authors
Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten FG, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C,
Saint-Hilaire M-H, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, DeStefano AL,
Litvan I, Nicholson G, Corbett AJ, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
Title
Haplotypes and gene expression implicate the MAPT region for
Parkinson disease: The GenePD Study.
Journal title
Neurology
Year
2008
Volume
vol. 71:
Pages
p.28-34
Authors
Muhle H, Neumann A, Lohmann-Hedrich K, Lohnau T, Lu Y, Winkler S, Waltz S, Fischenbeck A, Kramer PL, Klein C, Stephani U
Title
Childhood-onset restless legs syndrome: Clinical and genetic features of 22 families.
Journal title
Mov Disord
Year
2008
Volume
vol. 23:
Pages
p.1113-1121
Authors
Kamm C, Fischer H, Garavaglia B, Kullmann S, Sharma M, Schrader C, Grundmann K, Klein C, Borggräfe I, Lobsien E, Nardocci N, Gasser T
Title
Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.
Journal title
Neurology
Year
2008
Volume
vol. 70:
Pages
p.2261-2262
Authors
Hagenah JM, Becker B, Brüggemann N, Djarmati A, Lohmann K, Sprenger A, Klein C, Seidel G
Title
Transcranial sonography findings in a large family with homo- and heterozygous PINK1 mutations.
Journal title
J Neurol Neurosurg Psychiatry
Year
2008
Volume
vol. 79:
Pages
p.1071-1074
Authors
McNicoll CF, Latourelle JC, MacDonald PhD ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker K, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH
Title
Huntington CAG repeat size does not modify onset age in familial Parkinson’s disease: The Gene PD Study.
Journal title
Mov Disord
Year
2008
Volume
vol. 23:
Pages
p.1596-1601
Authors
Healy DG, Falchi M, O’Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW, and the Worldwide LRRK2 Consortium
Title
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
Journal title
Lancet Neurol
Year
2008
Volume
vol. 7:
Pages
p.583-590
Authors
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I
Title
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson’s disease: the GenePD study.
Journal title
BMC Medicine
Year
2008
Volume
vol. 6:
Pages
p.32
Authors
Reetz K, Siebner HR, Gaser C, Hagenah J, Buechel C, Kasten M, Petersen D, Pramstaller PP, Klein C, Binkofksi F
Title
Premotor Gray Matter Volume is Associated with Clinical Findings in Idiopathic and Genetically Determined Parkinson's Disease.
Journal title
Open Neuroimag J
Year
2008
Volume
vol. 2:
Pages
p.102-105
Authors
Brueggemann N, Doegnitz L, Harms L, Moser A, Hagenah J
Title
Skin reactions after intramuscular injection of Botulinum toxin A: A rare side effect.
Journal title
J Neurol Neurosurg Psychiatry
Year
2008
Volume
vol. 79:
Pages
p.231-232
Authors
Alvarez-Fischer D, Guerreiro S, Hunot S, Saurini F, Marien M, Sokoloff P, Hirsch EC, Hartmann A, Michel PP
Title
Modelling Parkinson-like neurodegeneration via osmotic minipump delivery of MPTP and probenecid.
Journal title
J Neurochem
Year
2008
Volume
vol. 107:
Pages
p.701-711
Authors
Salazar J, Mena N, Hunot S, Prigent A, Alvarez-Fischer D, Arredondo M, Duyckaerts C, Sazdovitch V, Zhao L, Garrick LM, Nuñez MT, Garrick MD, Raisman-Vozari R, Hirsch EC
Title
Divalent metal transporter 1 (DMT1) contributes to neurodegeneration in animal models of Parkinson’s disease.
Journal title
PNAS
Year
2008
Volume
vol. 105:
Pages
p.18578-18583
Authors
Dejaegere T, Serneels L, Schäfer MK, Van Biervliet J, Horré K, Depboylu C, Alvarez-Fischer D, Willem M, Haass C, Höglinger GU, D’Hooge R, De Strooper B
Title
Deficiency of Aph1B/C g-Secretase disturbs Nrg1 cleavage and sensorimotor gating which can be reversed with antipsychotic treatment.
Journal title
PNAS
Year
2008
Volume
vol. 105:
Pages
p.9775-9780
Authors
Alvarez-Fischer D, Henze C, Strenzke C, Westrich J, Ferger B, Höglinger GU, Oertel WH, Hartmann A
Title
Characterization of the striatal 6-OHDA model of Parkinson’s disease in wild type and α-synuclein-deleted mice.
Journal title
Exp Neurol
Year
2008
Volume
vol. 210:
Pages
p.182-193
Authors
Kemlink D, Polo O, Montagna P, Provini F, Stiasny-Kolster K, Oertel W, de Weerd A, Nevsimalova S, Sonka K, Högl B, Frauscher B, Poewe W, Trenkwalder C, Pramstaller PP, Ferini-Strambi L, Zucconi M, Konofal E, Arnulf I, Hadjigeorgiou GM, Happe S, Klein C, Hiller A, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J
Title
A family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.207-212
Authors
Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJM, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MAJ, Webb D, Zaremba J, Bressman SB, Ozelius LJ
Title
The phenotypic spectrum of rapid-onset dystonia parkinsonism (RDP) and mutations in the ATP1A3 gene.
Journal title
Brain
Year
2007
Volume
vol. 130:
Pages
p.828-835
Authors
Grünewald A, Breedveld GJ, Hedrich-Lohmann K, Rohe CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V
Title
Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis.
Journal title
Neurogenetics
Year
2007
Volume
vol. 8:
Pages
p.103-109
Authors
Hess CW, Raymond D, de Carvalho Aguiar P, Frucht S, Shriberg J, Heiman GA, Kurlan R, Klein C, Bressman SB, Ozelius, Saunders-Pullman R
Title
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
Journal title
Neurology
Year
2007
Volume
vol. 68:
Pages
p.522-524
Authors
Eggert K, Wüllner U, Anthony G, Gasser T, Janetzky B, Klein C, Schöls L, Oertel WH
Title
Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany).
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.611-618
Authors
Steinlechner S, Stahlberg J, Völkel B, Djarmati A, Hagenah J, Hiller A, Hedrich K, König I, Klein C, Lencer R
Title
Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations.
Journal title
J Neurol Neurosurg Psychiatry
Year
2007
Volume
vol. 78:
Pages
p.532-535
Authors
Clark LN, Haamer E, Mejia-Santana H, Harris J, Lesage S, Durr A, Janin S, Hedrich K, Louis ED, Cote LC, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Scott W, Klein C, Brice A, Roomere H, Ottman R, Marder K
Title
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.932-937
Authors
Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE
Title
Deciphering the role of heterozygous mutations in genes associated with parkinsonism.
Journal title
Lancet Neurol
Year
2007
Volume
vol. 6:
Pages
p.652-662
Authors
Hagenah JM, Reetz K, Zühlke C, Rolfs A, Binkofski F, Klein C
Title
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Journal title
Neurology
Year
2007
Volume
vol. 68:
Pages
p.2157-2158
Authors
Binkofski F, Reetz K, Gaser C, Hilker R, Hagenah J, Hedrich K, v Eimeren T, Thiel A, Büchel C, Pramstaller PP, Siebner HR, Klein C
Title
Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia.
Journal title
Neurology
Year
2007
Volume
vol. 69:
Pages
p.842-850
Authors
Hübner J, Sprenger A, Klein C, Hagneah J, Rambold H, Zühlke C, Kömpf D, Rolfs A, Kommig H, Helmchen C
Title
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
Journal title
Neurology
Year
2007
Volume
vol. 69:
Pages
p.1160-1168
Authors
Bäumer T, Pramstaller PP, Schippling S, Hagenah J, Peller M, Gerloff C, Siebner HR, Klein C, Münchau A
Title
Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers – a TMS study.
Journal title
Neurology
Year
2007
Volume
vol. 69:
Pages
p.1976-1981
Authors
Djarmati A, Guzvic M, Grünewald A, Lang AE, Pramstaller PP, Simon DK, Kaindl AM, Vieregge P, Nygren AOH, Beetz C, Hedrich K, Klein C
Title
Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.1708-1714
Authors
Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C
Title
Alpha-Synuclein and Parkinson’s disease susceptibility.
Journal title
Neurology
Year
2007
Volume
vol. 69:
Pages
p.1745-1750
Authors
Hagenah JM, König IR, Becker B, Hilker R, Kasten M, Hedrich K, Pramstaller PP, Klein C, Seidel G
Title
Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles.
Journal title
J Neurol
Year
2007
Volume
vol. 254:
Pages
p.1407-1413
Authors
Winkler S, König I, Lohmann-Hedrich K, Vieregge P, Kostic V, Klein C
Title
Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson disease.
Journal title
Eur J Hum Genet
Year
2007
Volume
vol. 15:
Pages
p.1163-1168
Authors
Orth M, Djarmati A, Bäumer T, Winkler S, Grünewald A, Lohmann-Hedrich K, Kabakci K, Hagenah J, Klein C, Münchau A
Title
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.2090-2096
Authors
Alvarez-Fischer D, Blessmann G, Trosowski C, Béhé M, Schurrat T, Hartmann A, Oertel WH, Höglinger GU, Höffken H
Title
Quantitative 123I-FP-CIT pinhole SPECT imaging predicts striatal dopamine levels, but not number of nigral neurons in different mouse models of Parkinson’s disease.
Journal title
NeuroImage
Year
2007
Volume
vol. 38:
Pages
p.005-012
Authors
Höglinger GU, Breunig JJ, Depboylu C, Rouaux C, Michel PP, Alvarez-Fischer D, Boutillier AL, DeGregori J, Oertel WH, Rakic P, Hirsch EC, Hunot S
Title
The pRb/E2F cell-cycle pathway mediates cell death in Parkinson’s disease.
Journal title
PNAS
Year
2007
Volume
vol. 104:
Pages
p.3585-3590
Authors
Michel PP, Alvarez-Fischer D, Guerreiro S, Hild A, Hartmann A, Hirsch EC
Title
Role of Activity-Dependent Mechanisms in the Control of Dopaminergic Neuron Survival.
Journal title
J Neurochem
Year
2007
Volume
vol. 101:
Pages
p.289-297
Authors
Cerovac N, Petrović I, Klein C, Kostić VS
Title
Delayed-onset dystonia due to perinatal asphyxia: a prospective study.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.2426-2429
Authors
Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S
Title
MECP2 mutations in Serbian Rett syndrome patients.
Journal title
Acta Neurol Scand
Year
2007
Volume
vol. 116:
Pages
p.413-419
Authors
Hiller A, Hagenah JM, Djarmati A, Hedrich K, Reetz K, Schneider-Gold C, Kress W, Münchau A, Klein C
Title
Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
Journal title
Mov Disord
Year
2007
Volume
vol. 22:
Pages
p.145-147
Authors
Van Hove JLK, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, Moller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P
Title
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
Journal title
J Neurol Neurosurg Psychiatry
Year
2006
Volume
vol. 77:
Pages
p.18-23
Authors
Ozelius LJ, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman S
Title
LRRK2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews.
Journal title
New Engl J Med
Year
2006
Volume
vol. 354:
Pages
p.424-425
Authors
Dragasevic NT, Culjkovic B, Klein C, Ristic A, Keckarevic M, Topisirovic I, Vukosavic S, Svetel M, Kock N, Stefanova E, Romac S, Kostic VS
Title
Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.187-191
Authors
Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C
Title
Co-occurrence of restless legs syndrome and Parkin mutations in two families.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.258-263
Authors
Gerrits MC, Foncke EM, de Haan R, Hedrich K, van de Leemput YL, Baas F, Ozelius LJ, Speelman JD, Klein C, Tijssen MA
Title
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
Journal title
Neurology
Year
2006
Volume
vol. 66:
Pages
p.759-761
Authors
Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St. George-Hyslop P, Klein C, Lang AE
Title
Homozygous and heterozygous PINK1 mutations:  Considerations for diagnosis and care of Parkinson’s disease patients.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.875-879
Authors
Klein C, Grünewald A, Hedrich K
Title
Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
Journal title
Neurology
Year
2006
Volume
vol. 66:
Pages
p.1129-1130
Authors
Hedrich K, Hagenah J, Djarmati A, Hiller A, Lohnau T, Lasek K, Grünewald A, Hilker R, Steinlechner S, Boston H, Kock N, Schneider-Gold C, Kress W, Siebner H, Binkofski F, Lencer R, Münchau A, Klein C
Title
Clinical spectrum of homo-and heterozygous PINK1 mutations in a large German family with Parkinson’s disease: Role of a single hit?
Journal title
Arch Neurol
Year
2006
Volume
vol. 63:
Pages
p.833-838
Authors
Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF
Title
Heterozygosity for Parkin mutation influences onset age in familial Parkinson’s disease: The GenePD Study.
Journal title
Arch Neurol
Year
2006
Volume
vol. 63:
Pages
p.826-832
Authors
Nitschke MF, Erdmann C, Trillenberg P, Sprenger A, Kock N, Sperner J, Klein C
Title
Functional MRI reveals activation of a subcortical network in a 5-year old girl with genetically confirmed myoclonus-dystonia.
Journal title
Neuropediatrics
Year
2006
Volume
vol. 37:
Pages
p.79-82
Authors
Hagenah JM, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C
Title
Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography.
Journal title
Neurology
Year
2006
Volume
vol. 66:
Pages
p.1951-1952
Authors
Pichler I, Marroni F, Volpato CB, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP
Title
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
Journal title
Am J Hum Genet
Year
2006
Volume
vol. 79:
Pages
p.716-723
Authors
Schmidt A, Jabusch H-C, Altenmüller E, Hagenah J, Brüggemann N, Hedrich K, Saunders-Pullman R, Bressman SB, Kramer PL, Klein C
Title
Dominantly transmitted focal dystonia in families of patients with musician’s cramp.
Journal title
Neurology
Year
2006
Volume
vol. 67:
Pages
p.691-693
Authors
Helmchen C, Schwekendiek A, Pramstaller P, Hedrich K, Klein C, Rambold H
Title
Blink amplitude but not saccade hypometria indicates carriers of Parkin mutations .
Journal title
J Neurol
Year
2006
Volume
vol. 253:
Pages
p.1071-1075
Authors
Foncke EM, Gerrits MC, van Ruissen F, Baas F, Hedrich K, Tijssen CC, Klein C, Tijssen MA
Title
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
Journal title
Neurology
Year
2006
Volume
vol. 67:
Pages
p.1677-1680
Authors
Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Beu Volpato C, Aridon P, Mayer T, Meitinger T, Klein C, Casari G, Pramstaller PP
Title
Restless legs syndrome: epidemiological and clinico-genetic study in a South Tyrolean population isolate.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.1189-1195
Authors
Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostic V, Klein C
Title
Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease?
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.1526-1530
Authors
Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C
Title
Recurrent LRRK2 (PARK8) mutations occur in early-onset Parkinson´s disease.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.1506-1510
Authors
Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, Wolters A, Kock N, Steinlechner S, Nagel M, Zühlke C, Nitschke M-F, Brockmann K, Klein C, Rolfs A, Binkofski F
Title
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
Journal title
Brain
Year
2006
Volume
vol. 129:
Pages
p.2341-2352
Authors
Kostic V, Svetel M, Kabakci K, Ristic A, Petrovic I, Schüle B, Kock N, Djarmati A, Romac S, Klein C
Title
Intrafamilial phenotypic and genetic heterogeneity of dystonia.
Journal title
J Neurol Sci
Year
2006
Volume
vol. 250:
Pages
p.92-96
Authors
Wilk JB, Tobin JE, Suchowersky O, Shill H, Klein C, Wooten GF, Lew M, Mark MH, Guttman M, Watts RL, Singer C, Growdon J, Latourelle JC, Saint-Hilaire M, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker K, Giroux ML, Litvan I, Pramstaller PP, Nicholson GA, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI
Title
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study.
Journal title
Neurology
Year
2006
Volume
vol. 67:
Pages
p.2206-2210
Authors
Stefanova E, Djarmati A, Momcilovic D, Svetel M, Klein C, Kostic VS
Title
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in a Serbian family with a Myofibrillogenesis regulator 1 gene mutation.
Journal title
Mov Disord
Year
2006
Volume
vol. 21:
Pages
p.2010-2015
Authors
Zivković M, Raković A, Stanković A
Title
Allele-specific detection of C-1562T polymorphism in the matrix metalloproteinase-9 gene: genotyping by MADGE.
Journal title
Clin Biochem
Year
2006
Volume
vol. 39:
Pages
p.630-632
Authors
Lu L, Neff F, Alvarez Fischer D, Henze C, Hirsch EC, Oertel WH, Schlegel J, Hartmann A
Title
Regional vulnerability of mesencephalic dopaminergic neurons in Parkinson´s disease: A human postmortem gene expression profiling study.
Journal title
Neurobiol disease
Year
2006
Volume
vol. 23:
Pages
p.409-421
Authors
Chade AR, Kasten M, Tanner CM
Title
Nongenetic causes of Parkinson's disease.
Journal title
J Neural Transm Suppl
Year
2006
Volume
vol. 70:
Pages
p.147-151
Authors
Hagenah J, Saunders-Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, Mohrmann K, Lohnau T, Raymond D, Vieregge P, Nygaard T, Ozelius LJ, Bresmman SB, Klein C
Title
High mutation rate in dopa-responsive dystonia with comprehensive GCHI screening.
Journal title
Neurology
Year
2005
Volume
vol. 64:
Pages
p.908-911
Authors
Kahl KG, Trillenberg P, Kordon A, Lencer R, Klein C, Hagenah J
Title
Therapie der Clozapin-induzierten Hypersalivation mit Botulinum-Toxin B – eine Kasuistik.
Journal title
Nervenarzt
Year
2005
Volume
vol. 76:
Pages
p.205-208
Authors
Kabakci K, Isbruch K, Schilling K, Hedrich K, de Carvalho Aguiar P, Ozelius LJ, Kramer PL, Schwarz MHRM, Klein C
Title
Genetic heterogeneity in rapid-onset dystonia-parkinsonism: Description of a new family.
Journal title
J Neurol Neurosurg Psychiatry
Year
2005
Volume
vol. 76:
Pages
p.860-862
Authors
Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel W, Bauer P, Krueger R, Gasser T, Riess O
Title
Alpha-synuclein and Parkinson’s disease – implications from the screening of more than 1900 patients.
Journal title
Mov Disord
Year
2005
Volume
vol. 20:
Pages
p.1191-1194
Authors
Hedrich K, Pramstaller PP, Stübke K, Hiller A, Kabakci K, Purmann S, Kasten M, Scaglione C, Schwinger E, Volkmann J, Kostic V, Vieregge P, Martinelli P, Abbruzzese G, Klein C, Zühlke C
Title
Premutations in the FMR1 gene as a modifying factor in Parkin-associated parkinsonism?
Journal title
Mov Disord
Year
2005
Volume
vol. 20:
Pages
p.1060-1062
Authors
Karamohamed S, Golbe LI, Mark MH, Lazzarini AM, Suchowersky O, Labelle N, Guttman, M, Currie LJ, Wooten GF, Stacy M, Saint-Hilaire M, Feldman RG, Liu J, Shoemaker CM, Wilk JB, DeStefano AL, Latourelle JC, Xu G, Watts R, Growdon J, Lew M, Waters C, Vieregge P, Pramstaller PPP, Klein C, Racette BA, Perlmutter JS, Parsian A, Singer C, Montgomery E, Baker K, Gusella JF, Herbert A, Myers RH
Title
Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson’s disease from the GenePD study.
Journal title
Mov Disord
Year
2005
Volume
vol. 20:
Pages
p.1188-1191
Authors
Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP
Title
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Journal title
Eur J Hum Genet
Year
2005
Volume
vol. 13:
Pages
p.1086-1093
Authors
Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C
Title
Lewy body Parkinson disease in a large pedigree with 77 Parkin mutation carriers.
Journal title
Ann Neurol
Year
2005
Volume
vol. 58:
Pages
p.411-422
Authors
Kis, B, Hedrich K, Kann M, Schwinger E, Kömpf D, Klein C, Pramstaller P
Title
Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications.
Journal title
Neurology
Year
2005
Volume
vol. 65:
Pages
p.761
Authors
Djarmati A, Svetel M, Momcilovic D, Kostic V, Klein C
Title
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene.
Journal title
Arch Neurol
Year
2005
Volume
vol. 62:
Pages
p.1641
Authors
Buhmann C, Binkofski F, Klein C, Büchel C, van Eimeren T, Erdmann C, Hedrich K, Kasten M, Hagenah J, Deuschl G, Pramstaller PP, Siebner HR
Title
Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism.
Journal title
Brain
Year
2005
Volume
vol. 128:
Pages
p.2281-2290
Authors
Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew M, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire M, DeStefano AL, Prakash R, Tobin S, Williamson J, Suchowersky O, Labell N, Growdon BN, Singer C, Watts R, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery P, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A
Title
BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study.
Journal title
Neurology
Year
2005
Volume
vol. 65:
Pages
p.1823-1825
Authors
Jabusch HC, Zschucke D, Schmidt A, Schüle S, Altenmüller E
Title
Focal dystonia in musicians: treatment strategies and long-term outcome in 144 patients.
Journal title
Mov Disord
Year
2005
Volume
vol. 20:
Pages
p.1623-1626
Authors
Lu L, Neff F , Alvarez-Fischer D, Henze C, Oertel WH, Schlegel J and Hartmann A
Title
Gene expression profiling of Lewy body-bearing neurons in Parkinson´s disease.
Journal title
Exp Neurol
Year
2005
Volume
vol. 195:
Pages
p.27-39
Authors
Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman S, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C
Title
The R98Q variation in DJ-1 represents a rare polymorphism.
Journal title
Ann Neurol
Year
2004
Volume
vol. 55:
Pages
p.145
Authors
Hedrich K, Djarmati A, Schäfer N, Hering R, Wellenbrock C, Weiss PH, Hilker R, Vieregge P, Ozelius LJ, Heutink P, Bonifati V, Schwinger E, Lang AE, Noth J, Bressman SB, Pramstaller PP, Riess O, Klein C
Title
DJ-1 mutations are less frequent than Parkin mutations in early-onset Parkinson’s disease.
Journal title
Neurology
Year
2004
Volume
vol. 62:
Pages
p.389-394
Authors
Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C
Title
Mutations in DYT1: Extension of the phenotypic and mutational spectrum.
Journal title
Neurology
Year
2004
Volume
vol. 62:
Pages
p.395-400
Authors
Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Pramstaller PP, Nitschke MS, Sperner J, Klein C.
Title
Clinical and genetic features of myoclonus-dystonia in three cases: a video presentation.
Journal title
Mov Disord
Year
2004
Volume
vol. 19:
Pages
p.231-234
Authors
Hagenah J, Zühlke C, Hellenbroich Y, Heide W, Klein C.
Title
Focal dystonia as presenting sign of SCA17.
Journal title
Mov Disord
Year
2004
Volume
vol. 19:
Pages
p.217-220
Authors
Hedrich K, Meyer E-M, Schüle B, Kock N, de Carvalho Aguiar P, Wiegers K, Koelman JH, Garrels J, Dürr R, Liu L, Schwinger E, Ozelius LJ, Landwehrmeyer B, Stoessl, Tijssen MAJ, Klein C
Title
Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations.
Journal title
Neurology
Year
2004
Volume
vol. 62:
Pages
p.1229-1231
Authors
Kahl KG, Hagenah J, Zapf S, Trillenberg P, Klein C, Lencer R.
Title
Botulinum toxin as an effective treatment of clozapine-induced hypersalivation.
Journal title
Psychopharmacol
Year
2004
Volume
vol. 173:
Pages
p.229-230
Authors
Wang F, Denison S, Hall C, Kock N, Schüle B, Klein C, Shridhar V, Smith DI
Title
Parkin gene alterations in hepatocellular carcinoma.
Journal title
Gene Chromosome Canc
Year
2004
Volume
vol. 40:
Pages
p.85-96
Authors
Djarmati A, Hedrich K, Svetel M, Schäfer N, Juric V, Vukosavic S, Hering R, Riess O, Romac S, Klein C, Kostic V
Title
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.
Journal title
Hum Mut
Year
2004
Volume
vol. 23:
Pages
p.525
Authors
Schüle B, Kock N, Svetel M, Dragasevic N, Hedrich K, de Carvalho Aguiar P, Liu L, Kabakci K, Garrels J, Meyer E-M, Berisavac I, Schwinger E, Kramer PL, Ozelius LJ, Klein C, Kostic V
Title
Genetic heterogeneity in ten families with myoclonus-dystonia.
Journal title
J Neurol Neurosurg Psychiatry
Year
2004
Volume
vol. 75:
Pages
p.1181-1185
Authors
Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz E-M, Petrovic S, Bauer P, Schaible W, Müller T, Schöls L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Krüger R, Riess O
Title
Novel homozygous E64D mutation in DJ1 in early onset Parkinson disease (PARK7).
Journal title
Hum Mut
Year
2004
Volume
vol. 24:
Pages
p.321-329
Authors
Hedrich K, Eskelson C, Wilmot B, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman SB, Lang AE, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P
Title
Distribution and origin of Parkin mutations: Review and case studies.
Journal title
Mov Disord
Year
2004
Volume
vol. 19:
Pages
p.1146-1157
Authors
Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D
Title
Brain parenchyma sonography detects preclinical parkinsonism.
Journal title
Mov Disord
Year
2004
Volume
vol. 19:
Pages
p.1445-1449
Authors
Saunders-Pullman R, Blau N, Hyland K, Zschocke J, Nygaard T, Raymond D, Shanker V, Mohrmann K, Arnold L, Tabbal S, deLeon D, Ford B, Brin M, Chouinard S, Ozelius L, Klein C, Bressman SB
Title
Phenylalanine loading as a diagnostic test for DRD: Interpreting the utility of the test.
Journal title
Mol Genet Metab
Year
2004
Volume
vol. 83:
Pages
p.207-212
Authors
Lencer R, Eismann G, Kasten M, Kabakci K, Geithe V, Grimm J, Klein C
Title
Family history of primary movement disorders as a predictor for neuroleptic-induced extrapyramidal symptoms.
Journal title
Brit J Psychiat
Year
2004
Volume
vol. 185:
Pages
p.465-471
Authors
Alendar A, Culjkovic B, Savic D, Djarmati A, Keckarevic M, Ristic A, Dragasevic N, Kostic V, Romac S
Title
Spinocerebellar ataxia type 17 in Yugoslav population.
Journal title
Acta Neurol Scand
Year
2004
Volume
vol. 109:
Pages
p.185-187
Authors
Jöhren O, Brüggemann N, Dominiak P
Title
Orexins (hypocretins) and adrenal function.
Journal title
Hormone and Metabolic Research
Year
2004
Volume
vol. 36:
Pages
p.370-375
Authors
Ragert P, Schmidt A, Altenmüller E, Dinse HR
Title
Superior tactile performance and learning in professional pianists: evidence for meta-plasticity in musicians.
Journal title
Eur J Neurosci
Year
2004
Volume
vol. 19:
Pages
p.473-478
Authors
Wieczorek S, Dahmen N, Kasten M, Epplen JT, Gencik M
Title
A rare form of narcolepsy (HLA-DR2-) shows possible association with (functionally relevant) alpha-interferon gene polymorphisms.
Journal title
Psychiatr Genet
Year
2004
Volume
vol. 14:
Pages
p.47-51
Authors
Maniak S, Sieberer M, Hagenah J, Klein C, Vieregge P
Title
Focal and segmental primary dystonia in north-western Germany – a clinico-genetic study.
Journal title
Acta Neurol Scand
Year
2003
Volume
vol. 107:
Pages
p.228-232
Authors
Lincoln S, Wiley J, Lynch T, Langston W, Chen R, Lang A, Rogaeva E, Harris J, Marder K, Klein C, Bisceglio G, Hussey J, West A, Hulihan M, Hardy J, Farrer M
Title
Parkin proven disease: common founders but divergent phenotypes.
Journal title
Neurology
Year
2003
Volume
vol. 60:
Pages
p.1605-1610
Authors
Foncke EMJ, Klein C, Koelman JHTM, Kramer PL, Schilling K, Müller B, Garrels J, de Carvalho Aguiar P, Liu L, de Froe A, Speelman JD, Ozelius LJ, Tijssen MAJ
Title
Hereditary dystonia associated with epilepsy.
Journal title
Neurology
Year
2003
Volume
vol. 60:
Pages
p.1988-1990
Authors
Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL
Title
Frequency of Parkin mutations in late-onset Parkinson’s disease.
Journal title
Ann Neurol
Year
2003
Volume
vol. 54:
Pages
p.415-416
Authors
Wellenbrock C, Hedrich K, Schäfer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C
Title
NR4A2 mutations are rare among European patients with familial Parkinson’s disease.
Journal title
Ann Neurol
Year
2003
Volume
vol. 54:
Pages
p.415
Authors
Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Baker K, Lew M, Singer C, Watts R, Currie LJ, Wooten GF, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Perlmutter J, Racette B, Parsian A, Suchowersky O, Lafontaine AL, Labelle N, Growdon J, Vieregge P, Pramstaller P, Klein C, Stacy M, Gusella JF, Fink SJ, Myers RH, Herbert, A
Title
A haplotype at the PARK3 locus influences onset age for Parkinson disease: The GenePD study.
Journal title
Neurology
Year
2003
Volume
vol. 61:
Pages
p.1557-1561
Authors
Denison SR, Wang F, Becker NA, Schüle B, Kock N, Phillips LA, Klein C, Smith DI
Title
Alterations in the common fragile site gene parkin in ovarian and other cancers.
Journal title
Oncogene
Year
2003
Volume
vol. 22:
Pages
p.8370-8378
Authors
Svetel M, Djarmati A, Dragasevic N, Savic D, Culjkovic B, Romac S, Kostic VS
Title
SCA2 and SCA3 mutations in young-onset dopa-responsive parkinsonism.
Journal title
Eur J Neurol
Year
2003
Volume
vol. 10:
Pages
p.597
Authors
Jöhren O, Brüggemann N, Dendorfer A, Dominiak P
Title
Gonadal steroids differentially regulate the messenger ribonucleic acid expression of pituitary orexin type 1 receptors and adrenal orexin type 2 receptors..
Journal title
Endocrinology
Year
2003
Volume
vol. 144:
Pages
p.1219-1225
Authors
Dahmen N, Kasten M, Wieczorek S, Gencik M, Epplen JT, Ullrich B
Title
Increased frequency of migraine in narcoleptic patients: a confirmatory study.
Journal title
Cephalalgia
Year
2003
Volume
vol. 23:
Pages
p.14-19
Authors
Saunders-Pullman R, Shriberg J, Heiman G, Raymond D, Wendt K, Kramer P, Schilling K, Kurlan R, Klein C, Ozelius LJ, Risch NJ, Bressman SB
Title
Myoclonus dystonia: Possible association with obsessive-compulsive disorder and alcohol dependence.
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.242-245
Authors
Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Mahre JE, Feldman RG, Guttman M, Lew M, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH
Title
Epidemiologic study of 203 sibling pairs with Parkinson's disease: The GenePD study.
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.79-84
Authors
Kann M, Hedrich K, Marder K, Harris J, Meija-Santana H, Vieregge P, Jacobs H, Müller B, Kock N, Bressman SB, Lang AE, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C.
Title
Late-onset Parkinson's disease: What is the role of the parkin gene?
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.835
Authors
Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Goetz C, Vieregge P, Klein C
Title
Mutations in the parkin gene associated with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study.
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.808-810
Authors
Vitaliani R, Scaravilli T, Egarter-Vigl E, Giometto B, Klein C, Scaravilli F, An SF, Pramstaller PP
Title
The pathology of the spinal cord in progressive supranuclear palsy.
Journal title
J Pathol Exp Neurol
Year
2002
Volume
vol. 61:
Pages
p.268-274
Authors
Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss W-D
Title
The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans.
Journal title
Neurosci Lett
Year
2002
Volume
vol. 323:
Pages
p.50-54
Authors
Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ, Klein C
Title
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.
Journal title
Mov Disord
Year
2002
Volume
vol. 17:
Pages
p.424-426
Authors
Kann M, Vieregge P, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Klein C
Title
The role of parkin mutations in 111 community-derived patients with early-onset parkinsonismThe role of parkin mutations in 111 community-derived patients with early-onset parkinsonismThe role of parkin mutations in 111 community-derived patients with ear
Journal title
Ann Neurol
Year
2002
Volume
vol. 51:
Pages
p.621-625
Authors
DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten F, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine A-L, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella JF, Myers RH
Title
PARK3 influences Parkinson's disease onset age: A genome scan in the GenePD Study.
Journal title
Am J Hum Genet
Year
2002
Volume
vol. 50:
Pages
p.1089-1095
Authors
Hedrich K, Marder K, Harris J., Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C
Title
Evaluation of 50 probands with early-onset Parkinson´s disease for parkin mutations.
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.1239-1246
Authors
Kock N, Culjkovic B, Maniak S, Schilling K, Müller B, Zühlke C, Ozelius L, Klein C, Pramstaller PP, Kramer PL.
Title
Mode of inheritance and susceptibility locus for restless legs syndrome on chromosome 12q.
Journal title
Am J Hum Genet
Year
2002
Volume
vol. 71:
Pages
p.205-208
Authors
Kis B, Schrag A, Ben-Shlomo Y, Klein C, Gasperi A, Spoegler F, Schoenhuber R, Pramstaller PP
Title
Prevalence of Parkinson's disease and parkinsonism in South Tyrol.
Journal title
Neurology
Year
2002
Volume
vol. 58:
Pages
p.1820-1825
Authors
Augood SJ, Hollingsworth Z, Albers DS, Yang L, Leung JC, Muller B, Klein C, Breakefield XO, Standaert DG
Title
Dopamine transmission in DYT1 dystonia: A biochemical and autoradiographical study.
Journal title
Neurology
Year
2002
Volume
vol. 59:
Pages
p.445-448
Authors
Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbuzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZW, Zühlke C, Klein C
Title
Role of SCA-2 mutations in early- and late-onset dopa-responsive parkinsonism.
Journal title
Ann Neurol
Year
2002
Volume
vol. 52:
Pages
p.257-258
Authors
Bubel S, Peters V, Klein C, Hackler R, Schaefer JR, Hagenah J, Hoffmann GF, Vieregge P
Title
CDG (congenital disorders of glycosylation) – Zur Differentialdiagnose hereditärer Ataxien im Erwachsenenalter.
Journal title
Nervenarzt
Year
2002
Volume
vol. 73:
Pages
p.754-760
Authors
Pal PK, Leung J, Hedrich K, Samii A, Lieberman A, Nausieda PA, Calne DB, Breakefield XO, Klein C, Stoessl AJ
Title
[18F]-Dopa PET imaging in early stage, non-parkin juvenile parkinsonism.[18F]-Dopa PET imaging in early stage, non-parkin juvenile parkinsonism.[18F]-Dopa PET imaging in early stage, non-parkin juvenile parkinsonism.[18F]-Dopa PET imaging in early stage,
Journal title
Mov Disord
Year
2002
Volume
vol. 17:
Pages
p.789-794
Authors
Doheny D, Danisi F, Smith C, Morrison C, Velickovic M, de Leon D, Bressman SB, Leung J, Ozelius L, Klein C, Breakefield XO, Silverman J, Brin MF
Title
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
Journal title
Neurology
Year
2002
Volume
vol. 59:
Pages
p.1244-1246
Authors
Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, de Carvalho Aguiar P, Schilling K, Kramer P, de Leon D, Raymond D, Saunders-Pullman R, Ozelius LJ, Klein C, Bressman SB, Schmand B, de Koning-Tijssen MAJ, Silverman JM
Title
Phenotypic features of myoclonus-dystonia in three kindreds.
Journal title
Neurology
Year
2002
Volume
vol. 59:
Pages
p.1187-1196
Authors
Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ
Title
Epsilon-Sarcoglycan mutations found in combination with other dystonia gene mutations.
Journal title
Ann Neurol
Year
2002
Volume
vol. 52:
Pages
p.675-679
Authors
Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E
Title
Exon deletions in the GCH1 gene in two of four Turkish families with dopa-responsive dystonia.
Journal title
Neurology
Year
2002
Volume
vol. 59:
Pages
p.1783-1786
Authors
Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke M, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein C
Title
Evidence for paternal expression of the epsilon-sarcoglycan gene explains reduced penetrance in myoclonus-dystonia.
Journal title
Am J Hum Genet
Year
2002
Volume
vol. 71:
Pages
p.1303-1311
Authors
Themann C, Alvarez Fischer D, Groß S, Westermann R, Weihe E, Kuschinsky K, Schäfer MKH, Ferger B
Title
Effect of repeated treatment with high doses of selegiline on behaviour, striatal dopaminergic transmission and tyrosine hydroxylase mRNA levels.
Journal title
Naunyn-Schmiedeberg’s Archives of Pharmacology
Year
2002
Volume
vol. 365:
Pages
p.22-28
Authors
Alvarez Fischer D, Ferger B, Kuschinsky K
Title
Discrimination of morphine- and haloperidol-induced muscular rigidity and akinesia/catalepsy in simple tests in rats.
Journal title
Behav Brain Res
Year
2002
Volume
vol. 134:
Pages
p.317-321
Authors
Dahmen N, Kasten M, Mittag K, Muller MJ
Title
Narcoleptic and schizophrenic hallucinations. Implications for differential diagnosis and pathophysiology.
Journal title
Eur J Health Econ
Year
2002
Volume
vol. 3:
Pages
p.S94-98.
Authors
Dahmen N, Kasten M, Muller MJ, Mittag K
Title
Frequency and dependence on body posture of hallucinations and sleep paralysis in a community sample.
Journal title
J Sleep Res
Year
2002
Volume
vol. 11:
Pages
p.179-180
Authors
Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss W-D, Pramstaller PP
Title
Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.
Journal title
Ann Neurol
Year
2001
Volume
vol. 49:
Pages
p.367-376
Authors
Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E
Title
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of hereditary ataxia.
Journal title
Eur J Hum Genet
Year
2001
Volume
vol. 9:
Pages
p.160-164
Authors
Leung JC-o, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO
Title
Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Journal title
Neurogenetics
Year
2001
Volume
vol. 3:
Pages
p.133-143
Authors
Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C
Title
The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism.
Journal title
Hum Mol Genet
Year
2001
Volume
vol. 16:
Pages
p.1649-1656
Authors
Klein C, Stewart GS, Quinn NP, Taylor MR
Title
Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder.
Journal title
Mov Disord
Year
2001
Volume
vol. 16:
Pages
p.788-789
Authors
DeStefano AL, Golbe LI, Mark M, Lazzarini AM, Maher NE, Saint-Hilaire M, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH
Title
Genome-wide scan for parkinson's disease: The GenePD Study.
Journal title
Neurology
Year
2001
Volume
vol. 57:
Pages
p.1124-1126
Authors
Nitschke MF, Krüger G, Bruhn H, Klein C, Gehrking E, Wessel K, Frahm J, Vieregge P.
Title
Voluntary palatal tremor is associated with hyperactivation of the inferior olive - a fMRI study.
Journal title
Mov Disord
Year
2001
Volume
vol. 16:
Pages
p.1193-1195
Authors
Alvarez Fischer D, Schäfer MKH, Ferger B, Groß S, Westermann R, Weihe E, Kuschinsky K
Title
Sensitization to the behavioural effects of cocaine: alterations in tyrosine hydroxylase or endogenous opioid mRNAs are not necessarily involved.
Journal title
Naunyn-Schmiedeberg’s Archives of Pharmacology
Year
2001
Volume
vol. 363:
Pages
p.288-294
Authors
Dahmen N, Bierbrauer J, Kasten M
Title
Increased prevalence of obesity in narcoleptic patients and relatives.
Journal title
Eur Arch Psychiatry Clin Neurosci
Year
2001
Volume
vol. 251:
Pages
p.85-89
Authors
Dahmen N, Kasten M
Title
REM-associated hallucinations and sleep paralysis are dependent on body posture.
Journal title
J Neurol
Year
2001
Volume
vol. 248:
Pages
p.423-424
Authors
Gencik M, Dahmen N, Wieczorek S, Kasten M, Bierbrauer J, Anghelescu I, Szegedi A, Menezes Saecker AM, Epplen JT
Title
A prepro-orexin gene polymorphism is associated with narcolepsy.
Journal title
Neurology
Year
2001
Volume
vol. 56:
Pages
p.115-117
Authors
Gencik M, Dahmen N, Wieczorek S, Kasten M, Gencikova A, Epplen JT
Title
ApoE polymorphisms in narcolepsy.
Journal title
BMC Med Genet
Year
2001
Volume
vol. 2:
Pages
p.9
Authors
Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Camp SM, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang AE, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Schilling K, Vieregge P, Wahlström J, Breakefield XO, Kramer PL, Ozelius LJ, Sealfon SC
Title
Evaluation of the role of the D2 dopamine receptor in myoclonus-dystonia.
Journal title
Ann Neurol
Year
2000
Volume
vol. 47:
Pages
p.369-373
Authors
Vieregge P, Hagenah J, Heberlein I, Klein C, Ludin H-P
Title
Parkinson's disease in twins.
Journal title
Neurology
Year
2000
Volume
vol. 54:
Pages
p.1710-1711
Authors
Bressman SB, Sabatti C, Raymond D, de Leon D, Klein C, Kramer PL, Brin MF, Fahn S, Breakefield XO, Ozelius LJ, Risch NJ
Title
The DYT1 phenotype and guidelines for diagnostic testing.
Journal title
Neurology
Year
2000
Volume
vol. 54:
Pages
p.1746-1752
Authors
Klein C, Pramstaller PP, Kis B, Page C, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ
Title
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.
Journal title
Ann Neurol
Year
2000
Volume
vol. 48:
Pages
p.65-71
Authors
Klein C, Schumacher K, Jacobs H, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius L, Pramstaller P, Vieregge P, Kramer PL
Title
Association studies of Parkinson’s disease and parkin polymorphisms.
Journal title
Ann Neurol
Year
2000
Volume
vol. 48:
Pages
p.126-127
Authors
Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M, Vieregge P, Wahlström J, Wendt KJ, Kramer PL, Bressman SB, Ozelius LJ
Title
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Journal title
Am J Hum Genet
Year
2000
Volume
vol. 67:
Pages
p.1314-1319
Authors
Kis B, Heberlein I, Hagenah J, Jacobs H, Klein C, Vieregge P
Title
Neuropsychological abnormalities in first degree relatives of patients with familial Parkinson's disease.
Journal title
J Neurol Neurosurg Psychiatry
Year
2000
Volume
vol. 69:
Pages
p.838
Authors
Friedman JRL, Klein C, Woodward H, Leung J, Ozelius LJ, Breakefield XO, Charness ME
Title
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia.
Journal title
Neurology
Year
2000
Volume
vol. 55:
Pages
p.1417-1418
Authors
Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ
Title
Genetic analysis of three patients with an 18p- syndrome and dystonia.
Journal title
Neurology
Year
1999
Volume
vol. 52:
Pages
p.649-651
Authors
Klein C, Brin MF, Kramer P, Sena Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ
Title
Association of a missense change in the D2 dopamine receptor with myoclonus-dystonia.
Journal title
Proc Natl Acad Sci
Year
1999
Volume
vol. 96:
Pages
p.5173-5176
Authors
Hagenah J, Klein C, Sieberer M, Vieregge P
Title
Exogenous levodopa is not toxic to elderly subjects with non-parkinsonian movement disorders: further clinical evidence.
Journal title
J Neural Transm
Year
1999
Volume
vol. 106:
Pages
p.301-307
Authors
Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman S, Dobyns WB, Ozelius LJ, Brashear A
Title
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Journal title
Ann Neurol
Year
1999
Volume
vol. 46:
Pages
p.176-182
Authors
Vieregge P, Hagenah J, Heberlein I, Klein C, Ludin H-P
Title
Parkinson’s disease in twins: a follow-up study.
Journal title
Neurology
Year
1999
Volume
vol. 53:
Pages
p.566-572
Authors
Nygaard TG, Raymond D, Chen C, Nishino I, Greene PE, Jennings D, Heiman GA, Klein C, Saunders-Pullman RJ, Kramer P, Ozelius LJ, Bressman SB
Title
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Journal title
Ann Neurol
Year
1999
Volume
vol. 46:
Pages
p.794-798
Authors
Sieberer MG, Vieregge P, Klein C, Ozelius LJ, Wandinger K-P
Title
Concordant late onset of craniocervical dystonia in a pair of monozygotic twins.
Journal title
Mov Disord
Year
1999
Volume
vol. 14:
Pages
p.1040-1043
Authors
Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, de Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB
Title
Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects.
Journal title
Genet Test
Year
1999
Volume
vol. 3:
Pages
p.323-328
Authors
Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO.
Title
The TOR1A (DYT1) gene family and role in early onset torsion dystonia.
Journal title
Genomics
Year
1999
Volume
vol. 62:
Pages
p.377-384
Authors
Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield XO, Risch N, Ozelius LJ
Title
Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson’s disease from Northern Germany.
Journal title
Ann Hum Genet
Year
1999
Volume
vol. 63:
Pages
p.285-291
Authors
Klein C, Vieregge P
Title
Fahr’s disease - far from a disease.
Journal title
Mov Disord
Year
1998
Volume
vol. 13:
Pages
p.620-621
Authors
Klein C, Gehrking E, Vieregge P
Title
Voluntary palatal tremor in two siblings.
Journal title
Mov Disord
Year
1998
Volume
vol. 13:
Pages
p.545-548
Authors
Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman J, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ
Title
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
Journal title
Hum Mol Genet
Year
1998
Volume
vol. 7:
Pages
p.1133-1136
Authors
Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ
Title
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.
Journal title
Ann Neurol
Year
1998
Volume
vol. 44:
Pages
p.394-398
Authors
Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, Kömpf D, Ozelius L
Title
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus.
Journal title
Genomics
Year
1998
Volume
vol. 54:
Pages
p.176-177
Authors
Klein C, Ozelius L, Hagenah J, Breakefield XO, Risch NJ, Vieregge P
Title
Search for a founder mutation in idiopathic focal dystonia from Northern Germany.
Journal title
Am J Hum Genet
Year
1998
Volume
vol. 63:
Pages
p.1777-1782
Authors
Klein C, Vieregge P, Kömpf D
Title
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea and dystonia.
Journal title
Mov Disord
Year
1997
Volume
vol. 12:
Pages
p.254-255
Authors
Klein C, Brown R, Wenning GK, Quinn NP
Title
The "cold hands sign" in multiple system atrophy.
Journal title
Mov Disord
Year
1997
Volume
vol. 12:
Pages
p.514-518
Authors
Klein C, Pulkowski U, Moser A, Kömpf D, Vieregge P
Title
A study of visual hallucinations in patients with Parkinson´s disease.
Journal title
J Neurol
Year
1997
Volume
vol. 244:
Pages
p.371-377
Authors
Vieregge P, Klein C, Gehrking E, Körtke D, Kömpf D
Title
The diagnosis of "essential palatal tremor".
Journal title
Neurology
Year
1997
Volume
vol. 49:
Pages
p.248-249
Authors
Vieregge P, Klein C, Heinzow B
Title
Zur neurotoxikologischen Bewertung des Multiple Chemical Sensitivity (MCS)-Syndroms: Wie gelangen wir an reliable Ergebnisse?
Journal title
Gesundh-Wes
Year
1997
Volume
vol. 59:
Pages
p.413-414
Authors
Vieregge P, Stolze H, Klein C, Heberlein I
Title
Gait quantitaion in Parkinson´s disease – Locomotor disability and correlation to clinical rating scales.
Journal title
J Neural Transm
Year
1997
Volume
vol. 104:
Pages
p.237-248
Authors
Wszolek ZK, Vieregge P, Uitti RJ, Gasser T, Yasuhara O, McGeer P, Calne DB, Vingerhoets FJG, Klein C, Pfeiffer RF
Title
German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia - longitudinal observations.
Journal title
Parkinsonism and Related Disorders
Year
1997
Volume
vol. 3:
Pages
p.125-139
Authors
Vieregge P, Kaufmann U, Schäfer C, Steinauer K, Fey A, Klein C, Heberlein I, Zurloh A
Title
Gangstörung als reduzierte sozial-praktische Kompetenz im Alter - Quantitative und Videofilm-gestützte Erfassung als Grundlage geriatrischer Rehabilitaion.
Journal title
Geriat Forsch
Year
1996
Volume
vol. 6:
Pages
p.123-140
Authors
Klein C, Wenning GK, Quinn NP, Marsden CD
Title
Ataxia without telangiectasia masquerading as benign hereditary chorea.
Journal title
Mov Disord
Year
1996
Volume
vol. 11:
Pages
p.217-220
Authors
Klein C, Wenning GK, Quinn NP
Title
Pseudotransitorische ischämische Attacke als Erstsymptom bei Multisystematrophie.
Journal title
Nervenarzt
Year
1995
Volume
vol. 2:
Pages
p.133-135
Authors
Steinrücke S, Lohmann K, Domingo A, Rolfs A, Bäumer T, Spiegler J, Hartmann C, Münchau A
Title
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Journal title
Neurol Genet
Year
Volume
vol. 2:
Pages
p.e106
Authors
Klein C, Lohmann K, Marras C, Münchau A. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors
Title
Hereditary Dystonia Overview.
Journal title
GeneReviews®
Year
Volume
vol. :
Pages
p.
Authors
Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C
Title
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
Journal title
JAMA Neurol
Year
Volume
vol. :
Pages
p.Epub ahead of print
Authors
Manzoor H, Bukhari I, Wajid M, Zhang Y, Zhang H, Brüggemann N, Klein C, Shi Q, Naz S
Title
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.
Journal title
J Clin Neurol
Year
Volume
vol. :
Pages
p.Epub ahead of print
Authors
Beste C, Mückschel M, Rosales R, Domingo A, Lee L, Ng A, Klein C, Münchau A
Title
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism.
Journal title
Cereb Cortex
Year
Volume
vol. :
Pages
p.Epub ahead of print
Authors
Tunc S, Brüggemann N, Baaske MK, Hartmann C, Grütz K, Westenberger A, Klein C, Münchau A, Bäumer T
Title
Facial twitches in ADCY5-associated disease - Myokymia or myoclonus? An electromyography study.
Journal title
Parkinsonism Relat Disord
Year
Volume
vol. :
Pages
p.Epub ahead of print
Authors
Prasuhn J, Piskol L, Vollstedt EJ, Graf J, Schmidt A, Tadic V, Tunc S, Hampf J, Warrlich E, Bibergeil C, Hagenah J, Klein C, Kasten M, Brüggemann N
Title
Non-motor symptoms and quality of life in subjects with mild parkinsonian signs.
Journal title
Acta Neurol Scand
Year
Volume
vol. :
Pages
p.Epub ahead of print