
Publications
Title
Parkin Interacts with Apoptosis-Inducing Factor and Interferes with Its Translocation to the Nucleus in Neuronal Cells.
Journal title
Int J Mol Sci
Year
2019
Volume
vol. 20:
Pages
p.
Title
Disentangling the genetics of lean mass.
Journal title
Am J Clin Nutr
Year
2019
Volume
vol. 109:
Pages
p.276-287
Title
Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Journal title
Parkinsonism Relat Disord
Year
2019
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Biallelic MYORG mutations: Primary familial brain calcification goes recessive.
Journal title
Mov Disord
Year
2019
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Progress of pharmacological approaches in Parkinson's disease.
Journal title
Clin Pharmacol Ther
Year
2019
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
The supplementary motor area modulates interhemispheric interactions during movement preparation.
Journal title
Hum Brain Mapp
Year
2019
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Journal title
Nat Genet
Year
2019
Volume
vol. 51:
Pages
p.245-257
Title
Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection.
Journal title
J Am Coll Cardiol
Year
2019
Volume
vol. 73:
Pages
p.58-66
Title
Utility and implications of exome sequencing in early-onset Parkinson's disease.
Journal title
Mov Disord
Year
2019
Volume
vol. 34:
Pages
p.133-137
Title
Single-Cell Sequencing of iPSC-Dopamine Neurons Reconstructs Disease Progression and Identifies HDAC4 as a Regulator of Parkinson Cell Phenotypes.
Journal title
Cell Stem Cell
Year
2019
Volume
vol. 24:
Pages
p.93-106
Title
A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia.
Journal title
J Neurol Sci
Year
2019
Volume
vol. 396:
Pages
p.199-201
Title
Sez6l2-antibody-associated progressive cerebellar ataxia: a differential diagnosis of atypical parkinsonism.
Journal title
J Neurol.
Year
2019
Volume
vol. 266:
Pages
p.522-524
Title
Dopamine oxidation mediates a time-dependent pathological cascade in Parkinson's disease.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.250
Title
MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson's Disease.
Journal title
J Parkinsons Dis.
Year
2018
Volume
vol. 8:
Pages
p.25-30
Title
Movement Disorders in Treatable Inborn Errors of Metabolism.
Journal title
Mov Disord
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.
Journal title
JAMA Neurol
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
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
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson's disease.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Transient Generalized Chorea in Influenza A Encephalopathy.
Journal title
Tremor Other Hyperkinet Mov
Year
2018
Volume
vol. 8:
Pages
p.591
Title
PINK1-dependent mitophagy is driven by the UPS and can occur independently of LC3 conversion.
Journal title
Cell Death Differ
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1857-1870
Title
Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
HSP90-incorporating chaperome networks as biosensor for disease-related pathways in patient-specific midbrain dopamine neurons.
Journal title
Nat Commun
Year
2018
Volume
vol. 9:
Pages
p.4345
Title
Predictors of alcohol responsiveness in dystonia.
Journal title
Year
2018
Volume
vol. 91:
Pages
p.e2020-e2026
Title
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
Journal title
Stem Cell Res
Year
2018
Volume
vol. 33:
Pages
p.60-64
Title
The hSNM1B/Apollo variant rs11552449 is associated with cellular sensitivity towards mitomycin C and ionizing radiation.
Journal title
DNA Repair
Year
2018
Volume
vol. 72:
Pages
p.93-98
Title
USP14 inhibition corrects an in vivo model of impaired mitophagy.
Journal title
EMBO Mol Med
Year
2018
Volume
vol. 10:
Pages
p.e9014
Title
Disease-causing or benign? challenges in genetic variant interpretation and limitations of ClinVar.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1271
Title
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism.
Journal title
Brain
Year
2018
Volume
vol. 141:
Pages
p.2995-3008
Title
Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells.
Journal title
Brain
Year
2018
Volume
vol. 141:
Pages
p.3052-3064
Title
An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism.
Journal title
Mov Disord
Year
2018
Volume
vol. 13:
Pages
p.1095
Title
Taking genomics research to the next level: The Genotype-Tissue expression project.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1097
Title
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1108-1118
Title
Mylohyoid hemispasm in a patient with hypoglossal nerve stimulation.
Journal title
Clin Case Rep
Year
2018
Volume
vol. 6:
Pages
p.1657-1658
Title
Increased substantia nigra echogenicity in LRRK2 family members without mutations.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1504-1505
Title
Evidence for a potential role of miR-1908-5p and miR-3614-5p in autoimmune disease risk using integrative bioinformatics.
Journal title
J Autoimmun
Year
2018
Volume
vol. 94:
Pages
p.83-89
Title
Parkin and PINK1 mitigate STING-induced inflammation.
Journal title
Nature
Year
2018
Volume
vol. 561:
Pages
p.258-262
Title
Field synopsis and systematic meta-analyses of genetic association studies in isolated dystonia.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. 57:
Pages
p.50-57
Title
Associative plasticity in supplementary motor area - motor cortex pathways in Tourette syndrome.
Journal title
Sci Rep
Year
2018
Volume
vol. 8:
Pages
p.11984
Title
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Journal title
Hum Mutat
Year
2018
Volume
vol. 39:
Pages
p.1901-1915
Title
Differentiation of human iPSCs into VSMCs and generation of VSMC-derived calcifying vascular cells.
Journal title
Stem Cell Res
Year
2018
Volume
vol. 31:
Pages
p.62-70
Title
Striatal Microstructure and Its Relevance for Cognitive Control.
Journal title
Trends Cogn Sci
Year
2018
Volume
vol. 22:
Pages
p.747-751
Title
Altered perception-action binding modulates inhibitory control in Gilles de la Tourette syndrome.
Journal title
J Child Psychol Psychiatry
Year
2018
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
Journal title
J Hum Genet
Year
2018
Volume
vol. 63:
Pages
p.997-1001
Title
ER Lipid Defects in Neuropeptidergic Neurons Impair Sleep Patterns in Parkinson's Disease.
Journal title
Neuron
Year
2018
Volume
vol. 98:
Pages
p.1155-1169
Title
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
Journal title
Nat Commun
Year
2018
Volume
vol. 9:
Pages
p.2098
Title
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.
Journal title
Neuropediatrics
Year
2018
Volume
vol. 49:
Pages
p.246-255
Title
Personality profiles are different in musician's dystonia and other isolated focal dystonias.
Journal title
Psychiatry Res
Year
2018
Volume
vol. 266:
Pages
p.26-29
Title
How Do I Confirm that a New Mutation is Pathogenic?
Journal title
Mov Disord Clin Pract
Year
2018
Volume
vol. 5:
Pages
p.229
Title
3D Cultures of Parkinson's Disease-Specific Dopaminergic Neurons for High Content Phenotyping and Drug Testing.
Journal title
Adv Sci (Weinh)
Year
2018
Volume
vol. 6:
Pages
p.1800927
Title
Neuroimaging abnormalities in individuals exhibiting Parkinson's disease risk markers.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1412-1422
Title
The genetic nomenclature of recessive cerebellar ataxias.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1056-1076
Title
High prevalence of olfactory dysfunction in cervical dystonia.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. 53:
Pages
p.33-36
Title
Mfn2 ubiquitination by PINK1/parkin gates the p97-dependent release of ER from mitochondria to drive mitophagy.
Journal title
Elife
Year
2018
Volume
vol. 7:
Pages
p.e32866
Title
Clustering of motor and nonmotor traits in leucine-rich repeat kinase 2 G2019S Parkinson's disease nonparkinsonian relatives: A multicenter family study.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.960-965
Title
A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. 54:
Pages
p.116-118
Title
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
Journal title
Ann Neurol
Year
2018
Volume
vol. 83:
Pages
p.1075-1088
Title
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.
Journal title
Neurol Genet
Year
2018
Volume
vol. 4:
Pages
p.e227
Title
Age- and sex-related heterogeneity in prodromal Parkinson's disease.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.1025-1027
Title
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.
Journal title
Cerebellum
Year
2018
Volume
vol. 17:
Pages
p.504-506
Title
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Journal title
Cell
Year
2018
Volume
vol. 172:
Pages
p.897-909
Title
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.
Journal title
Neuropediatrics
Year
2018
Volume
vol. 49:
Pages
p.296-297
Title
Adherent vs. Free-Floating Neural Induction by Dual SMAD Inhibition for Neurosphere Cultures Derived from Human Induced Pluripotent Stem Cells.
Journal title
Front Cell Dev Biol
Year
2018
Volume
vol. :
Pages
p.10.3389/fcell.2018.00003
Title
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Journal title
Parkinsonism Relat Disord
Year
2018
Volume
vol. 51:
Pages
p.91-95
Title
Single Heterozygous ATP13A2 Mutations Cause Cellular Dysfunction Associated with Parkinson's Disease.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.852-854
Title
Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions.
Journal title
Brain Imaging Behav
Year
2018
Volume
vol. 12:
Pages
p.1569-1582
Title
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.
Journal title
J Clin Neurosci
Year
2018
Volume
vol. 50:
Pages
p.131-132
Title
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.482-488
Title
Massive weight loss following deep brain stimulation of the nucleus accumbens in a depressed woman.
Journal title
Neurocase
Year
2018
Volume
vol. 24:
Pages
p.49-53
Title
Genome-Edited, TH-expressing Neuroblastoma Cells as a Disease Model for Dopamine-Related Disorders: A Proof-of-Concept Study on DJ-1-deficient Parkinsonism.
Journal title
Front Cell Neurosci
Year
2018
Volume
vol. 11:
Pages
p.426
Title
Pearls & Oy-sters: Family history of Huntington disease disguised a case of dentatorubral-pallidoluysian atrophy.
Journal title
Neurology
Year
2018
Volume
vol. 90:
Pages
p.142-143
Title
Genetics of Parkinson disease.
Journal title
Handb Clin Neurol
Year
2018
Volume
vol. 147:
Pages
p.211-227
Title
Spatio-temporal dynamics of cortical drive to human subthalamic nucleus neurons in Parkinson's disease.
Journal title
Neurobiol Dis
Year
2018
Volume
vol. 112:
Pages
p.49-62
Title
Tics and Tourette syndrome - surplus of actions rather than disorder?
Journal title
Mov Disord
Year
2018
Volume
vol. 33:
Pages
p.238-242
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
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
Title
Nonmotor Signs in Genetic Forms of Parkinson's Disease.
Journal title
Int Rev Neurobiol
Year
2017
Volume
vol. 133:
Pages
p.129-178
Title
Update on the Genetics of Dystonia.
Journal title
Curr Neurol Neurosci Rep
Year
2017
Volume
vol. 17:
Pages
p.26
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
Title
Imitation inhibition in children with Tourette syndrome.
Journal title
J Neuropsychol
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
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
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.
Title
Author response: Munchausen syndrome by genetics: Next-generation challenges for clinicians.
Journal title
Neurology
Year
2017
Volume
vol. 89:
Pages
p.307
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
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
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
Title
Association between lipoprotein(a) level and type 2 diabetes: no evidence for a causal role of lipoprotein(a) and insulin.
Journal title
Acta Diabetol
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Journal title
Lancet Diabetes Endocrinol
Year
2017
Volume
vol. 5:
Pages
p.97-105
Title
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.
Journal title
J Neural Transm
Year
2017
Volume
vol. 124:
Pages
p.417-430
Title
Caffeine, creatine, GRIN2A and Parkinson's disease progression.
Journal title
J Neurol Sci
Year
2017
Volume
vol. 375:
Pages
p.355-359
Title
Screening study of TUBB4A in isolated dystonia.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. 41:
Pages
p.118-120
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
Title
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.
Journal title
Lancet Neuro
Year
2017
Volume
vol. 16:
Pages
p.701-711
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.
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
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
Title
Clinical manifestations of the anti-IgLON5 disease.
Journal title
Neurology
Year
2017
Volume
vol. 88:
Pages
p.1736-1743
Title
Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
Journal title
Nat Commun
Year
2017
Volume
vol. [Epub ahead of print]:
Pages
p.
Title
Human subthalamic nucleus - Automatic auditory change detection as a basis for action selection.
Journal title
Neuroscience
Year
2017
Volume
vol. 355:
Pages
p.141-148
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
Title
A Novel APTX Variant and Ataxia with Oculomotor Apraxia Type 1.
Journal title
J Clin Neurol
Year
2017
Volume
vol. 13:
Pages
p.303-305
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
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
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.
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. 264:
Pages
p.1076-1084
Title
Psychiatric associations of adult-onset focal dystonia phenotypes.
Journal title
J Neurol Neurosurg Psychiatry
Year
2017
Volume
vol. 88:
Pages
p.595-602
Title
Alcohol improves cerebellar-learning deficit in myoclonus-dystonia - a clinical and electrophysiological investigation.
Journal title
Ann Neurol
Year
2017
Volume
vol. 82:
Pages
p.543-553
Title
Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.
Journal title
J Neurol
Year
2017
Volume
vol. 264:
Pages
p.1520-1522
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. 26:
Pages
p.2412-2425
Title
CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
Journal title
J Neurol
Year
2017
Volume
vol. 264:
Pages
p.1008-1010
Title
[On the fast track to diagnosis : Recommendations for patients without a diagnosis].
Journal title
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
Year
2017
Volume
vol. 60:
Pages
p.517-522
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. 32:
Pages
p.527
Title
GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
Analysis of blood-based gene expression in idiopathic Parkinson disease.
Journal title
Neurology
Year
2017
Volume
vol. 89:
Pages
p.1676-1683
Title
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia.
Journal title
Mov Disord
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Journal title
Genes (Basel)
Year
2017
Volume
vol. 8:
Pages
p.pii: E276
Title
Treatable inherited rare movement disorders.
Journal title
Mov Disord
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons against mitochondrial stress.
Journal title
Nat Commun
Year
2017
Volume
vol. 9:
Pages
p.1399
Title
Perceived and real tic suppression ability and its relation to impulsivity.
Journal title
Mov Disord
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
Aging and a genetic KIBRA polymorphism interactively affect feedback- and observation-based probabilistic classification learning.
Journal title
Neurobiol Aging
Year
2017
Volume
vol. 61:
Pages
p.36-43
Title
Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity.
Journal title
Nat Commun
Year
2017
Volume
vol. 8:
Pages
p.910
Title
White Matter Microstructure of the Human Mirror Neuron System is Related to Symptom Severity in Adults with Autism.
Journal title
J Autism Dev Disord
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
Quantitative Sensory Testing in adults with Autism Spectrum Disorders.
Journal title
J Autism Dev Disord
Year
2017
Volume
vol. 47:
Pages
p.1183-1192
Title
Acylated and unacylated ghrelin confer neuroprotection to mesencephalic neurons.
Journal title
Neuroscience
Year
2017
Volume
vol. :
Pages
p.[Epub ahead of print]
Title
Increased insula-putamen connectivity in X-linked dystonia-parkinsonism.
Journal title
Neuroimage Clin
Year
2017
Volume
vol. 17:
Pages
p.835-846
Title
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
Journal title
Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
Year
2017
Volume
vol. 82:
Pages
p.543-553
Title
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.
Journal title
J Hum Genet
Year
2017
Volume
vol. 62:
Pages
p.1005-1006
Title
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.
Journal title
Hum Mol Genet
Year
2017
Volume
vol. 26:
Pages
p.2975-2983
Title
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Journal title
J Mol Neurosci
Year
2017
Volume
vol. 62:
Pages
p.11-16
Title
A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. 37:
Pages
p.120-122
Title
Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.
Journal title
Parkinsonism Relat Disord
Year
2017
Volume
vol. 37:
Pages
p.43-49
Title
Mitochondrial DNA depletion in respiratory chain-deficient Parkinson disease neurons.
Journal title
Ann Neurol
Year
2016
Volume
vol. 79:
Pages
p.366-378
Title
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Structural imaging in the presymptomatic stage of genetically determined parkinsonism.
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Neurobiol Dis
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Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS).
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2010
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Title
Botulinum toxin B as an effective and safe treatment for neuroleptic-induced sialorrhea.
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Psychopharmacol
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Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
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Neurobiol Disease
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Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit.
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Neurology
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Responsiveness to distracting stimuli, though increased in Parkinson’s disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers.
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Rapid-onset dystonia-parkinsonism: case report.
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J Neurol
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Somatosensory function in asymptomatic parkin mutation carriers.
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Clinical spectrum of Kufor Rakeb Syndrome in the Chilean kindered with ATP13A2 mutations.
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Myopathy causing camptocormia in idiopathic Parkinson’s disease: a multidisciplinary approach.
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Clinical and demographic characteristics of PINK1 mutation carriers – A meta-analysis.
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Life-long increase of substantia nigra hyperechogenicity.
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2010
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Title
Eye movement disorders are different in Parkin-linked and idiopathic early-onset Parkinson’s disease.
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Neurology
Year
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Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson’s disease.
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Pallidal and thalamic deep brain stimulation in myoclonus-dystonia.
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Title
Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.
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2010
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Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.
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Arch Neurol
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Gaucher disease ascertained through a Parkinson’s center: Imaging and clinical characterization.
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Impaired sense of smell and color discrimination in mongenic and idiopathic Parkinson disease.
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Title
Validity of the MoCA and MMSE in the detection of MCI and dementia in Parkinson disease.
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2010
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Distinct basal ganglia hyperechogenicity in idiopathic basal ganglia calcification.
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Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17.
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2010
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Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study.
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Digitized spiral analysis is a promising early motor marker for Parkinson disease.
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Clinical, neuroimaging and electrophysiological assessment of three DYT6 dystonia families.
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The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).
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Variation in the uric acid transporter gene SLC2A9 wand its association with AAO of Parkinson’s disease.
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Anemia or low hemoglobin levels preceding Parkinson disease: a case-control study.
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Non-motor symptoms in parkin gene-related parkinsonism.
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Title
A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
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2010
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vol. 78:
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Title
Murine features of neurogenesis in the human hippocampus across the lifespan from 0 to 100 years.
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Cranial pachymeningitis: a rare neurological syndrome with heterogeneous etiology.
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J Neurol Neurosurg Psychiatry
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vol. 81:
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Reliability and validity of two self-administered questionnaires for screening restless legs syndrome in population-based studies.
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Sleep Med
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2010
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vol. 11:
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Don't hold your breath: anoxic convulsions from coupled hyperventilation-underwater breath-holding.
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2010
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vol. 192:
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Title
Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: novel clinical and genetic findings.
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2010
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vol. 20:
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Reduced facial nerve hyperexcitability from contralateral cerebral stroke in hemifacial spasm.
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2010
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vol. 25:
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Title
A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
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2010
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vol. 41:
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Title
Nonmotor symptoms in genetic Parkinson disease.
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2010
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Clinical characterization of Dopa-responsive Dystonia in two brothers with homozygous GCH1 mutations and effects of pre-natal levodopa therapy.
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2010
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vol. 41:
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MDR1 variants and risk of Parkinson disease: Association with pesticide exposure?
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J Neurol
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2009
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Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease.
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J Neurol Neurosurg Psychiatry
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Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson’s disease.
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Genetic association study of the P-type ATPase ATP13A2 in late onset Parkinson disease.
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2009
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vol. 24:
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Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype.
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Neurology
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2009
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vol. 72:
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Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers.
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The D216 variant in the DYT1 gene – a susceptibility factor for dystonia in familial cases.
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2009
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Title
Etiology of musician’s dystonia: familial or environmental?
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Neurology
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2009
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Title
Motor complications in patients from the German Competence Network on Parkinson’s disease and the DRD3 Ser9Gly polymorphism.
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Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson’s disease.
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2009
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Primary focal dystonia: evidence for distinct neuropsychiatric and personality profiles.
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J Neurol Neurosurg Psychiatry
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New challenges for informed consent through whole-genome array testing.
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Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology.
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Mapping preclinical compensation in Parkinson’s disease: am imaging genomics approach.
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Genome-wide assocation study reveals genetic risk underlying Parkinson’s disease.
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Time dependent reduction of striatal hypertrophy in Parkin mutation carriers. A longitudinal VBM study.
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Histological findings on fetal striatal grafts in a Huntington's disease patient early after transplantation.
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Neuroscience
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2009
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Modulation of androgen and estrogen receptor expression by antiepileptic drugs and steroids in hippocampus of patients with temporal lobe epilepsy.
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Epilepsia
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2009
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Protection of Midbrain Dopaminergic Neurons by the End-Product of Purine Metabolism Uric Acid: Potentiation by Low-Level Depolarization.
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J Neurochem
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2009
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Brain infiltration of CD4 lymphocytes contributes to neurodegeneration in Parkinson’s disease mode.
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Transient changes on brain magnetic resonance imaging in a patient with sturge-weber syndrome presenting with hemiparesis.
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Year
2009
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Neurological picture. "Malignant" ischaemic stroke of an entire cerebral hemisphere.
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J Neurol Neurosurg Psychiatry
Year
2009
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vol. 80:
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Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
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Lancet Neurol
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2009
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Title
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson’s disease.
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Neurology
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2008
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vol. 70:
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Title
Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci?
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Neurology
Year
2008
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vol. 70:
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Title
Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.
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Neurology
Year
2008
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vol. 70:
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Title
The DRD TaqIA polymorphism and demand of dopaminergic medication in Parkinson’s disease.
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Mov Disord
Year
2008
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vol. 23:
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Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
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2008
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Myoclonus-dystonia: Significance of large SGCE deletions.
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Hum Mutat
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2008
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vol. 29:
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A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.
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Lancet Neurol
Year
2008
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Title
Replication of association between ELAVL4 and Parkinson disease: the GenePD study.
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Hum Genet
Year
2008
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vol. 124:
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Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers.
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Biol Psych
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2008
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vol. 64:
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Pure akinesia as initial presentation of PSP: a clinicopathological study.
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Year
2008
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vol. 14:
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Myoclonus-dystonia due to maternal uniparental disomy.
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Arch Neurol
Year
2008
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vol. 65:
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Title
Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease.
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Neurology
Year
2008
Volume
vol. 71:
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Title
Haplotypes and gene expression implicate the MAPT region for
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Neurology
Year
2008
Volume
vol. 71:
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Title
Childhood-onset restless legs syndrome: Clinical and genetic features of 22 families.
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Mov Disord
Year
2008
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vol. 23:
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Title
Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism.
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Neurology
Year
2008
Volume
vol. 70:
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Title
Transcranial sonography findings in a large family with homo- and heterozygous PINK1 mutations.
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J Neurol Neurosurg Psychiatry
Year
2008
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vol. 79:
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Title
Huntington CAG repeat size does not modify onset age in familial Parkinson’s disease: The Gene PD Study.
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Mov Disord
Year
2008
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vol. 23:
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Title
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.
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Lancet Neurol
Year
2008
Volume
vol. 7:
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Title
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson’s disease: the GenePD study.
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BMC Medicine
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2008
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vol. 6:
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Premotor Gray Matter Volume is Associated with Clinical Findings in Idiopathic and Genetically Determined Parkinson's Disease.
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Open Neuroimag J
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2008
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Title
Skin reactions after intramuscular injection of Botulinum toxin A: A rare side effect.
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J Neurol Neurosurg Psychiatry
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2008
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vol. 79:
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Title
Modelling Parkinson-like neurodegeneration via osmotic minipump delivery of MPTP and probenecid.
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J Neurochem
Year
2008
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vol. 107:
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Divalent metal transporter 1 (DMT1) contributes to neurodegeneration in animal models of Parkinson’s disease.
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PNAS
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2008
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vol. 105:
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Deficiency of Aph1B/C g-Secretase disturbs Nrg1 cleavage and sensorimotor gating which can be reversed with antipsychotic treatment.
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PNAS
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2008
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vol. 105:
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Characterization of the striatal 6-OHDA model of Parkinson’s disease in wild type and α-synuclein-deleted mice.
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Exp Neurol
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A family-based association study of the restless legs syndrome loci 2 and 3 in a European population.
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Mov Disord
Year
2007
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vol. 22:
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The phenotypic spectrum of rapid-onset dystonia parkinsonism (RDP) and mutations in the ATP1A3 gene.
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Brain
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2007
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vol. 130:
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Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis.
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Neurogenetics
Year
2007
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vol. 8:
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Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
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Neurology
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2007
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vol. 68:
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Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany).
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Mov Disord
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vol. 22:
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Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations.
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J Neurol Neurosurg Psychiatry
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Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.
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Mov Disord
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2007
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Deciphering the role of heterozygous mutations in genes associated with parkinsonism.
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Lancet Neurol
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2007
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Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
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Neurology
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2007
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vol. 68:
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Title
Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia.
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Neurology
Year
2007
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vol. 69:
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Title
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17).
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Neurology
Year
2007
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vol. 69:
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Title
Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers – a TMS study.
Journal title
Neurology
Year
2007
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vol. 69:
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Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.
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Mov Disord
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2007
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vol. 22:
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Title
Alpha-Synuclein and Parkinson’s disease susceptibility.
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Neurology
Year
2007
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vol. 69:
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Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles.
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J Neurol
Year
2007
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vol. 254:
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Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson disease.
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Eur J Hum Genet
Year
2007
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Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
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Mov Disord
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2007
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vol. 22:
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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.
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NeuroImage
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2007
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The pRb/E2F cell-cycle pathway mediates cell death in Parkinson’s disease.
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2007
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Role of Activity-Dependent Mechanisms in the Control of Dopaminergic Neuron Survival.
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J Neurochem
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Delayed-onset dystonia due to perinatal asphyxia: a prospective study.
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Mov Disord
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2007
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MECP2 mutations in Serbian Rett syndrome patients.
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Acta Neurol Scand
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2007
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Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.
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Mov Disord
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2007
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Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
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J Neurol Neurosurg Psychiatry
Year
2006
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LRRK2 G2019S as a cause of Parkinson’s disease in Ashkenazi Jews.
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Frequency analysis and clinical characterization of different types of spinocerebellar ataxia in Serbian patients.
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Mov Disord
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vol. 21:
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Co-occurrence of restless legs syndrome and Parkin mutations in two families.
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2006
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Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
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Neurology
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2006
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vol. 66:
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Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson’s disease patients.
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Mov Disord
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2006
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Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.
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Neurology
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Clinical spectrum of homo-and heterozygous PINK1 mutations in a large German family with Parkinson’s disease: Role of a single hit?
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Arch Neurol
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Heterozygosity for Parkin mutation influences onset age in familial Parkinson’s disease: The GenePD Study.
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Arch Neurol
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2006
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Functional MRI reveals activation of a subcortical network in a 5-year old girl with genetically confirmed myoclonus-dystonia.
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Neuropediatrics
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2006
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Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography.
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Neurology
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vol. 66:
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Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate.
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Dominantly transmitted focal dystonia in families of patients with musician’s cramp.
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Neurology
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Blink amplitude but not saccade hypometria indicates carriers of Parkin mutations .
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J Neurol
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2006
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vol. 253:
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Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia.
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Neurology
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Restless legs syndrome: epidemiological and clinico-genetic study in a South Tyrolean population isolate.
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Epidemiologic study of 203 sibling pairs with Parkinson's disease: The GenePD study.
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Mutations in the parkin gene associated with hemiparkinsonism-hemiatrophy: A clinical-genetic and PET study.
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The pathology of the spinal cord in progressive supranuclear palsy.
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Evaluation of 50 probands with early-onset Parkinson´s disease for parkin mutations.
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Dopamine transmission in DYT1 dystonia: A biochemical and autoradiographical study.
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