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Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

Movement disorders, 2014-08, Vol.29 (9), p.1108-1116

2014

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Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3009-3015

2022

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Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

Brain (London, England : 1878), 2014-08, Vol.137 (Pt 8), p.2178-2192

2014

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The phenotypic spectrum of DYT24 due to ANO3 mutations

Movement disorders, 2014-06, Vol.29 (7), p.928-934

2014

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Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

American journal of human genetics, 2012-12, Vol.91 (6), p.1041-1050

2012

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Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

Human molecular genetics, 2014-09, Vol.23 (17), p.4621-4638

2014

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A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

JAMA neurology, 2013-06, Vol.70 (6), p.727

2013

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Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

Journal of neurology, neurosurgery and psychiatry, 2016-05, Vol.87 (5), p.512-519

2016

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Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations

Movement disorders, 2014-07, Vol.29 (8), p.1060-1064

2014

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Screening for VPS35 mutations in Parkinson's disease

Neurobiology of aging, 2012-04, Vol.33 (4), p.838.e1-838.e5

2012

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Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

Neuroscience letters, 2012-06, Vol.518 (1), p.19-22

2012

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ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia

Neurology, 2014-03, Vol.82 (12), p.1065

2014

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Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

Movement disorders, 2012-12, Vol.27 (14), p.1829-1830

2012

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Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation

Movement disorders clinical practice (Hoboken, N.J.), 2017-01, Vol.4 (1), p.132-135

2017

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Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

Movement disorders clinical practice (Hoboken, N.J.), 2014-04, Vol.1 (1), p.3-13

2014

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Primary progressive multiple sclerosis developing in the context of young onset Parkinson’s disease

Multiple sclerosis, 2013-01, Vol.19 (1), p.123-125

2013

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Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

Movement disorders, 2012-12, Vol.27 (14), p.1827-1829

2012

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Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Journal of neurology, 2013-02, Vol.260 (2), p.656-660

2013

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Tau acts as an independent genetic risk factor in pathologically proven PD

Neurobiology of aging, 2012-04, Vol.33 (4), p.838.e7-838.e11

2012

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Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

Human molecular genetics, 2014-09, Vol.23 (17), p.4621-4638

2014

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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

The Lancet (British edition), 2011-02, Vol.377 (9766), p.641-649

2011

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Neurobiology of aging, 2017-09, Vol.57, p.247.e9-247.e13

2017

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Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Neurobiology of aging, 2018-04, Vol.64, p.159.e5-159.e8

2018

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Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience

Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes

The phenotypic spectrum of DYT24 due to ANO3 mutations

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations

Screening for VPS35 mutations in Parkinson's disease

Lack of Evidence for a Role of Genetic Variation in TMEM230 in the Risk for Parkinson’s disease in the Caucasian Population

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

Exome Sequencing Identifies a Novel Homozygous Missense ATP13A2 Mutation

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician

Primary progressive multiple sclerosis developing in the context of young onset Parkinson’s disease

Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family

Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation

Tau acts as an independent genetic risk factor in pathologically proven PD

Characterisation and validation of insertions and deletions in 173 patient exomes

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

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