Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

(2021) Jean-Marie Ravel et al.   JOURNAL OF NEUROLOGY

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1-disease

(2021) Andreas Traschütz et al.   NEUROLOGY

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

(2021) Lara M. Lange et al.   MOVEMENT DISORDERS

Mutations in the VPS16 Gene in 56 Early‐Onset Dystonia Patients

(2021) Xin‐yao Li et al.   MOVEMENT DISORDERS

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

(2021) Elisabetta Indelicato et al.   Frontiers in Neurology

Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

(2021) Stefanie Smolders et al.   Acta Neuropathologica Communications

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

(2021) Carolina Courage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Recurrent EIF2AK2 Missense Variant Causes Autosomal‐Dominant Isolated Dystonia

(2021) Thomas Musacchio et al.   ANNALS OF NEUROLOGY

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

(2021) Manuela Wiessner et al.   BRAIN

Genotype–Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

(2021) Christina Wittke et al.   MOVEMENT DISORDERS

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early‐Onset Generalized Dystonia

(2021) Miriama Ostrozovicova et al.   MOVEMENT DISORDERS

Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy

(2021) Song Xiaozhen et al.   Frontiers in Cell and Developmental Biology

A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature

(2021) Qian Li et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review

(2021) Alexander Balck et al.   MOVEMENT DISORDERS

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

(2021) Rebecca Herzog et al.   Annals of Clinical and Translational Neurology

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

(2020) Andrea Cortese et al.   BRAIN

A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13

(2020) Samantha K Dziurdzik et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing in early-onset Parkinson’s disease among ethnic Chinese

(2020) Nannan Li et al.   NEUROBIOLOGY OF AGING

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

(2020) Eric D. Gaier et al.   OPHTHALMIC GENETICS

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation

(2020) Xi Wang et al.   Frontiers in Genetics

Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype

(2020) Mehrdad A. Estiar et al.   Molecular Genetics & Genomic Medicine

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation

(2020) Kenji Shimizu et al.   Molecular Genetics & Genomic Medicine

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

(2020) Kohei Hamanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

(2020) Dongxue Mao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

(2020) Lucia V. Schottlaender et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

(2020) Marianthi Breza et al.   BRAIN

Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

(2020) Hai-Lin Dong et al.   BRAIN

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

(2020) Lynette G. Sadleir et al.   EPILEPSIA

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

(2020) Shan Tang et al.   EPILEPSIA

De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay

(2020) Shuying Cai et al.   JOURNAL OF HUMAN GENETICS

Neuroimaging evaluation and successful treatment by using directional deep brain stimulation and levodopa in a patient with GNAO1-associated movement disorder: A case report

(2020) Yuri Yamashita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The GRIA3 c. 2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

(2020) Juliette Piard et al.   MOVEMENT DISORDERS

IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus

(2020) Lisa Prilop et al.   PARKINSONISM & RELATED DISORDERS

Increased diagnostic yield in complex dystonia through exome sequencing

(2020) Thomas Wirth et al.   PARKINSONISM & RELATED DISORDERS

A novel de novo RNF216 mutation associated with autosomal recessive Huntington‐like disorder

(2020) Ke‐Liang Chen et al.   Annals of Clinical and Translational Neurology

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

(2020) Ralf A. Husain et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schimke XLID syndrome results from a deletion in BCAP31

(2020) Raymond J. Louie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

(2020) Yuwen Zhao et al.   BRAIN

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

(2020) Noriko Togashi et al.   BRAIN & DEVELOPMENT

Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation

(2020) Yury Seliverstov et al.   CEREBELLUM

NUS1 mutation in a family with epilepsy, cerebellar ataxia, and tremor

(2020) Kunihiko Araki et al.   EPILEPSY RESEARCH

Genetic diagnosis and clinical characteristics by etiological classification in early-onset epileptic encephalopathy with burst suppression pattern

(2020) Sangbo Lee et al.   EPILEPSY RESEARCH

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

(2020) Lucia Laugwitz et al.   European Journal of Medical Genetics

Phenotypic spectrum of short-chain enoyl-Coa HYDRATASE-1 (ECHS1) deficiency

(2020) Silvia Masnada et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

(2020) Thomas Roux et al.   GENETICS IN MEDICINE

De novo mutation and skewed X‐inactivation in girl with BCAP31 ‐related syndrome

(2020) Hsiao‐Jung Kao et al.   HUMAN MUTATION

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

(2020) L Marti‐Sanchez et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease

(2020) Imane Smaili et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation

(2020) Giovanna De Michele et al.   PARKINSONISM & RELATED DISORDERS

Genetic characterization of Parkinson's disease patients in Ecuador and Colombia

(2020) Philip W. Tipton et al.   PARKINSONISM & RELATED DISORDERS

KCTD17-related myoclonus-dystonia syndrome: Clinical and electrophysiological findings of a patient with atypical late onset

(2020) Massimiliano Todisco et al.   PARKINSONISM & RELATED DISORDERS

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

(2020) Dora Steel et al.   ANNALS OF NEUROLOGY

Expanding the clinical and genetic spectrum of PCYT2-related disorders

(2020) Valentina Vélez-Santamaría et al.   BRAIN

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

(2020) Steven A. Gunzler et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

(2020) Thomas Bourinaris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of rare variants of autosomal‐dominant genes in a Chinese population with sporadic Parkinson’s disease

(2020) Ran Zheng et al.   Molecular Genetics & Genomic Medicine

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

(2020) Demy J. S. Kuipers et al.   ANNALS OF NEUROLOGY

Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: Towards a continuum between parkinsonism and hereditary spastic paraplegia

(2020) Marcelo Miranda et al.   PARKINSONISM & RELATED DISORDERS

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

(2020) Prabhjyot Saini et al.   NEUROBIOLOGY OF AGING

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

(2019) Anna Marcé-Grau et al.   PARKINSONISM & RELATED DISORDERS

Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations

(2019) Carlos Zúñiga-Ramírez et al.   PARKINSONISM & RELATED DISORDERS

A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course

(2019) Daojun Hong et al.   Annals of Clinical and Translational Neurology

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

(2019) Tim Ott et al.   Frontiers in Physiology

Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

(2019) Edoardo Monfrini et al.   PARKINSONISM & RELATED DISORDERS

Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?

(2019) Matej Skorvanek et al.   PARKINSONISM & RELATED DISORDERS

Tau Aggregation and Seeding Analyses of Two Novel MAPT Variants Found in Patients with Motor Neuron Disease and Progressive Parkinsonism

(2019) Sachiko Nakayama et al.   NEUROBIOLOGY OF AGING

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

(2019) Andrea Cortese et al.   NATURE GENETICS

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing

(2019) Chin-Hsien Lin et al.   MOVEMENT DISORDERS

Novel SCN2A mutation in a family associated with juvenile-onset myoclonus

(2019) Qi Huang et al.   MEDICINE

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

(2019) Rebecca D. Ganetzky et al.   HUMAN MUTATION

Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

(2019) Kun Li et al.   European Journal of Medical Genetics

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region

(2019) McKenna Kelly et al.   EPILEPSIA

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

(2019) Mohammad Ali Farazi Fard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

(2019) Julien Denis et al.   EPILEPSIA

Variants in DOCK3 cause developmental delay and hypotonia

(2019) Kimberly Wiltrout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel MECR Mutation in Childhood-Onset Dystonia, Optic Atrophy, and Basal Ganglia Signal Abnormalities

(2019) Orhan Gorukmez et al.   NEUROPEDIATRICS

Ataxia and dysarthria due to an ABCA2 variant: Extension of the phenotypic spectrum

(2019) Faiza Aslam et al.   PARKINSONISM & RELATED DISORDERS

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

(2019) Giovanna De Michele et al.   PARKINSONISM & RELATED DISORDERS

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic variants in MT‐ATP6 : A UK‐based Mitochondrial Disease Cohort Study

(2019) Yi Shiau Ng et al.   ANNALS OF NEUROLOGY

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia

(2019) Xiang Lin et al.   BRAIN

BCAP31-related syndrome: The first de novo report

(2019) Berardo Rinaldi et al.   European Journal of Medical Genetics

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

(2019) Elizabeth Jennions et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

(2019) Jaya Punetha et al.   Annals of Clinical and Translational Neurology

Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia

(2019) Qiao Wei et al.   Translational Neurodegeneration

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

(2019) Marta Gatti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review

(2019) Marta De Rinaldis et al.   BRAIN & DEVELOPMENT

Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel

(2019) Elif Acar Arslan et al.   BRAIN & DEVELOPMENT

The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families

(2019) M Lieto et al.   EUROPEAN JOURNAL OF NEUROLOGY

Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

(2019) Haitian Nan et al.   INTERNAL MEDICINE

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

(2019) Haitian Nan et al.   JOURNAL OF HUMAN GENETICS

Clinical spectrum of AIFM1 ‐associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness

(2019) Petya Bogdanova‐Mihaylova et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

The genetic architecture of Parkinson's disease

(2019) Cornelis Blauwendraat et al.   LANCET NEUROLOGY

Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy

(2019) Veena Vedartham et al.   OPHTHALMIC GENETICS

Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia

(2019) Kuan-Lin Lai et al.   PARKINSONISM & RELATED DISORDERS

Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

(2019) Malin Kvarnung et al.   Frontiers in Genetics

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

(2019) Kouhei Den et al.   BMC Neurology

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

(2019) Frédéric M Vaz et al.   BRAIN

The expanding spectrum of movement disorders in genetic epilepsies

(2019) Apostolos Papandreou et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Whole exome sequencing identifies a novel variant in an apoptosis-inducing factor gene associated with X-linked recessive hearing loss in a Chinese family

(2019) Qi Wang et al.   GENETICS AND MOLECULAR BIOLOGY

Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia

(2019) Shen Gu et al.   HUMAN MUTATION

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders

(2019) Parneet Kaur et al.   JOURNAL OF HUMAN GENETICS

A novel IRF2BPL truncating variant is associated with endolysosomal storage

(2019) Monia Ginevrino et al.   MOLECULAR BIOLOGY REPORTS

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

(2019) Sterre Veen et al.   MOVEMENT DISORDERS

IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures

(2019) Christos Ganos et al.   PARKINSONISM & RELATED DISORDERS

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

(2019) Matias Wagner et al.   Nature Communications

LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature

(2019) Yanyan Zhang et al.   Frontiers in Neuroscience

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

(2019) Fulya Akçimen et al.   Frontiers in Genetics

Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification

(2019) Zhidong Cen et al.   BRAIN

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

(2019) Toshitaka Kawarai et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders

(2019) Jie Ni et al.   PARKINSONISM & RELATED DISORDERS

VPS13D ‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia

(2019) Kishin Koh et al.   Molecular Genetics & Genomic Medicine

Recessive mutations in >VPS13D cause childhood onset movement disorders

(2018) Julie Gauthier et al.   ANNALS OF NEUROLOGY

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects

(2018) Eunju Seong et al.   ANNALS OF NEUROLOGY

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

(2018) Yujiro Higuchi et al.   BRAIN

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

(2018) Jean Chemin et al.   BRAIN

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

(2018) Marc Corral-Juan et al.   BRAIN

OUP accepted manuscript

(2018)   BRAIN

CACNA1A -related early-onset encephalopathy with myoclonic epilepsy: A case report

(2018) Takuya Hayashida et al.   BRAIN & DEVELOPMENT

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

(2018) Vincenzo A. Gennarino et al.   CELL

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease

(2018) B. Schormair et al.   CLINICAL GENETICS

Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

(2018) Stéphanie Valence et al.   GENETICS IN MEDICINE

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy

(2018) Antonella Sferra et al.   HUMAN MOLECULAR GENETICS

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

(2018) Jacy L. Wagnon et al.   HUMAN MUTATION

A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia

(2018) Monica Juneja et al.   JOURNAL OF GENE MEDICINE

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

(2018) Malavika Hebbar et al.   JOURNAL OF HUMAN GENETICS

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

(2018) Aneek Das Bhowmik et al.   JOURNAL OF HUMAN GENETICS

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

(2018) Hiroshi Doi et al.   JOURNAL OF HUMAN GENETICS

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia

(2018) Hiroyuki Fukuda et al.   JOURNAL OF HUMAN GENETICS

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

(2018) Emer O’Connor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

(2018) Lance H. Rodan et al.   MOLECULAR GENETICS AND METABOLISM

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

The genetic nomenclature of recessive cerebellar ataxias

(2018) Malco Rossi et al.   MOVEMENT DISORDERS

Proline-rich transmembrane protein 2- negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

(2018) Wo-Tu Tian et al.   MOVEMENT DISORDERS

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

A new MAPT deletion in a case of speech apraxia leading to corticobasal syndrome

(2018) Giulia Mazzon et al.   NEUROCASE

BiallelicSQSTM1mutations in early-onset, variably progressive neurodegeneration

(2018) Valentina Muto et al.   NEUROLOGY

Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification

(2018) Xiang-Ping Yao et al.   NEURON

Familial tauopathy with P364S MAPT mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions

(2018) P. Štrafela et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders

(2018) Kuo-Hsuan Chang et al.   PARKINSONISM & RELATED DISORDERS

Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome

(2018) Ichiro Yabe et al.   Scientific Reports

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

(2018) Solveig Montaut et al.   JAMA Neurology

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

(2018) Shereen G. Ghosh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

(2018) Anastasiya Aleksandrovna Kozina et al.   BMC Medical Genetics

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis

(2018) Danielle Veenma et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia

(2018) Silvia Testi et al.   JOURNAL OF ALZHEIMERS DISEASE

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

(2018) A. Papandreou et al.   JOURNAL OF INHERITED METABOLIC DISEASE

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype

(2018) Burcu Atasu et al.   MOVEMENT DISORDERS

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

The genetic landscape of Parkinson's disease

(2018) A. Lunati et al.   REVUE NEUROLOGIQUE

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

(2018) Katharina Danhauser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification

(2018) Yalda Forouhideh et al.   BRAIN

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene

(2018) Magdalena Krygier et al.   CLINICAL GENETICS

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain

(2018) Y. Peng et al.   CLINICAL GENETICS

First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome

(2018) Korbinian Maria Riedhammer et al.   MOVEMENT DISORDERS

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene

(2018) Marta Leńska-Mieciek et al.   MOVEMENT DISORDERS

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism

(2018) Hossein Darvish et al.   MOVEMENT DISORDERS

Systematically analyzing rare variants of autosomal-dominant genes for sporadic Parkinson's disease in a Chinese cohort

(2018) Nannan Yang et al.   NEUROBIOLOGY OF AGING

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

(2018) David Genis et al.   NEUROLOGY

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

(2018) Tommaso Schirinzi et al.   PARKINSONISM & RELATED DISORDERS

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

(2018) Federica Graziola et al.   PARKINSONISM & RELATED DISORDERS

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

(2018) Maria G. Otero et al.   Annals of Clinical and Translational Neurology

MYORG is associated with recessive primary familial brain calcification

(2018) David Arkadir et al.   Annals of Clinical and Translational Neurology

Expanding the genetic heterogeneity of intellectual disability

(2017) Shams Anazi et al.   HUMAN GENETICS

Novel UCHL1 mutations reveal new insights into ubiquitin processing

(2017) Siri L. Rydning et al.   HUMAN MOLECULAR GENETICS

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

(2017) Alessia Nasca et al.   HUMAN MUTATION

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4

(2017) Nicoline Schiess et al.   JOURNAL OF NEUROGENETICS

Establishing diagnostic criteria for Perry syndrome

(2017) Takayasu Mishima et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea

(2017) G Carré et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

(2017) Michael Zech et al.   NEUROGENETICS

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

(2017) Gillian Rice et al.   NEUROPEDIATRICS

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

(2017) Stefanie Nicole Hayer et al.   Orphanet Journal of Rare Diseases

A novel mutation of CHCHD2 p.R8H in a sporadic case of Parkinson's disease

(2017) Aya Ikeda et al.   PARKINSONISM & RELATED DISORDERS

DCTN1 -related neurodegeneration: Perry syndrome and beyond

(2017) Takuya Konno et al.   PARKINSONISM & RELATED DISORDERS

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood

(2017) Edibe Pembegul Yildiz et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14

(2017) Chloe Stutterd et al.   Annals of Clinical and Translational Neurology

Haploinsufficiency of KMT2B , Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

(2016) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

(2016) Gali Heimer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

(2016) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

(2016) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

(2016) Laura S. Kremer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

(2016) Christine P. Diggle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

(2016) Ziv Gan-Or et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

(2016) Dong-Hui Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A recurrent mutation inKCNA2as a novel cause of hereditary spastic paraplegia and ataxia

(2016) Katherine L. Helbig et al.   ANNALS OF NEUROLOGY

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

(2016) Takehiko Inui et al.   BRAIN & DEVELOPMENT

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema

(2016) C. Tzoulis et al.   CEREBELLUM

A homozygousFITM2mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

(2016) Celia Zazo Seco et al.   Disease Models & Mechanisms

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

(2016) Gabrielle Rudolf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

(2016) Cecilia Marelli et al.   HUMAN MUTATION

Rabs, Membrane Dynamics, and Parkinson's Disease

(2016) Bor Luen Tang   JOURNAL OF CELLULAR PHYSIOLOGY

COA7(C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

(2016) Anabel Martinez Lyons et al.   JOURNAL OF MEDICAL GENETICS

ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention

(2016) Abhimanyu Mahajan et al.   JOURNAL OF NEUROLOGY

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature

(2016) Carlo Wilke et al.   JOURNAL OF NEUROLOGY

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency

(2016) Simone Olgiati et al.   MOVEMENT DISORDERS

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

(2016) Connie Marras et al.   MOVEMENT DISORDERS

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

(2016) Esther Meyer et al.   NATURE GENETICS

CHCHD2 gene mutations in familial and sporadic Parkinson's disease

(2016) Chang-he Shi et al.   NEUROBIOLOGY OF AGING

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

(2016) Mark A. Corbett et al.   NEUROLOGY

A nonsense mutation inCHCHD2in a patient with Parkinson disease

(2016) Eva Koschmidder et al.   NEUROLOGY

Delineation of the movement disorders associated withFOXG1mutations: Table 1

(2016) Apostolos Papandreou et al.   NEUROLOGY

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

(2016) Karin Tuschl et al.   Nature Communications

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia

(2016) Xiaodong Cai et al.   Scientific Reports

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

(2016) Yubin Wang et al.   Cell Reports

Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability

(2016) Wayne W.K. Lam et al.   Molecular Genetics & Genomic Medicine

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

(2015) Marie Coutelier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

(2015) Niccolo E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

(2015) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

(2015) Johannes Finnsson et al.   ANNALS OF NEUROLOGY

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

(2015) Alexander Lossos et al.   BRAIN

ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

(2015) Emanuele Panza et al.   BRAIN

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

(2015) Marie Coutelier et al.   BRAIN

The hyperkinetic movement disorder ofFOXG1-related epileptic-dyskinetic encephalopathy

(2015) Elena Cellini et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations

(2015) Ja Hye Kim et al.   Hormone Research in Paediatrics

CHCHD2 and Parkinson's disease

(2015) Iris E Jansen et al.   LANCET NEUROLOGY

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

De novoKCNMA1mutations in children with early-onset paroxysmal dyskinesia and developmental delay

(2015) Zhong-Bin Zhang et al.   MOVEMENT DISORDERS

A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration

(2015) Reo Azuma et al.   MOVEMENT DISORDERS

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

(2015) Andrea Legati et al.   NATURE GENETICS

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Familial striatal degeneration: New mutation and neuroimaging clues

(2015) Orlando Graziani Povoas Barsottini et al.   NEUROLOGY

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

(2015) P. Santens et al.   NEUROLOGY

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

(2015) Hiroyuki Morino et al.   Molecular Brain

A Novel Mutation inELOVL4Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

(2015) Kokoro Ozaki et al.   JAMA Neurology

Mutation inCPT1CAssociated With Pure Autosomal Dominant Spastic Paraplegia

(2015) Carlo Rinaldi et al.   JAMA Neurology

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

(2014) Alain Verloes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia

(2014) Ho Tsoi et al.   JOURNAL OF MEDICAL GENETICS

Costeff syndrome: clinical features and natural history

(2014) Gilad Yahalom et al.   JOURNAL OF NEUROLOGY

A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation

(2014) YI QIAN et al.   Molecular Medicine Reports

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

(2014) Liliana Catherine Patiño et al.   PLoS One

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Expanding the Clinical Phenotype Associated WithELOVL4Mutation

(2014) Maxime Cadieux-Dion et al.   JAMA Neurology

NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder

(2013) Petra Liskova et al.   ACTA OPHTHALMOLOGICA

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

(2013) Pierre Cacciagli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

(2013) Kaya Bilguvar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Novel OPA3 Mutation Revealed by Exome Sequencing

(2013) Beenish Arif et al.   JAMA Neurology

New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

(2013) Carmen Serrano-Munuera et al.   JAMA Neurology

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

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Phosphodiesterases in neurodegenerative disorders

(2012) Eva Bollen et al.   IUBMB LIFE

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

(2012) C. Marras et al.   NEUROLOGY

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS

(2012) Kotaro Ogaki et al.   PARKINSONISM & RELATED DISORDERS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

(2011) Vladimir S. Kostić et al.   JOURNAL OF NEUROLOGY

The curious case of phenocopies in families with genetic Parkinson's disease

(2011) Christine Klein et al.   MOVEMENT DISORDERS

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

(2010) A. S. Al-Din et al.   ACTA NEUROLOGICA SCANDINAVICA

Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene

(2010) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

(2010) Maria I. Behrens et al.   MOVEMENT DISORDERS

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation

(2009) P. Paesold-Burda et al.   HUMAN MOLECULAR GENETICS

DCTN1 mutations in Perry syndrome

(2009) Matthew J Farrer et al.   NATURE GENETICS

Costeff optic atrophy syndrome: New clinical case and novel molecular findings

(2008) G. Ho et al.   JOURNAL OF INHERITED METABOLIC DISEASE