The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

(2018) Leda Paganini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

OUP accepted manuscript

(2018)   BRAIN

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

(2018) Didem Yücel-Yılmaz et al.   BRAIN & DEVELOPMENT

m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration

(2018) Maria Patron et al.   CELL RESEARCH

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients

(2018) M. Celmina et al.   CLINICAL GENETICS

Vps13D Encodes a Ubiquitin-Binding Protein that Is Required for the Regulation of Mitochondrial Size and Clearance

(2018) Allyson L. Anding et al.   CURRENT BIOLOGY

SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology

(2018) Viraj P. Ichhaporia et al.   Disease Models & Mechanisms

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

(2018) Matthis Synofzik et al.   EUROPEAN JOURNAL OF HUMAN 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

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

(2018) Dominic Lenz et al.   GENETICS IN MEDICINE

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes

(2018) Miao Sun et al.   GENETICS IN MEDICINE

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

(2018) Dale Bryant et al.   HUMAN MOLECULAR GENETICS

Structures of Ubl and Hsp90-like domains of sacsin provide insight into pathological mutations

(2018) Marie Ménade et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

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

A novel SLC9A1 mutation causes cerebellar ataxia

(2018) Kazuhiro Iwama et al.   JOURNAL OF HUMAN GENETICS

A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia

(2018) Tessa van Dijk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

(2018) Janice C. Wong et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

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

Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS

(2018) Visou Ady et al.   JOURNAL OF PHYSIOLOGY-LONDON

The genetic nomenclature of recessive cerebellar ataxias

(2018) Malco Rossi et al.   MOVEMENT DISORDERS

Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations

(2018) Ariel Levy et al.   MOVEMENT DISORDERS

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1 crv4 mouse model of SCAR13 ataxia

(2018) Simone Bossi et al.   NEUROBIOLOGY OF DISEASE

Novel homozygous variants in ATCAY , MCOLN1 , and SACS in complex neurological disorders

(2018) Humera Manzoor et al.   PARKINSONISM & RELATED DISORDERS

Senataxin resolves RNA:DNA hybrids forming at DNA double-strand breaks to prevent translocations

(2018) Sarah Cohen et al.   Nature Communications

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

(2018) Mathilde Renaud et al.   JAMA Neurology

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

(2018) Marie Coutelier et al.   JAMA Neurology

High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia

(2018) Ce Kang et al.   CEREBELLUM

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation

(2018) Adi Shohet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biochemical characterization of the PHARC associated serine hydrolase ABHD12 reveals its preference for very long chain lipids

(2018) Alaumy Joshi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice

(2018) Julia K. Götzl et al.   Molecular Neurodegeneration

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

(2018) Amandine Duchesne et al.   PLoS Genetics

Oligodendrocyte-encoded Kir4.1 function is required for axonal integrity

(2018) Lucas Schirmer et al.   eLife

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

(2018) Yann Nadjar et al.   Orphanet Journal of Rare Diseases

Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations

(2017) Burcu Zeydan et al.   EUROPEAN NEUROLOGY

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

(2017) Emma J. Duncan et al.   HUMAN MOLECULAR GENETICS

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells

(2017) Marijana Aradjanski et al.   HUMAN MOLECULAR 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

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

(2017) Manuel Schiff et al.   JOURNAL OF MEDICAL GENETICS

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

(2017) Nicoline Schiess et al.   JOURNAL OF NEUROGENETICS

A new mutation of carbonic anhydrase 8 gene expanding the cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ) subtype 3

(2017) L. Paternoster et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Slowly progressive d -bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing

(2017) Takashi Matsukawa et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype

(2017) Toru Yamashita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels

(2017) Christopher J. Klein et al.   MAYO CLINIC PROCEEDINGS

Neurological disorders associated with DNA strand-break processing enzymes

(2017) Bingcheng Jiang et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

(2017) Angèle Tingaud-Sequeira et al.   NEUROBIOLOGY OF DISEASE

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

(2017) Monia B. Hammer et al.   Neurodegenerative Diseases

Diseases of connexins expressed in myelinating glia

(2017) Charles K. Abrams   NEUROSCIENCE LETTERS

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease

(2017) Rebecca Barmherzig et al.   PEDIATRIC NEUROLOGY

Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement

(2017) Alaa Eskandrani et al.   PEDIATRIC NEUROLOGY

Mutations in Membrin/ GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

(2017) Roman Praschberger et al.   Cell Reports

The Enigmatic Role of GBA2 in Controlling Locomotor Function

(2017) Marina A. Woeste et al.   Frontiers in Molecular Neuroscience

TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation

(2016) Nilofer Husain et al.   AGING CELL

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

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

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

(2016) Sylvie Gerber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

(2016) Patricia G. Wheeler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study

(2016) Matthis Synofzik et al.   BRAIN

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene

(2016) Sarah Wiethoff et al.   CEREBELLUM

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

(2016) Teisha Y. Bradshaw et al.   HUMAN MOLECULAR GENETICS

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

(2016) Eva Morava et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Mitochondrial Quality Control Proteases in Neuronal Welfare

(2016) Roman M. Levytskyy et al.   Journal of Neuroimmune Pharmacology

Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways

(2016) Emma Perkins et al.   JOURNAL OF PHYSIOLOGY-LONDON

Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity

(2016) Jonathan A. Stefely et al.   MOLECULAR CELL

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

(2016) Nicolas C. Hoch et al.   NATURE

Portuguese family with the co-occurrence of frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation

(2016) Maria R. Almeida et al.   NEUROBIOLOGY OF AGING

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD

(2016) Sylvie Picker-Minh et al.   Orphanet Journal of Rare Diseases

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome

(2016) Amal Al Teneiji et al.   PEDIATRIC NEUROLOGY

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia'

(2016) R Abeti et al.   Cell Death & Disease

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

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

(2016) Ana Bratic et al.   PLoS Genetics

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

(2015) Wolfgang M. Schmidt 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

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

(2015) Makanko Komara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA

(2015) Karine Choquet et al.   BRAIN

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

(2015) Rebekah K. Jobling et al.   BRAIN

Glial expression of Swiss cheese (SWS), theDrosophilaorthologue of neuropathy target esterase (NTE), is required for neuronal ensheathment and function

(2015) Sudeshna Dutta et al.   Disease Models & Mechanisms

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2)

(2015) Claire Guissart et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

(2015) Minh Nguyen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

(2015) Marie Hully et al.   European Journal of Medical Genetics

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway

(2015) Beatriz Garcia-Diaz et al.   HUMAN MOLECULAR GENETICS

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

(2015) Julia Vodopiutz et al.   HUMAN MUTATION

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore

(2015) Santhanam Shanmughapriya et al.   MOLECULAR CELL

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

(2015) Naiara Akizu et al.   NATURE GENETICS

A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I

(2015) David Razafsky et al.   NEUROBIOLOGY OF DISEASE

TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia: Table 1

(2015) Marisela E. Dy et al.   NEUROLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes

(2015) Ya-Wen Lu et al.   Frontiers in Genetics

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

(2015) Rim Rzem et al.   PLoS One

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

(2014) Estelle Colin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

(2014) Anna C. Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome

(2014) Praseetha Kizhakkedath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

(2014) Hiroyuki Morino et al.   BMC Neurology

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

(2014) L. van Berge et al.   BRAIN

Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

(2014) C. Guissart et al.   HUMAN MOLECULAR GENETICS

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2

(2014) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2014) Roxanne Larivière et al.   HUMAN MOLECULAR GENETICS

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

(2014) Cyril Mignot et al.   JOURNAL OF MEDICAL GENETICS

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

(2014) Fernando Gómez-Herreros et al.   NATURE GENETICS

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy

(2014) Mi-Hyun Park et al.   NEUROGENETICS

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

(2014) N. I. Wolf et al.   NEUROLOGY

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome

(2014) R. Burns et al.   NEUROLOGY

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management

(2014) Shuke Nie et al.   Orphanet Journal of Rare Diseases

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks

(2014) N T Martin et al.   Cell Death & Disease

Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations

(2014) Mathilde Renaud et al.   JAMA Neurology

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Mutations inPTRH2cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

(2014) Hao Hu et al.   Annals of Clinical and Translational Neurology

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

(2013) Amir Boukhris et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A NovelGBA2Gene Missense Mutation in Spastic Ataxia

(2013) Christina Votsi et al.   ANNALS OF HUMAN GENETICS

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

(2013) Ghada El Euch-Fayache et al.   BRAIN

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

(2013) Matthis Synofzik et al.   BRAIN

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

(2013) A. Reghan Foley et al.   BRAIN

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

(2013) Jun-ichi Takanashi et al.   BRAIN & DEVELOPMENT

PRRT2mutations and paroxysmal disorders

(2013) A. Méneret et al.   EUROPEAN JOURNAL OF NEUROLOGY

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms

(2013) Joshua A. Regal et al.   HUMAN MOLECULAR GENETICS

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

(2013) Chang-He Shi et al.   HUMAN MOLECULAR GENETICS

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

(2013) Yu Sun et al.   HUMAN MUTATION

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

(2013) G. Eda Utine et al.   JOURNAL OF CHILD NEUROLOGY

KIF1Cmutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

(2013) Talya Dor 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

CHP1-Mediated NHE1 Biosynthetic Maturation Is Required for Purkinje Cell Axon Homeostasis

(2013) Y. Liu et al.   JOURNAL OF NEUROSCIENCE

Type 1 Inositol Trisphosphate Receptor Regulates Cerebellar Circuits by Maintaining the Spine Morphology of Purkinje Cells in Adult Mice

(2013) T. Sugawara et al.   JOURNAL OF NEUROSCIENCE

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused byGOSR2mutation

(2013) Martje E. van Egmond et al.   MOVEMENT DISORDERS

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

(2013) L. B. Hills et al.   NEUROLOGY

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

(2013) Y. Izumi et al.   NEUROLOGY

Vitamin E is essential for Purkinje neuron integrity

(2013) L. Ulatowski et al.   NEUROSCIENCE

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

(2013) David H. Margolin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

(2013) Yuting Shi et al.   PLoS One

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

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

(2012) Bassam R Ali et al.   BMC Medical Genetics

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

(2012) M. Grapp et al.   BRAIN

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits

(2012) Pia Irene Anna Rossi et al.   CEREBRAL CORTEX

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

(2012) Onur Emre Onat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients

(2012) Laura Gort et al.   GENE

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

(2012) Eva R. Almajan et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel mutations consolidateKCTD7as a progressive myoclonus epilepsy gene

(2012) Maria Kousi et al.   JOURNAL OF MEDICAL GENETICS

Concepts and hypothesis: integrin cytoplasmic domain-associated protein-1 (ICAP-1) as a potential player in cerebral cavernous malformation

(2012) Yiming Zheng et al.   JOURNAL OF NEUROLOGY

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

(2012) Tobias Eisenberger et al.   Orphanet Journal of Rare Diseases

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

(2012) Stefano Lise et al.   PLoS Genetics

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

(2011) Geneviève Bernard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

(2011) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

(2011) Martine Tétreault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

(2011) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

(2011) Namik Kaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

(2011) S. Gulsuner et al.   GENOME RESEARCH

ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies

(2011) Teodora Chamova et al.   JOURNAL OF NEUROLOGY

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

D-Serine regulates cerebellar LTD and motor coordination through the δ2 glutamate receptor

(2011) Wataru Kakegawa et al.   NATURE NEUROSCIENCE

Cayman Ataxia-Related Protein is a Presynapse-Specific Caspase-3 Substrate

(2011) Masanori Itoh et al.   NEUROCHEMICAL RESEARCH

Role of polynucleotide kinase/phosphatase in mitochondrial DNA repair

(2011) Nasser Tahbaz et al.   NUCLEIC ACIDS RESEARCH

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

(2011) Caroline Sevin et al.   Orphanet Journal of Rare Diseases

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

(2010) Torunn Fiskerstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

(2010) Andrew H. Crosby et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

(2010) Sascha Vermeer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PEX10 are a cause of autosomal recessive ataxia

(2010) Luc Régal et al.   ANNALS OF NEUROLOGY

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

(2010) Marjan E. Steenweg et al.   HUMAN MUTATION

Synaptic Acidification Enhances GABAA Signaling

(2010) C. J. Dietrich et al.   JOURNAL OF NEUROSCIENCE

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome

(2009) S.-C. Lai et al.   EUROPEAN JOURNAL OF NEUROLOGY

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

(2009) Detlef Bockenhauer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

(2009) U. I. Scholl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reduction in memory in passive avoidance learning, exploratory behaviour and synaptic plasticity in mice with a spontaneous deletion in the ubiquitin C-terminal hydrolase L1 gene

(2008) Mikako Sakurai et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Prolonged α-Tocopherol Deficiency Decreases Oxidative Stress and Unmasks α-Tocopherol-dependent Regulation of Mitochondrial Function in the Brain

(2008) Sarah L. Cuddihy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Paraneoplastic syndromes of the CNS

(2008) Josep Dalmau et al.   LANCET NEUROLOGY

Alpha-mannosidosis

(2008) Dag Malm et al.   Orphanet Journal of Rare Diseases