Milestones in genetics of cerebellar ataxias

The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice

(2021) Atay Vural et al.   MOVEMENT DISORDERS

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

(2020) Yui Tada et al.   JOURNAL OF HUMAN GENETICS

DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype

(2020) Sharon A. McGrath-Morrow et al.   Scientific Reports

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic

(2020) Petya Bogdanova-Mihaylova et al.   CEREBELLUM

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

(2019) Andrea Cortese et al.   NATURE GENETICS

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

(2019) Aryun Kim et al.   CEREBELLUM

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

(2019) Francesco Nicita et al.   CLINICAL GENETICS

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

(2019) Marie Beaudin et al.   CEREBELLUM

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

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

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

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia

(2019) Sunil Shakya et al.   CLINICAL GENETICS

Polygenic burden in focal and generalized epilepsies

(2019) Costin Leu et al.   BRAIN

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

(2019) Kathie J. Ngo et al.   HUMAN MUTATION

Updated frequency analysis of spinocerebellar ataxia in China

(2018) Zhao Chen 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

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

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

(2018) Ahmed Alfares et al.   GENETICS IN MEDICINE

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

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

The genetic nomenclature of recessive cerebellar ataxias

(2018) Malco Rossi et al.   MOVEMENT DISORDERS

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Tandem repeats mediating genetic plasticity in health and disease

(2018) Anthony J. Hannan   NATURE REVIEWS GENETICS

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

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

Polymorphisms in DNA methylation–related genes are linked to the phenotype of Machado-Joseph disease

(2018) Dongxue Ding et al.   NEUROBIOLOGY OF AGING

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2017) Lorena Travaglini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

(2017) Daniele Galatolo et al.   NEUROGENETICS

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

(2017) Ilaria Giordano et al.   NEUROLOGY

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

(2016) Cecilia Marelli et al.   HUMAN MUTATION

A genome-wide association study in multiple system atrophy

(2016) Anna Sailer et al.   NEUROLOGY

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

(2015) M. J. Keogh et al.   JOURNAL OF NEUROLOGY

New insights into the performance of human whole-exome capture platforms

(2015) J. Meienberg et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration

(2014) C.J.L.M. Smeets et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

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

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

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

(2013) Andrea H. Németh et al.   BRAIN

Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia

(2013) Sarah L. Sawyer et al.   HUMAN MUTATION

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Prevalence of ataxia in children: A systematic review

(2013) K. E. Musselman et al.   NEUROLOGY

Milestones in ataxia

(2011) Thomas Klockgether et al.   MOVEMENT DISORDERS

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

The genetic aetiology of late-onset chronic progressive cerebellar ataxia

(2009) Mark Wardle et al.   JOURNAL OF NEUROLOGY