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

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

(2017) Matthis Synofzik et al.   MOVEMENT DISORDERS

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

(2017) Zafar Iqbal et al.   PLoS One

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

(2016) Matthis Synofzik et al.   BRAIN

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

(2016) Bart P van de Warrenburg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical sequencing: is WGS the better WES?

(2016) Janine Meienberg et al.   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

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

(2016) Martial Mallaret et al.   JOURNAL OF NEUROLOGY

Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients

(2016) M Hadjivassiliou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Advances in Sequencing Technologies for Understanding Hereditary Ataxias

(2016) Alessandro Didonna et al.   JAMA Neurology

How Will the “$1,000 Dollar Genome” Meet Reality (and Centers for Medicare & Medicaid Services)?

(2015) Carl Morrison et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

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

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

(2015) S. Klebe et al.   REVUE NEUROLOGIQUE

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing

(2014) Yuan Xue et al.   GENETICS IN MEDICINE

Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing

(2014) Anke Hensiek et al.   JOURNAL OF NEUROLOGY

Technology: The $1,000 genome

(2014) Erika Check Hayden   NATURE

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

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

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

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

(2013) Chihiro Ohba et al.   NEUROGENETICS

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY