Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

(2016) Eleanna Kara 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

A founder mutation p.H701P identified as a major cause of SPG7 in Norway

(2016) S. L. Rydning et al.   EUROPEAN JOURNAL OF NEUROLOGY

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

(2016) Vincenzo Lupo et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2015) Julie Pilliod et al.   ANNALS OF NEUROLOGY

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

(2015) Sylvie Langlois et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

(2015) Emil Ylikallio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

(2015) Kym Boycott et al.   JOURNAL OF MEDICAL GENETICS

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

(2015) Sarah Morgan et al.   NEUROBIOLOGY OF AGING

Effective Variant Detection by Targeted Deep Sequencing of DNA Pools: An Example from Parkinson's Disease

(2014) Lasse Pihlstrøm et al.   ANNALS OF HUMAN GENETICS

Exome sequencing in undiagnosed inherited and sporadic ataxias

(2014) Angela Pyle et al.   BRAIN

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

(2014) Temistocle Lo Giudice et al.   EXPERIMENTAL NEUROLOGY

Clinical Interpretation and Implications of Whole-Genome Sequencing

(2014) Frederick E. Dewey et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2014) Anke Hensiek et al.   JOURNAL OF NEUROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

(2014) Iselin Marie Wedding et al.   PLoS One

Hereditary Spastic Paraplegia: Clinical Principles and Genetic Advances

(2014) John Fink   SEMINARS IN NEUROLOGY

Genetic Cerebellar Ataxias

(2014) Elsdon Storey   SEMINARS IN NEUROLOGY

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

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

(2013) Kishore R. Kumar et al.   JOURNAL OF NEUROLOGY

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

(2013) Chihiro Ohba et al.   NEUROGENETICS

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

(2013) C. Alexander Valencia et al.   PLoS One

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

(2011) Y. Erlich et al.   GENOME RESEARCH

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

(2009) T. Gasser et al.   EUROPEAN JOURNAL OF NEUROLOGY

Diagnosis and treatment of Friedreich ataxia: a European perspective

(2009) Jörg B. Schulz et al.   Nature Reviews Neurology

A clinical, genetic, and biochemical characterization ofSPG7mutations in a large cohort of patients with hereditary spastic paraplegia

(2008) Alessia Arnoldi et al.   HUMAN MUTATION

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION