The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia

(2011) Cecilia Marelli et al.   ARCHIVES OF NEUROLOGY

Targeted enrichment of genomic DNA regions for next-generation sequencing

(2011) F. Mertes et al.   Briefings in Functional Genomics

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

(2011) NA Schlipf et al.   CLINICAL GENETICS

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

(2011) J Schicks et al.   CLINICAL GENETICS

Update on degenerative ataxias

(2011) Thomas Klockgether   CURRENT OPINION IN NEUROLOGY

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

The case for locus-specific databases

(2011) Mark E. Samuels et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Call for participation in the neurogenetics consortium within the Human Variome Project

(2011) Andrea Haworth et al.   NEUROGENETICS

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

(2011) Karla P. Figueroa et al.   PLoS One

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

(2010) Georgy Bakalkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

(2010) Karl V. Voelkerding et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

(2010) P. Bauer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

(2009) Boukje de Vries et al.   ARCHIVES OF NEUROLOGY

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

(2009) Richard G H Cotton et al.   GENETICS IN MEDICINE

SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

(2009) Mohammed Faruq et al.   HUMAN MUTATION

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

(2009) Karla P. Figueroa et al.   HUMAN MUTATION

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS