A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

(2013) Solaf M Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations inKCND3cause spinocerebellar ataxia type 22

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

A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation within a SPTBN2 Spectrin Repeat

(2012) Ellen Cho et al.   CEREBELLUM

Case of Infantile Onset Spinocerebellar Ataxia Type 5

(2012) Francois-Dominique Jacob et al.   JOURNAL OF CHILD NEUROLOGY

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

(2012) Stefano Lise et al.   PLoS Genetics

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS