Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations

(2014) M. Cordoba et al.   NEUROLOGY

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations

(2014) C. Depondt et al.   NEUROLOGY

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

(2014) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

Trehalose Improves Human Fibroblast Deficits in a New CHIP-Mutation Related Ataxia

(2014) Maria Jose Casarejos et al.   PLoS One

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

(2013) C. Bettencourt et al.   CLINICAL GENETICS

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

(2013) Chang-He Shi et al.   HUMAN MOLECULAR GENETICS

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

(2013) Yuting Shi et al.   PLoS One

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

(2012) Joshua Hersheson et al.   HUMAN MUTATION