New findings in the ataxia of Charlevoix–Saguenay

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2011) E. M. Vingolo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

(2010) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

(2010) Laura Anesi et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

(2010) Stephanie Schorge et al.   TRENDS IN NEUROSCIENCES

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Sequence of the SACS Gene

(2009) Sascha Vermeer et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes

(2009) Sarah H. Ying et al.   JOURNAL OF NEUROLOGY

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

(2008) Alessandra Terracciano et al.   NEUROGENETICS

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS

Novel SACS mutation in a Belgian family with sacsin-related ataxia

(2007) Y. Ouyang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES