Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging

(2012) Matthis Synofzik et al.   CEREBELLUM

A Novel SACS Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2012) Satoko Miyatake et al.   INTERNAL MEDICINE

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New findings in the ataxia of Charlevoix–Saguenay

(2011) José Gazulla et al.   JOURNAL OF NEUROLOGY

Is the ataxia of Charlevoix–Saguenay a developmental disease?

(2011) José Gazulla et al.   MEDICAL HYPOTHESES

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Characteristic MRI and funduscopic findings help diagnose ARSACS outside Quebec

(2010) M. Gerwig et al.   NEUROLOGY

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

(2010) J. Baets et al.   NEUROLOGY

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

(2008) Sharon E. Plon et al.   HUMAN MUTATION

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

(2008) Sascha Vermeer et al.   NEUROGENETICS