Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Diversity of ARSACS Mutations in French-Canadians

(2014) I. Thiffault et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

(2013) Kristoffer Haugarvoll et al.   Orphanet Journal of Rare Diseases

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

(2012) Angela Pyle et al.   ARCHIVES OF NEUROLOGY

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

(2012) A. Sailer et al.   NEUROLOGY

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

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

New findings in the ataxia of Charlevoix–Saguenay

(2011) José Gazulla et al.   JOURNAL OF NEUROLOGY

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

(2010) Charalampos Tzoulis et al.   BRAIN

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

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

(2008) Sascha Vermeer et al.   NEUROGENETICS

Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature

(2008) M. Anheim et al.   REVUE NEUROLOGIQUE

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

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