New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder

(2015) Lubov Blumkin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes: Table 1

(2014) Patrick Yu-Wai-Man et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Diversity of ARSACS Mutations in French-Canadians

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

Loss of the m-AAA protease subunit AFG3L2 causes mitochondrial transport defects and tau hyperphosphorylation

(2014) A. K. Kondadi et al.   EMBO JOURNAL

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2014) Roxanne Larivière et al.   HUMAN MOLECULAR GENETICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

Sacsin-Related Spastic Ataxia Caused by a Novel Missense Mutation p.Arg272His in a Patient from Sicily, Southern Italy

(2013) Valeria Dibilio et al.   CEREBELLUM

Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay

(2013) Antoine Duquette et al.   MOVEMENT DISORDERS

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

(2013) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene

(2013) Fanny Morice-Picard et al.   Pigment Cell & Melanoma Research

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

(2012) Christelle Tesson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

(2012) E. Prodi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Comparative Analysis and Functional Mapping ofSACSMutations Reveal Novel Insights into Sacsin Repeated Architecture

(2012) Alessandro Romano et al.   HUMAN MUTATION

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF 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

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

(2011) Cyril Goizet et al.   HUMAN MUTATION

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2011) Guennadi Kozlov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

(2010) D. H’mida-Ben Brahim et al.   JOURNAL OF NEUROLOGY

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

(2010) J. Baets et al.   NEUROLOGY

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

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada

(2009) D.L. Guernsey et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family

(2008) Yosr Bouhlal et al.   JOURNAL OF NEUROGENETICS

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

(2008) Sascha Vermeer et al.   NEUROGENETICS

A Decreased Mitochondrial DNA Content Is Related to Insulin Resistance in Adolescents

(2008) Tomas F. Gianotti et al.   Obesity

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

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