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

Diversity of ARSACS Mutations in French-Canadians

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

Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

(2013) K.K. Oguz et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

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

(2013) Antoine Duquette et al.   MOVEMENT DISORDERS

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

(2012) Elena Garcia-Martin et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

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

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

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

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

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease

(2011) Benoit J. Gentil et al.   FASEB JOURNAL

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

The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

(2011) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Levels of phosphorylated axonal neurofilament subunit H (pNfH) are increased in acute ischemic stroke

(2011) P. Singh et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The Myosin Va Head Domain Binds to the Neurofilament-L Rod and Modulates Endoplasmic Reticulum (ER) Content and Distribution within Axons

(2011) Mala V. Rao et al.   PLoS One

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Synphilin-1 attenuates neuronal degeneration in the A53T  -synuclein transgenic mouse model

(2010) W. W. Smith et al.   HUMAN MOLECULAR GENETICS

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

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

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

(2010) J. Baets et al.   NEUROLOGY

Neuronal intermediate filaments and neurodegenerative disorders

(2009) Rodolphe Perrot et al.   BRAIN RESEARCH BULLETIN

Bergmann Glial S100B Activates Myo-inositol Monophosphatase 1 and Co-localizes to Purkinje Cell Vacuoles in SCA1 Transgenic Mice

(2009) Parminder J. S. Vig et al.   CEREBELLUM

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

Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains

(2009) Elan D. Louis et al.   MOVEMENT DISORDERS

The Phosphorylated Axonal Form of the Neurofilament Subunit NF-H (pNF-H) as a Blood Biomarker of Traumatic Brain Injury

(2008) Kevin J. Anderson et al.   JOURNAL OF NEUROTRAUMA

Review of the Multiple Aspects of Neurofilament Functions, and their Possible Contribution to Neurodegeneration

(2008) Rodolphe Perrot et al.   MOLECULAR NEUROBIOLOGY