Roxanne Larivière

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 243 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

A Frameshift Deletion in Peripherin Gene Associated with Amyotrophic Lateral Sclerosis

François Gros‐Louis, Roxanne Larivière, Genevíève Gowing et al. · Journal of Biological Chemistry · 2004 · 199 citations · Full text

Life Sciences, Genetics, Neurology +15

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

Martine Girard, Roxanne Larivière, David A. Parfitt et al. · Proceedings of the National Academy of Sciences · 2012 · 192 citations

Life Sciences, Genetics, Neurology +17

Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS

François Gros‐Louis, Geneviève Soucy, Roxanne Larivière et al. · Journal of Neurochemistry · 2010 · 183 citations

Life Sciences, Neurology, Neuroscience +17

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

Roxanne Larivière, Rébecca Gaudet, Benoît J. Gentil et al. · Human Molecular Genetics · 2014 · 101 citations · Full text

Life Sciences, Neurology, Neuroscience +17