Fanny Mochel

Early Energy Deficit in Huntington Disease: Identification of a Plasma Biomarker Traceable during Disease Progression

Fanny Mochel, Perrine Charles, F. Seguin et al. · PLoS ONE · 2007 · 231 citations · Full text

Neurophysiological Biomarkers, Neurochemical Biomarkers, Metabolic Syndrome +19

Cognitive and neuroimaging features and brain β-amyloidosis in individuals at risk of Alzheimer's disease (INSIGHT-preAD): a longitudinal observational study

Bruno Dubois, Stéphane Epelbaum, Francis Nyasse et al. · The Lancet Neurology · 2018 · 229 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Health Sciences +12

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Fanny Mochel, Melanie A. Knight, Wing‐Hang Tong et al. · The American Journal of Human Genetics · 2008 · 212 citations · Full text

Protein Folding, Medicine, Natural Sciences +5

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

Christelle Tesson, Magdalena Nawara, Mustafa A. Salih et al. · The American Journal of Human Genetics · 2012 · 196 citations · Full text

Metabolic Syndrome, Energy Metabolism, Metabolic Disorder +9

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schüle, José Leal Loureiro et al. · The American Journal of Human Genetics · 2013 · 178 citations · Full text

Medicine, Physiology, Ganglioside Biosynthesis Responsible +7