Julie Pilliod

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

Cyril Goizet, Christel Depienne, Giovanni Bénard et al. · Human Mutation · 2011 · 95 citations

Genetics, Molecular Biology, Molecular Genetics +16

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of <scp>C</scp>harlevoix–<scp>S</scp>aguenay

Julie Pilliod, Sébastien Moutton, Julie Lavie et al. · Annals of Neurology · 2015 · 74 citations

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5

Cécilia Marelli, Foudil Lamari, Dominique Rainteau et al. · Brain · 2017 · 73 citations · Full text

Pain Disorders, Genetic Testing, Pain Medicine +26

Fetal phenotypes in otopalatodigital spectrum disorders

Sophie Naudion, Sébastien Moutton, Isabelle Coupry et al. · Clinical Genetics · 2015 · 22 citations

Opd Syndromes, Genetics, Fetal Medicine +17

Clearance of intracellular tau protein from neuronal cells via VAMP8-induced secretion

Julie Pilliod, Alexandre Desjardins, Camille Pernègre et al. · Journal of Biological Chemistry · 2020 · 21 citations · Full text