Claire Guissart

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 185 citations · Full text

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Molecular Neuroscience, Neurological Disorder, Genetic Disorder +13

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

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

Solveig Montaut, Christine Tranchant, Nathalie Drouot et al. · JAMA Neurology · 2018 · 68 citations · Full text

Delayed‐onset Friedreich's ataxia revisited

Claire Lecocq, Perrine Charles, Jean‐Philippe Azulay et al. · Movement Disorders · 2015 · 67 citations