Marie‐Anne Cournelle

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes

Sophie Tézenas du Montcel, F. Clot, M. Vidailhet et al. · Journal of Medical Genetics · 2005 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>GRID2</i> mutations span from congenital to mild adult-onset cerebellar ataxia

Marie Coutelier, Lydie Bürglen, Emeline Mundwiller et al. · Neurology · 2015 · 77 citations

Life Sciences, Genetics, Neurology +17

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

Marie Hully, Sandrine Vuillaumier‐Barrot, Christiane Le Bizec et al. · European Journal of Medical Genetics · 2015 · 69 citations

Life Sciences, Genetics, Molecular Biology +6

<scp>l</scp>‐2‐Hydroxyglutaric aciduria: Two further cases

P. Divry, C. Jakobs, Christine Vianey‐Saban et al. · Journal of Inherited Metabolic Disease · 1993 · 31 citations

Life Sciences, Biochemistry, Clinical Biochemistry +3