Christelle Rougeot

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<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

Clinico‐Genetic, Imaging and Molecular Delineation of <scp><i>COQ8A</i></scp>‐Ataxia: A Multicenter Study of 59 Patients

Andreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz et al. · Annals of Neurology · 2020 · 77 citations · Full text

Life Sciences, Genetics, Neurology +16

Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis

Mona Massoud, M. Cagneaux, Cathérine Garel et al. · Ultrasound in Obstetrics and Gynecology · 2013 · 66 citations · Full text

Medicine, Obstetrics, Diagnostic Imaging +16

Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve et al. · Epilepsia · 2015 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +17