Ganaëlle Remérand

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Stéphanie Bauché, S O’Regan, Yoshiteru Azuma et al. · The American Journal of Human Genetics · 2016 · 91 citations · Full text

Physiology, Episodic Apnea, Congenital Myasthenic Syndrome +1

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with <i><scp>SLC</scp>16A2</i> mutations

Ganaëlle Remérand, Odile Boespflug‐Tanguy, Davide Tonduti et al. · Developmental Medicine & Child Neurology · 2019 · 83 citations · Full text

Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet, Laurence Faivre, Jeanne Amiel et al. · Journal of Medical Genetics · 2018 · 61 citations · Full text

<i>FGF14</i>‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

Julie Piarroux, Florence Riant, Véronique Humbertclaude et al. · Annals of Clinical and Translational Neurology · 2020 · 46 citations · Full text

Further refinement of COL4A1 and COL4A2 related cortical malformations

Mara Cavallin, Manuèle Miné, Marion Philbert et al. · European Journal of Medical Genetics · 2018 · 44 citations

Developmental Anomaly, Corticobasal Degeneration, Neuroanatomy +6