A. Gélot

A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

Vincent des Portes, Jean Marc Pinard, Pierre Billuart et al. · Cell · 1998 · 738 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

Johannes Häberle, Boris Görg, Frank Rutsch et al. · New England Journal of Medicine · 2005 · 211 citations

Medicine, Genetics, Molecular Genetics +17

X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

Dominique Bonneau, Annick Toutain, Annie Laquerrière et al. · Annals of Neurology · 2002 · 172 citations

Medicine, Neurology, Neuroscience +17

Agenesis of corpus callosum: prenatal diagnosis and prognosis

Marie‐Laure Moutard, Virginie Kieffer, Josué Feingold et al. · Child s Nervous System · 2003 · 159 citations

Medicine, Obstetrics, Pediatrics +12

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Diana Rodriguez, Fernande Gauthier, Enrico Bertini et al. · The American Journal of Human Genetics · 2001 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10