Nadia Bahi

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

Karine Poirier, David A. Keays, Fiona Francis et al. · Human Mutation · 2007 · 236 citations

Life Sciences, Genetics, Neuroscience +15

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Efraim H. Rosenberg, Lígia S. Almeida, Tjitske Kleefstra et al. · The American Journal of Human Genetics · 2004 · 213 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons

Karine Poirier, Hilde Van Esch, Gaëlle Friocourt et al. · Molecular Brain Research · 2004 · 96 citations

Life Sciences, Neurobiology, Neuroscience +13

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca ²⁺ -channel and neurite elongation

Frédéric Gambino, Alice Pavlowsky, Aurélie Béglé et al. · Proceedings of the National Academy of Sciences · 2007 · 88 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Specific clinical and brain MRI features in mentally retarded patients with mutations in the <i>Oligophrenin‐1</i> gene

Vincent des Portes, Nathalie Boddaert, Silvia Sacco et al. · American Journal of Medical Genetics Part A · 2003 · 58 citations

Life Sciences, Genetics, Neuroscience +17