Éric Leguern

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Stéphanie Baulac, Gilles Huberfeld, Isabelle Gourfinkel‐An et al. · Nature Genetics · 2001 · 763 citations

Genetics, Psychiatric Genetics, Neuropharmacology +9

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Ana Cuesta, Laia Pedrola, Teresa Sevilla et al. · Nature Genetics · 2001 · 359 citations

Developmental Biology, Genetics, Experimental Neuropathology +5

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 331 citations

Biology, Neuroanatomy, Genetics +8

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Hamid Azzedine, Alessandra Bolino, T. Taïeb et al. · The American Journal of Human Genetics · 2003 · 301 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

<i>INF2</i>Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Olivia Boyer, Fabien Névo, Emmanuelle Plaisier et al. · New England Journal of Medicine · 2011 · 281 citations · Full text