Éric Leguern
Centre National de la Recherche Scientifique(FR)Inserm(FR)Sorbonne Université(FR)Sorbonne Paris Cité(FR)Assistance Publique – Hôpitaux de Paris(FR)Pitié-Salpêtrière Hospital(FR)Institut du Cerveau(FR)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetics and Neurodevelopmental Disorders, Neurological diseases and metabolism, Epilepsy research and treatment, Genetic Neurodegenerative Diseases
Most-Cited Works
- → First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene(2001)764 cited
- → The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease(2001)359 cited
- → Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum(2007)331 cited
- → 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(2003)302 cited
- → INF2Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy(2011)282 cited
- → Mutations of DEPDC5 cause autosomal dominant focal epilepsies(2013)255 cited