Denys Chaigne

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics · 2000 · 984 citations

Neuronal Sodium Channel, Channelopathies, Molecular Neuroscience +11

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard et al. · Nature Genetics · 2001 · 364 citations

Rare Diseases, Developmental Biology, Mendelian Disorder +9

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations

Autoimmune Disease, Genetic Disorder, Genetics +8

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Mathieu Anheim, Marie‐Céline Fleury, B. Monga et al. · Neurogenetics · 2009 · 185 citations

Clinical Management, Eastern France, Degenerative Disease +4

Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

Bruno Moulard, Denys Chaigne, Dominique Mouthon et al. · The American Journal of Human Genetics · 1999 · 136 citations · Full text

Generalized Epilepsy, Mendelian Disorder, Cytogenetics +9