Jean-Jacques Martin

Mutations in the Muscle SodiumChannel Gene (SCN4A) in 13 FrenchFamilies with Hyperkalemic PeriodicParalysis and ParamyotoniaCongenita: Phenotype to GenotypeCorrelations and Demonstration of thePredominance of Two Mutations

Emmanuelle Plassart, J Reboul, Claire-Sophie Rime et al. · European Journal of Human Genetics · 1994 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations

Eva Nelis, Sandra Simokovic, Vincent Timmerman et al. · Human Mutation · 1997 · 33 citations

Medicine, Genetics, Neurology +12

Processing of presenilin 1 in brains of patients with Alzheimerʼs disease and controls

Lydia Hendriks, Gopal Thinakaran, Christie L. Harris et al. · Neuroreport · 1997 · 30 citations

Life Sciences, Molecular Biology, Neuroscience +13

Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)

Vincent Timmerman, Ann Löfgren, E. Le Guern et al. · Human Genetics · 1996 · 26 citations

Life Sciences, Genetics, Molecular Genetics +10

Primary thalamic malignant fibrous histiocytoma of the dominant hemisphere causing severe neuropsychological symptoms.

N. Roosen, P. Cras, Philippe Paquier et al. · PubMed · 1989 · 22 citations

Medicine, Neurology, Neuroscience +17