Emmanuelle Plassart

Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families

B. Fontaine, J. Vale-Santos, K Jurkat-Rott et al. · Nature Genetics · 1994 · 234 citations

Life Sciences, Genetics, Molecular Genetics +7

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: Characterization of 14 C×32 mutations in 35 families

H Rouger, Éric Leguern, Nazha Birouk et al. · Human Mutation · 1997 · 65 citations

Life Sciences, Genetics, Molecular Genetics +17

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene

Emmanuelle Plassart, B. Eymard, L. Maurs et al. · Journal of the Neurological Sciences · 1996 · 60 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 <i>N</i>-acetyl transferase of <i>Saccharomyces cerevisiae</i>

Carla Tribioli, Mita Mancini, Emmanuelle Plassart et al. · Human Molecular Genetics · 1994 · 45 citations

Life Sciences, Genetics, Molecular Genetics +10