Emmanuelle Plassart‐Schiess

Novel muscle chloride channel ( <i>CLCN1</i> ) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

Emmanuelle Plassart‐Schiess, Adrian Gervais, B. Eymard et al. · Neurology · 1998 · 82 citations

Life Sciences, Genetics, Molecular Genetics +17

Functional expression of the Ile693Thr Na⁺ channel mutation associated with paramyotonia congenita in a human cell line

Emmanuelle Plassart‐Schiess, Loïc Lhuillier, Alfred L. George et al. · The Journal of Physiology · 1998 · 35 citations · Full text

Natural Sciences, Molecular Biology, Physiology +17

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Chiappe Diego, Josep Gámez, Emmanuelle Plassart‐Schiess et al. · Journal of Neurology · 1999 · 29 citations

Life Sciences, Genetics, Molecular Genetics +16