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  • Christel Depienne, Delphine Bouteiller, +22 authors Eric Leguern
  • Biology, Medicine
  • PLoS genetics
  • 2009 (First Publication: 1 February 2009)
  • Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series ofContinue Reading
  • Hamid Azzedine, Alessandra Bolino, +12 authors Eric Leguern
  • Medicine, Biology
  • American journal of human genetics
  • 2003 (First Publication: 1 May 2003)
  • Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, aContinue Reading
  • Stéphanie Millecamps, François Salachas, +23 authors Vincent Meininger
  • Biology, Medicine
  • Journal of Medical Genetics
  • 2010 (First Publication: 24 June 2010)
  • Background Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis (ALS). Methods The relative contributions of the different mutations to ALS wereContinue Reading
  • Sylvie Dejager, Hélène Bry-Gauillard, +7 authors Gérard Turpin
  • Medicine
  • The Journal of clinical endocrinology and…
  • 2002 (First Publication: 1 August 2002)
  • Our study aims to provide a comprehensive view of the endocrine features in Kennedy's disease (KD). Twenty-two men with KD underwent detailed endocrine investigations. Clinical signs of partialContinue Reading