• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage publications (all current information on this profile has been aggregated automatically from publisher and metadata sources).
  • Laurent Villard, Nicolas Lévy, +9 authors Michel Fontés
  • Medicine, Biology
  • Journal of medical genetics
  • 2001 (First Publication: 1 July 2001)
  • BACKGROUND Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2Continue Reading
  • Silvia Buervenich, Fengqing Xiang, +4 authors Lars Olson
  • Medicine, Biology
  • Human mutation
  • 2001 (First Publication: 1 May 2001)
  • We identified novel polymorphisms in the calcitonin/CGRPalpha (CALCA) gene by direct sequencing of genomic DNA and subsequent genotyping by RFLP (restriction fragment length polymorphism) detectionContinue Reading
  • Fengqing Xiang, Piero Nicolao, Françoise Chapon, Lars Edström, Zhiping Zhang
  • Medicine, Biology
  • Neuromuscular Disorders
  • 1999 (First Publication: 1 July 1999)
  • We recently mapped a locus for a new variant of autosomal dominant myopathy (Swedish families) with proximal muscle weakness, early respiratory muscle involvement, and unique muscle biopsy findingsContinue Reading