P Vicart

Summary

Affiliation: Institut Pasteur
Country: France

Publications

  1. ncbi request reprint A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
    P Vicart
    Institut Pasteur, Paris, France
    Nat Genet 20:92-5. 1998
  2. ncbi request reprint Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
    P Vicart
    Universite Paris VII, Paris, France
    Hum Genet 98:422-9. 1996
  3. ncbi request reprint Structural and functional analysis of a new desmin variant causing desmin-related myopathy
    B Goudeau
    Laboratoire Cytosquelette et Développement, UMR CNRS 7000, Faculte de Medecine, Paris, France
    Hum Mutat 18:388-96. 2001
  4. doi request reprint Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    K G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Neuromuscul Disord 18:656-66. 2008
  5. ncbi request reprint Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature
    J Wanschit
    Institute of Neurology, University of Vienna, Austria
    Clin Neuropathol 21:220-31. 2002
  6. ncbi request reprint Desmin myopathy
    L G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 1361, USA
    Brain 127:723-34. 2004

Collaborators

Detail Information

Publications6

  1. ncbi request reprint A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
    P Vicart
    Institut Pasteur, Paris, France
    Nat Genet 20:92-5. 1998
    ..These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder...
  2. ncbi request reprint Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy
    P Vicart
    Universite Paris VII, Paris, France
    Hum Genet 98:422-9. 1996
    ..These results suggest that the desmin gene is not primarily involved in this disease...
  3. ncbi request reprint Structural and functional analysis of a new desmin variant causing desmin-related myopathy
    B Goudeau
    Laboratoire Cytosquelette et Développement, UMR CNRS 7000, Faculte de Medecine, Paris, France
    Hum Mutat 18:388-96. 2001
    ..We conclude that Q389P mutation is the molecular event leading to the development of desmin-related myopathy...
  4. doi request reprint Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
    K G Claeys
    Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
    Neuromuscul Disord 18:656-66. 2008
    ..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...
  5. ncbi request reprint Myofibrillar (desmin-related) myopathy: clinico-pathological spectrum in 3 cases and review of the literature
    J Wanschit
    Institute of Neurology, University of Vienna, Austria
    Clin Neuropathol 21:220-31. 2002
    ..The morphologic denominator of hyaline structures and areas of myofibrillar destruction occurs in heterogeneous conditions and may overlap with features of inclusion body myopathy and mitochondrial myopathy...
  6. ncbi request reprint Desmin myopathy
    L G Goldfarb
    National Institutes of Health, Bethesda, MD 20892 1361, USA
    Brain 127:723-34. 2004
    ..Better understanding of disease pathogenesis would stimulate research focused on developing specific treatments for these conditions...