F Mochel

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi [Contribution of in vitro NMR spectroscopy to metabolic and neurodegenerative disorders]
    F Mochel
    INSERM, Hopital de la Salpetriere, UMR 679, Paris
    Rev Neurol (Paris) 163:960-5. 2007
  2. ncbi Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
    Fanny Mochel
    Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 82:652-60. 2008
  3. ncbi Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
    K G Meilleur
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurogenetics 11:313-8. 2010
  4. ncbi Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA
    J Inherit Metab Dis 29:332-40. 2006

Detail Information

Publications4

  1. ncbi [Contribution of in vitro NMR spectroscopy to metabolic and neurodegenerative disorders]
    F Mochel
    INSERM, Hopital de la Salpetriere, UMR 679, Paris
    Rev Neurol (Paris) 163:960-5. 2007
    ..Finally, the combination of in vitro NMR spectroscopy with genetic analytical tools may constitute a successful pathophysiological approach to investigate neurological disorders of unknown etiology...
  2. ncbi Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
    Fanny Mochel
    Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 82:652-60. 2008
    ..ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur cluster biosynthesis. Our results therefore extend the range of known human diseases that are caused by defects in iron-sulfur cluster biogenesis...
  3. ncbi Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19
    K G Meilleur
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Neurogenetics 11:313-8. 2010
    ..11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43...
  4. ncbi Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential
    Charles R Roe
    Institute of Metabolic Disease, Baylor University Medical Center, 3812 Elm Street, Dallas, TX 75226, USA
    J Inherit Metab Dis 29:332-40. 2006
    ....