Fanny Mochel

Summary

Affiliation: CHU Dupuytren
Country: France

Publications

  1. ncbi Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy
    Fanny Mochel
    Metabolic Unit, Departments of Pediatrics and Biochemistry, Hospital Necker Enfants Malades, Paris, France
    Mol Genet Metab 84:305-12. 2005
  2. ncbi Energy deficit in Huntington disease: why it matters
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Paris, France
    J Clin Invest 121:493-9. 2011
  3. ncbi Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital de la Salpetriere, and Universite Pierre et Marie Curie, Paris, France
    PLoS ONE 6:e18336. 2011
  4. ncbi Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
    Fanny Mochel
    INSERM UPMC NEB, UMR S975, Centre de Recherche Institut du Cerveau et de la Moelle, Paris, France
    Eur J Hum Genet 18:1057-60. 2010
  5. ncbi Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
    Fanny Mochel
    APHP, Department of Genetics, Hopital de la Salpetriere, Paris, France
    Biochim Biophys Acta 1802:1112-7. 2010
  6. 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

Publications6

  1. ncbi Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy
    Fanny Mochel
    Metabolic Unit, Departments of Pediatrics and Biochemistry, Hospital Necker Enfants Malades, Paris, France
    Mol Genet Metab 84:305-12. 2005
    ....
  2. ncbi Energy deficit in Huntington disease: why it matters
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Paris, France
    J Clin Invest 121:493-9. 2011
    ..Here we review the clinical, biochemical, and molecular evidence of an energy deficit in HD and discuss the mechanisms underlying mitochondrial and related alterations...
  3. ncbi Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital de la Salpetriere, and Universite Pierre et Marie Curie, Paris, France
    PLoS ONE 6:e18336. 2011
    ..Therefore, we describe the earliest alterations of DA and serotonin metabolism in a HD murine model. Our findings likely underpin the neuropsychological symptoms at time of disease onset in HD...
  4. ncbi Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease
    Fanny Mochel
    INSERM UPMC NEB, UMR S975, Centre de Recherche Institut du Cerveau et de la Moelle, Paris, France
    Eur J Hum Genet 18:1057-60. 2010
    ..A significant increase in serum IGF1 was also observed in all patients (205+/-60 ng/ml versus 246+/-68 ng/ml, P=0.010). This study provides a rationale for extending our anaplerotic approach with triheptanoin in HD...
  5. ncbi Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
    Fanny Mochel
    APHP, Department of Genetics, Hopital de la Salpetriere, Paris, France
    Biochim Biophys Acta 1802:1112-7. 2010
    ..In order to identify biomarkers useful for the diagnosis of genetic white matter disorders we compared the metabolic profile of patients with leukodystrophies with a hypomyelinating or a non-hypomyelinating MRI pattern...
  6. 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
    ....