F Mochel

Summary

Country: France

Publications

  1. pmc Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
    F Mochel
    INSERM UMR S679, Hopital de la Salpetriere, 47 Bld de l Hopital, Bâtiment Nouvelle Pharmacie 4ème étage, 75013 Paris, France
    Brain 132:801-9. 2009
  2. doi request reprint Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
    Fanny Mochel
    French Institute of Health and Medical Research, UMR S975, Paris, Frane
    Ann Neurol 72:433-41. 2012
  3. doi request reprint Abnormal response to cortical activation in early stages of Huntington disease
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital La Salpetriere, Paris, France
    Mov Disord 27:907-10. 2012
  4. pmc Early alterations of brain cellular energy homeostasis in Huntington disease models
    Fanny Mochel
    INSERM UMR S975 and Assistance Publique des Hôpitaux de Paris, Department of Genetics, Hopital La Salpetriere, 75013 Paris, France
    J Biol Chem 287:1361-70. 2012
  5. pmc 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
  6. pmc Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
    Fanny Mochel
    APHP, Department of Genetics, hôpital de la Salpêtrière, Paris, France
    Biochim Biophys Acta 1802:1112-7. 2010
  7. pmc 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
  8. pmc Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
    F Mochel
    Inserm UMR S975, Hopital de la Salpetriere, Paris, France
    Neurology 74:302-5. 2010
  9. doi request reprint Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases
    F Lamari
    Neurometabolic Unit, Pitie Salpetriere Hospital, AP HP and University Pierre and Marie Curie, Paris, France
    J Inherit Metab Dis 36:411-25. 2013
  10. ncbi request reprint [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

Detail Information

Publications10

  1. pmc Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
    F Mochel
    INSERM UMR S679, Hopital de la Salpetriere, 47 Bld de l Hopital, Bâtiment Nouvelle Pharmacie 4ème étage, 75013 Paris, France
    Brain 132:801-9. 2009
    ..We therefore identified a new free sialic acid syndrome in which cerebellar ataxia is the leading symptom. The term CAFSA is suggested (cerebellar ataxia with free sialic acid)...
  2. doi request reprint Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings
    Fanny Mochel
    French Institute of Health and Medical Research, UMR S975, Paris, Frane
    Ann Neurol 72:433-41. 2012
    ..To improve clinical diagnosis and enable future evaluation of therapeutic strategies, we conducted a multinational study of the natural history and imaging features of APBD...
  3. doi request reprint Abnormal response to cortical activation in early stages of Huntington disease
    Fanny Mochel
    Inserm UMR S975, Institut du Cerveau et de la Moelle, Hopital La Salpetriere, Paris, France
    Mov Disord 27:907-10. 2012
    ..We wished to identify noninvasive in vivo biomarkers of brain energy deficit in Huntington disease...
  4. pmc Early alterations of brain cellular energy homeostasis in Huntington disease models
    Fanny Mochel
    INSERM UMR S975 and Assistance Publique des Hôpitaux de Paris, Department of Genetics, Hopital La Salpetriere, 75013 Paris, France
    J Biol Chem 287:1361-70. 2012
    ....
  5. pmc 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...
  6. pmc Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
    Fanny Mochel
    APHP, Department of Genetics, hôpital de la Salpêtrière, 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...
  7. pmc 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...
  8. pmc Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
    F Mochel
    Inserm UMR S975, Hopital de la Salpetriere, Paris, France
    Neurology 74:302-5. 2010
    ..To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS)...
  9. doi request reprint Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases
    F Lamari
    Neurometabolic Unit, Pitie Salpetriere Hospital, AP HP and University Pierre and Marie Curie, Paris, France
    J Inherit Metab Dis 36:411-25. 2013
    ..These synthesis defects of complex lipid molecules stand at the frontier between classical inborn errors of metabolism and other genetic diseases involving the metabolism of structural proteins...
  10. ncbi request reprint [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...