- 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)...
- Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging FindingsFanny 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...
- Abnormal response to cortical activation in early stages of Huntington diseaseFanny 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...
- Early alterations of brain cellular energy homeostasis in Huntington disease modelsFanny 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....
- Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 miceFanny 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...
- Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseasesFanny Mochel
APHP, Department of Genetics, hÃ´pital de la SalpÃªtriÃ¨re, 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...
- Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's diseaseFanny 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...
- Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseasesF 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)...
- Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseasesF 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...
- [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...