Affiliation: National Institutes of Health
- [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...
- Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny 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...
- Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19K 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...
- Anaplerotic diet therapy in inherited metabolic disease: therapeutic potentialCharles 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....