1. A. Yanagisawa, C. Bouchet, S. Quijano-Roy, S. Vuillaumier-Barrot, N. Clarke, S. Odent, D. Rodriguez, N. B. Romero, M. Osawa, T. Endo, T. A. Lia, N. Seta, and P. Guicheney. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med Genet, 52(4):201-6, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW]



2. K. Aure, G. Fayet, J. P. Leroy, E. Lacene, N. B. Romero, and A. Lombes. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Brain, 129(Pt 5):1249-59, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Aged, *Apoptosis, Caspase 3, Caspases/metabolism, Cell Nucleus/ultrastructure, Cell Respiration, Child, DNA, Mitochondrial/analysis/genetics, Electron Transport Complex IV/metabolism, Female, Gene Deletion, Humans, In Situ Nick-End Labeling, Infant, MELAS Syndrome/genetics/pathology, Male, Middle Aged, Mitochondria, Muscle/metabolism/*pathology, Mitochondrial Myopathies/genetics/metabolism/*pathology, Muscle Fibers/enzymology, Muscle, Skeletal/ultrastructure, Point Mutation, bcl-2-Associated X Protein/metabolism.



3. K. Aure, J. F. Benoist, H. Ogier de Baulny, N. B. Romero, O. Rigal, and A. Lombes. Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology, 63(4):727-9, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Benzoquinones/adverse effects/therapeutic use, Carnitine/therapeutic use, Cerebellar Ataxia/*genetics, Cerebellum/pathology, Child, Preschool, Disease Progression, Drug Therapy, Combination, Exercise Tolerance/drug effects/*genetics, Female, Follow-Up Studies, Humans, Lactates/*blood, Magnetic Resonance Imaging, Mitochondria, Muscle/chemistry, Mitochondrial Myopathies/complications/drug therapy/*genetics/metabolism, Muscle, Skeletal/pathology, Treatment Failure, Ubiquinone/*deficiency/pharmacokinetics/therapeutic use, Vomiting/etiology.



4. P. Laforet, C. Wary, S. Duteil, E. de Kerviler, P. G. Carlier, A. Lombes, N. B. Romero, M. Fardeau, B. Eymard, and A. Leroy-Willig. [Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]. Rev Neurol (Paris), 159(1):56-67, 2003. Note: Clinical TrialEnglish AbstractJournal ArticleResearch Support, Non-U.S. Gov'tFrance. [WWW] Keyword(s): Adolescent, Adult, Aged, Exercise, Exercise Test, Exercise Tolerance/*physiology, Female, Glycogen/metabolism, Glycolysis, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal/enzymology/*pathology/physiopathology, Phosphocreatine/metabolism, Rhabdomyolysis/enzymology/*pathology/physiopathology.

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