1. H. Pagniez-Mammeri, A. Lombes, M. Brivet, H. Ogier-de Baulny, P. Landrieu, A. Legrand, and A. Slama. Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects. Mol Genet Metab, 96(4):196-200, 2009. Note: Journal ArticleUnited States. [WWW] Keyword(s): Cell Nucleus/*genetics, Child, Preschool, DNA, Complementary/genetics, Deoxyribonucleases/metabolism, Electron Transport Complex I/*deficiency/*genetics, *Genetic Screening, Humans, Mutation/*genetics, Oxidation-Reduction, Pyruvic Acid/metabolism.



2. K. Aure, H. Ogier de Baulny, P. Laforet, C. Jardel, B. Eymard, and A. Lombes. Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?. Brain, 130(Pt 6):1516-24, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA, Mitochondrial/blood/*genetics, Disease Progression, Follow-Up Studies, Gene Deletion, *Gene Rearrangement, Humans, Kearns-Sayer Syndrome/genetics, Middle Aged, Ophthalmoplegia, Chronic Progressive External/*genetics, Prognosis, Retrospective Studies, Risk Factors.



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. E. Roze, D. Gervais, S. Demeret, H. Ogier de Baulny, J. Zittoun, J. F. Benoist, G. Said, C. Pierrot-Deseilligny, and F. Bolgert. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol, 60(10):1457-62, 2003. Note: Clinical TrialJournal ArticleUnited States. [WWW] Keyword(s): Adolescent, Adult, Brain/pathology, Cobamides/metabolism, Female, Fibroblasts/metabolism, Homocysteine/blood/urine, Humans, Mental Disorders/*etiology/pathology/*psychology, Metabolism, Inborn Errors/complications/metabolism/*psychology, Methylmalonic Acid/blood/urine, Nervous System Diseases/*etiology/pathology/*psychology, Sural Nerve/pathology, Vitamin B 12/*analogs & derivatives/*metabolism.

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