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المؤلفون: D. Perucca-Lostanlen, Véronique Paquis-Flucklinger, Claude Desnuelle, H. Narbonne, B. Vialettes, Pascal Staccini, A. Saunières, J.B. Hernandez
المصدر: Biochemical and Biophysical Research Communications. 277:771-775
مصطلحات موضوعية: Adult, Mitochondrial DNA, Mutant, Biophysics, Deafness, Biology, medicine.disease_cause, DNA, Mitochondrial, Biochemistry, Pathogenesis, Diabetes mellitus genetics, Diabetes mellitus, Diabetes Mellitus, medicine, Humans, Molecular Biology, Gene, Aged, Genetics, Mutation, Point mutation, Genetic Variation, Syndrome, Cell Biology, Middle Aged, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7380ae286bdb21b15513d85d576503aTest
https://doi.org/10.1006/bbrc.2000.3751Test -
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المؤلفون: A. Saunières, J. Camboulives, V. Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle, B. Chabrol, H. Giudicelli, F. Pellissier
المصدر: European Journal of Pediatrics. 154:557-562
مصطلحات موضوعية: Mitochondrial DNA, medicine.medical_specialty, Dizygotic twin, Respiratory chain, Cytochrome-c Oxidase Deficiency, DNA, Mitochondrial, Fatal Outcome, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, Twins, Dizygotic, Humans, Medicine, Cytochrome c oxidase, Muscle, Skeletal, Muscle biopsy, Respiratory distress, medicine.diagnostic_test, biology, business.industry, Brain, Infant, medicine.disease, Microscopy, Electron, Endocrinology, Biochemistry, Lactic acidosis, Pediatrics, Perinatology and Child Health, biology.protein, Muscle Hypotonia, Acidosis, Lactic, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a78bcec5d01f2314e1560f2a1c7eeb03Test
https://doi.org/10.1007/bf02074834Test -
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المؤلفون: Drago Bratkovic, Pascal Laforêt, Barry J. Byrne, William Lang, Robert D. Henderson, Claude Desnuelle, Richard J. Barohn, Mark Roberts, Jonathon LeBowitz, Tarekegn Hiwot, Bruce A. Barshop, Derralynn Hughes, Eugen Mengel
المصدر: Molecular Genetics and Metabolism. 111:S29
مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Late onset, Disease, medicine.disease, Biochemistry, Virology, Metachromatic leukodystrophy, Endocrinology, Genetics, medicine, Dementia, Juvenile, Age of onset, business, Molecular Biology, Developmental regression
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ef2eb916faf2e532fb4aa4ffd1b7c341Test
https://doi.org/10.1016/j.ymgme.2013.12.050Test -
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المؤلفون: G. Kozak-Ribbens, Claude Desnuelle, Sylviane Confort-Gouny, D. Vanuxem, David Bendahan, Dominique Figarella-Branger, Jean Pouget, Patrick J. Cozzone, Jean-François Pellissier, Georges Serratrice
المصدر: Neurology. 42:1203-1203
مصطلحات موضوعية: Adult, Male, Mitochondrial encephalomyopathy, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Adolescent, Ubiquinone, Oxidative phosphorylation, Phosphocreatine, chemistry.chemical_compound, Muscular Diseases, Mitochondrial myopathy, Internal medicine, medicine, Humans, Glycolysis, Acidosis, Chemistry, Muscles, Phosphorus, medicine.disease, Mitochondria, Muscle, Endocrinology, Biochemistry, Coenzyme Q – cytochrome c reductase, Exercise Test, Neurology (clinical), medicine.symptom, Ventilatory threshold, Oxidation-Reduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ce34c8ae8f8efa0f6c97bb3ee97fa1Test
https://doi.org/10.1212/wnl.42.6.1203Test -
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المؤلفون: Mark A. Birch-Machin, Laurence A. Bindoff, J.F. Pellissier, Brian A. C. Ackrell, Douglass M. Turnbull, Claude Desnuelle
المصدر: Biochemical and Biophysical Research Communications. 163:695-700
مصطلحات موضوعية: medicine.medical_specialty, Indoles, Adolescent, Skeletal muscle mitochondria, Blotting, Western, Encephalopathy, Biophysics, Respiratory chain, macromolecular substances, Biology, Mitochondrion, Biochemistry, Electron Transport, Electron Transport Complex III, Oxygen Consumption, Mitochondrial myopathy, Multienzyme Complexes, Internal medicine, NAD(P)H Dehydrogenase (Quinone), medicine, Humans, Quinone Reductases, Myopathy, Molecular Biology, Brain Diseases, Electron Transport Complex II, Neuromuscular Diseases, Cell Biology, Progressive muscle weakness, medicine.disease, Mitochondria, Muscle, Succinate Dehydrogenase, Endocrinology, Mitochondrial respiratory chain, Electrophoresis, Polyacrylamide Gel, Female, medicine.symptom, Oxidoreductases, Oligopeptides
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de8fa83bfee0cb064367ef9160ee5eafTest
https://doi.org/10.1016/0006-291xTest(89)92279-1