المؤلفون: Salvatore DiMauro, Romano Tenconi, Eva Trevisson, Francesca Pistollato, Sabrina Sacconi, Giuseppe Basso, Isabelle Bourget, Claude Desnuelle, Maria Cristina Baldoin, Roger Rezzonico, Leonardo Salviati

المصدر: Biochemical and Biophysical Research Communications. 337:832-839

مصطلحات موضوعية: Models, Molecular, Molecular Sequence Data, Saccharomyces cerevisiae, Biophysics, Respiratory chain, Mitochondrion, Kidney, Biochemistry, Cytochrome c oxidase assembly, Cell Line, Electron Transport Complex IV, Mitochondrial Proteins, Humans, Cytochrome c oxidase, Tissue Distribution, Amino Acid Sequence, Inner mitochondrial membrane, Molecular Biology, Sequence Homology, Amino Acid, biology, COX18, COX19, Membrane Proteins, Cell Biology, biology.organism_classification, Yeast, Mitochondria, Mitochondrial respiratory chain, Organ Specificity, biology.protein, Intermembrane space

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd844531f806ec5791db457e6ec72c29Test
https://doi.org/10.1016/j.bbrc.2005.09.127Test

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

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

المؤلفون: Noémie Clement, Didier F. Pisani, Sabrina Sacconi, Jean-Yves Kurzenne, Magali Plaisant, Agnès Loubat, Claude A. Dechesne, Claude Desnuelle, Christian Dani

المساهمون: Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Immunite anti-tumorale et chimiotactisme. Adenocarcinomes et métastases, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR50-Université Nice Sophia Antipolis (... - 2019) (UNS), CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)

المصدر: Stem Cells / Stem Cells (Miamisburg)
Stem Cells / Stem Cells (Miamisburg), Alphamed Press, 2010, epub ahead of print. ⟨10.1002/stem.537⟩

مصطلحات موضوعية: Adult, Cell type, Adolescent, Cellular differentiation, Biopsy, Population, Biology, Models, Biological, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Antigens, CD, medicine, Adipocytes, Humans, Cell Lineage, Progenitor cell, education, Child, Muscle, Skeletal, [SDV.BDD]Life Sciences [q-bio]/Development Biology, 030304 developmental biology, Aged, 0303 health sciences, education.field_of_study, Muscle Cells, Cluster of differentiation, Myogenesis, Stem Cells, Skeletal muscle, Infant, Cell Differentiation, Cell Biology, Middle Aged, CD56 Antigen, Cell biology, Clone Cells, medicine.anatomical_structure, Biochemistry, Adipogenesis, Child, Preschool, Molecular Medicine, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd5b369667f2fd445b45e9a01c0e4c95Test
https://pubmed.ncbi.nlm.nih.gov/20936706Test

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

المؤلفون: Sabine Santucci-Darmanin, Françoise Lespinasse, Véronique Paquis-Flucklinger, Terry Ashley, Claude Desnuelle, Deepika Walpita

المساهمون: UMR 6549 CNRS, Centre National de la Recherche Scientifique (CNRS), Department of Genetics, Yale University School of Medecine, Department of Genetics, Yale University Scool of Medecine

المصدر: FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2000, 14 (11), pp.1539-1547. ⟨10.1096/fj.99-0851com⟩

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Recombinant Fusion Proteins, Cell Cycle Proteins, MLH3, Biochemistry, Chromosomes, Chromosomal crossover, 03 medical and health sciences, Mice, 0302 clinical medicine, Adenosine Triphosphate, Spermatocytes, Genetics, Homologous chromosome, Animals, Humans, neoplasms, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Helix-Turn-Helix Motifs, Sequence Deletion, 0303 health sciences, Binding Sites, Chemistry, Synaptonemal Complex, Synapsis, Nuclear Proteins, DNA, Precipitin Tests, digestive system diseases, Neoplasm Proteins, Mice, Inbred C57BL, MSH5, Synaptonemal complex, Meiosis, MSH4, Homologous recombination, Carrier Proteins, MutL Protein Homolog 1, 030217 neurology & neurosurgery, Biotechnology, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745daffca6c786413f75132221721a3dTest
https://pubmed.ncbi.nlm.nih.gov/10928988Test

المؤلفون: Drago Bratkovic, Jonathan H. LeBowitz, Barry J. Byrne, Tarekegn Geberhiwot, Richard J. Barohn, Claude Desnuelle, Mark Roberts, William Lang, Eugen Mengel, Bruce A. Barshop, Pascal Laforêt, Derralynn Hughes

المصدر: Molecular Genetics and Metabolism. 108:S28

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Genetics, Art, Molecular Biology, Biochemistry, Humanities, Virology, media_common, Queen (playing card)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ad94391e656f0da2c4ff62b5d5988d1Test
https://doi.org/10.1016/j.ymgme.2012.11.048Test

المؤلفون: Sabrina Sacconi, Alberto Casarin, Eva Trevisson, Leonardo Salviati, Claude Desnuelle

المصدر: Neuromuscular Disorders. 17:830

مصطلحات موضوعية: biology, Chemistry, Cytochrome b, Cytochrome c, Cytochrome P450 reductase, Neurology, Biochemistry, Coenzyme Q – cytochrome c reductase, Pediatrics, Perinatology and Child Health, biology.protein, Cytochrome c oxidase, Neurology (clinical), Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0acd0052f17753ca6821e052041563f5Test
https://doi.org/10.1016/j.nmd.2007.06.234Test

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

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