المؤلفون: Claude Desnuelle

المصدر: Bulletin de l'Académie Nationale de Médecine. 187:537-557

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Mitochondrial myopathy, Mitochondrial disease, medicine, Respiratory chain, General Medicine, Mitochondrion, Biology, medicine.disease, Genome, Human genetics, Mitochondrial Encephalomyopathies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9050bbaddb13790a17b3dc60efaf227cTest
https://doi.org/10.1016/s0001-4079Test(19)34027-0

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: R. Paul, Jean Pouget, C Butori, A. Saunières, Christian Richelme, Jean-François Pellissier, Véronique Paquis-Flucklinger, M. F. Monfort, Claude Desnuelle

المصدر: European Journal of Human Genetics. 8:331-338

مصطلحات موضوعية: Male, Mitochondrial DNA, Sequence analysis, Pedigree chart, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Intergenic region, Genetics, medicine, Humans, Child, Genetics (clinical), Repetitive Sequences, Nucleic Acid, Cerebellar ataxia, Point mutation, Breakpoint, Sequence Analysis, DNA, Middle Aged, Molecular biology, Phenotype, Pedigree, Female, medicine.symptom, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d23bc38dc5c4560f70c576bac3218bTest
https://doi.org/10.1038/sj.ejhg.5200463Test

المؤلفون: Patrick J. Cozzone, Claude Desnuelle, Jean Pouget, Denis Raccah, Bernard Vialettes, Pascale Silvestre-Aillaud, Henri Gin, Frédérique Etchary-Bouyx, David Ben Dahan, Pierre Jean Guillausseau, Danielle Vanuxen, Jean-Francois Pelissier, Frederic Orsini, Véronique Paquis-Fluckinger

المصدر: Diabetes Care. 18:1023-1028

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Pathology, medicine.medical_specialty, RNA, Transfer, Leu, Biopsy, Endocrinology, Diabetes and Metabolism, Mitochondrial disease, Molecular Sequence Data, Respiratory chain, Deafness, DNA, Mitochondrial, Polymerase Chain Reaction, Mitochondrial myopathy, Diabetes mellitus, Diabetes Mellitus, Internal Medicine, medicine, Humans, Point Mutation, Muscle, Skeletal, Aged, DNA Primers, Advanced and Specialized Nursing, Muscle biopsy, Base Sequence, medicine.diagnostic_test, business.industry, Respiratory chain complex, Middle Aged, medicine.disease, Pedigree, Lactic acidosis, Exercise Test, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae611c0412676d129048108331a8e7b4Test
https://doi.org/10.2337/diacare.18.7.1023Test

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: Eva Trevisson, Karine Auré, Anne Lombès, Gabriele Siciliano, Sabrina Sacconi, Odile Rigal, Corrado Angelini, Paola Tonin, Leonardo Salviati, Ségolène Aymé, Alberto Garcia Redondo, Claude Desnuelle, Michelangelo Mancuso

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), 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), Dpt. of Pediatrics, Universita degli Studi di Padova, Cartographie du Genome Humain a des Fins de Recherche Clinique, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Biochimie, Hôpital Robert Debré, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Università degli Studi di Padova = University of Padua (Unipd)

المصدر: Neuromuscul Disord
Neuromuscul Disord, 2010, 20 (1), pp.44-8. ⟨10.1016/j.nmd.2009.10.014⟩

مصطلحات موضوعية: Male, Ubiquinone, Myopathy, medicine.disease_cause, Bioinformatics, Cohort Studies, chemistry.chemical_compound, 0302 clinical medicine, Mitochondrial myopathy, Child, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Chromatography, High Pressure Liquid, Genetics, Aged, 80 and over, 0303 health sciences, Mutation, food and beverages, Mitochondrial Myopathies, Middle Aged, Phenotype, Treatment Outcome, Neurology, Child, Preschool, Female, medicine.symptom, Coenzyme Q10 deficiency, Adult, Mitochondrial DNA, Adolescent, Mitochondrial disease, Coenzyme Q10, Treatment, Biology, DNA, Mitochondrial, 03 medical and health sciences, Young Adult, medicine, Humans, Muscle, Skeletal, 030304 developmental biology, Aged, medicine.disease, chemistry, Coenzyme Q – cytochrome c reductase, Pediatrics, Perinatology and Child Health, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1512d6fae66b55769ff69c67f0055fTest
https://pubmed.ncbi.nlm.nih.gov/19945282Test

المؤلفون: Laurence A. Bindoff, Charlotte Dravet, Michelle Bureau, Claude Desnuelle, Mark A. Birch-Machin, Georges Serratrice, Jean-François Pellissier, Neil Howell, Douglass M. Turnbull

المصدر: Journal of the Neurological Sciences. 102:17-24

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Mitochondrial DNA, Cerebellar Ataxia, Hearing Loss, Sensorineural, Encephalopathy, Respiratory chain, Cytochrome-c Oxidase Deficiency, Epilepsies, Myoclonic, Mitochondrion, Biology, DNA, Mitochondrial, Oxidative Phosphorylation, Electron Transport Complex III, Mitochondrial myopathy, Multienzyme Complexes, Intellectual Disability, NAD(P)H Dehydrogenase (Quinone), medicine, Humans, Quinone Reductases, Multiple abnormalities, Electron Transport Complex II, Neuromuscular Diseases, Syndrome, medicine.disease, Mitochondria, Succinate Dehydrogenase, Mitochondrial respiratory chain, Neurology, Child, Preschool, Neurology (clinical), medicine.symptom, Oxidoreductases, Myoclonus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a7aba488e98725c77ac21ee47c9703Test
https://doi.org/10.1016/0022-510xTest(91)90088-o

المؤلفون: Sara Shanske, Eric A. Schon, Eduardo Bonilla, Claude Desnuelle, Leonardo Salviati, Yutaka Nishigaki, Michio Hirano, Winsome F. Walker, Mercy M. Davidson, Eva Trevisson, Darryl C. De Vivo, Salvatore DiMauro, Severine Delplace, Evelyn Hernandez-Rosa, Sabrina Sacconi

مصطلحات موضوعية: Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mutant, Respiratory chain, Biology, Mitochondrion, DNA, Mitochondrial, Genetics, Humans, Point Mutation, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Dominance (genetics), Base Sequence, Point mutation, General Medicine, Articles, Fibroblasts, RNA, Transfer, Trp, Molecular biology, Heteroplasmy, Mitochondria, Protein Biosynthesis, Transfer RNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7a701e947cb6de530f79589e42f9634Test
http://hdl.handle.net/11577/2471214Test

المؤلفون: Vincent Procaccio, Véronique Paquis-Flucklinger, J.C. Lambert, Sylvie Bannwarth, Tahseen Mozaffar, J. Jay Gargus, C. Rouzier, Jean Pouget, Jean-François Pellissier, Jose E. Abdenur, Shahram Attarian, Brigitte Chabrol, Jean-Philippe Azulay, Claude Desnuelle, Jason C. Poole, K. Fragaki, M. Pages, Patrick Calvas, Douglas C. Wallace, P. Labauge

المصدر: Mitochondrion. 8(2)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Respiratory chain, Biology, Human mitochondrial genetics, DNA, Mitochondrial, chemistry.chemical_compound, medicine, Humans, Genetic Testing, Molecular Biology, Genetic testing, Genetics, Nuclease, medicine.diagnostic_test, Infant, Cell Biology, Neuromuscular Diseases, Middle Aged, Endonucleases, Molecular biology, Heteroplasmy, Mtdna mutations, Pedigree, chemistry, Child, Preschool, biology.protein, Molecular Medicine, Female, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c39988e9a01992ec6edf3ee8510106Test
https://pubmed.ncbi.nlm.nih.gov/18078792Test

المؤلفون: Mourad, Naïmi, Sylvie, Bannwarth, Vincent, Procaccio, Jean, Pouget, Claude, Desnuelle, Jean-François, Pellissier, Agnes, Rötig, Arnold, Munnich, Patrick, Calvas, Christian, Richelme, Philippe, Jonveaux, Giovanni, Castelnovo, Mariella, Simon, Melvin, Simon, Michel, Clanet, Douglas, Wallace, Véronique, Paquis-Flucklinger

المصدر: European journal of human genetics : EJHG. 14(8)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ataxia, Adolescent, Molecular Sequence Data, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, Ophthalmoparesis, Frameshift mutation, Mitochondrial Proteins, Genetics, medicine, Missense mutation, Humans, Genetic Testing, Gene, Genetics (clinical), Chromatography, High Pressure Liquid, Sequence Deletion, Mutation, Polymorphism, Genetic, Base Sequence, DNA Helicases, Adenine Nucleotide Translocator 1, Infant, Middle Aged, Molecular biology, Phenotype, DNA Polymerase gamma, Pedigree, Child, Preschool, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401b7ec504e5f187c3700ecff02fafeeTest
https://pubmed.ncbi.nlm.nih.gov/16639411Test