المؤلفون: B. Mousson de Camaret, A. Echaniz Laguna, Christine Tranchant, Béatrice Lannes, Marie-Céline Fleury

المصدر: Pratique Neurologique - FMC. 3:330-334

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3834c15acd1a3024ce411f1c7a1ec61e
https://doi.org/10.1016/j.praneu.2012.09.002

المؤلفون: B. Mousson de Camaret, Christophe Vial, Andoni Echaniz-Laguna, Stéphane Allouche, Patrizia Amati-Bonneau, Christine Tranchant, Lucie Guyant-Maréchal, Armelle Magot, M. Goideau-Sevrain, Mathieu Anheim, Thierry Kuntzer, A.-L. Bédat-Millet, Christophe Verny, N. Carvalho, C. Acquaviva-Bourdain, Philippe Petiot, Xavier Ayrignac, Guilhem Solé, Salah Omer, M. Béreau, M. Barth, Guillaume Taieb, François Ochsner, Stéphane Kremer, Grégory Tio

المساهمون: Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: J Neurol Sci
J Neurol Sci, 2016, 368, pp.70-6. ⟨10.1016/j.jns.2016.06.062⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Mitochondrial DNA, Encephalopathy, Mutation, Missense, Mitochondrial diseases, DNA-Directed DNA Polymerase, Biology, Ophthalmoparesis, Tertiary Care Centers, 03 medical and health sciences, Dysarthria, Young Adult, 0302 clinical medicine, Genotype, medicine, 80 and over, Missense mutation, Humans, Age of Onset, Genetic Association Studies, Aged, Retrospective Studies, Genetics, Aged, 80 and over, Cerebellar ataxia, Muscles, Brain, Middle Aged, medicine.disease, Magnetic Resonance Imaging, 3. Good health, DNA Polymerase gamma, Europe, 030104 developmental biology, Mitochondrial respiratory chain, Phenotype, Neurology, Mutation, Female, Neurology (clinical), medicine.symptom, Missense, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::860836ddbd99a481d1c882ef22b371b6
https://hal.archives-ouvertes.fr/hal-02066824

المؤلفون: F Chomienne, B Mousson de Camaret, C. Bonnemains, E Duveau, J. Berthelot, J.L Giniès

المصدر: Archives de Pédiatrie. 11:118-121

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Malabsorption, business.industry, Respiratory chain, Anorexia, medicine.disease, Gastroenterology, Food intolerance, Parenteral nutrition, Atrophy, Internal medicine, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine, Villous atrophy, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c7d07c197211f1550c04f7903a16528
https://doi.org/10.1016/j.arcped.2003.10.012

المؤلفون: B Mousson-de-Camaret, M.E Montelescaut, Guy Chazot, Nathalie Streichenberger, Stéphane Thobois, P Giraud, S Younes-Mhenni, E Broussolle

المصدر: La Revue de Médecine Interne. 23:1027-1029

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Cerebellar diseases, business.industry, Gastroenterology, Internal Medicine, Medicine, Cerebellar calcifications, Congenital disease, business, MELAS syndrome, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cfc6631373b8f046398bd93a2fd7072a
https://doi.org/10.1016/s0248-8663(02)00730-0

المؤلفون: Bernard Bonnotte, C. Thauvin, Maxime Samson, Bernard Lorcerie, Vanessa Leguy-Seguin, Sylvain Audia, B. Mousson de Camaret, Sabine Berthier

المصدر: La Revue de Médecine Interne. 35:A184-A185

مصطلحات موضوعية: Gastroenterology, Internal Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e792c7e632ed4544eb9494bdd226940
https://doi.org/10.1016/j.revmed.2014.03.313

المؤلفون: Fadia Medja, B Mousson de Camaret, Paule Frachon, Monique Malgat, Anne Lombès, Claude Jardel, Abdelhamid Slama, Jean-Pierre Mazat, Stéphane Allouche, Joël Lunardi

المساهمون: Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Physiopathologie mitochondriale, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de pathologie Est, Laboratoire de Biochimie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Laboratoire de biochimie et génétique moléculaire, CHU Grenoble, INSERM AFM (Association Francaise contre les Myopathies) GIS-Maladies rares, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Roux-Buisson, Nathalie

المصدر: Mitochondrion
Mitochondrion, 2009, 9 (5), pp.331-9. ⟨10.1016/j.mito.2009.05.001⟩
Mitochondrion, Elsevier, 2009, 9 (5), pp.331-9. ⟨10.1016/j.mito.2009.05.001⟩

مصطلحات موضوعية: Mitochondrial Diseases, High velocity, Analytical chemistry, Respiratory chain, Linear kinetics, [SDV.GEN] Life Sciences [q-bio]/Genetics, Computational biology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Electron Transport, 03 medical and health sciences, 0302 clinical medicine, Human muscle, Humans, Narrow range, MESH: Electron Transport, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, Molecular Biology, 030304 developmental biology, Internet, 0303 health sciences, Mitochondrial disorders, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Spectrophotometry, Chemistry, Free access, Reproducibility of Results, MESH: Mitochondrial Diseases, Cell Biology, Respiratory chain complexes, 3. Good health, MESH: France, MESH: Reproducibility of Results, MESH: Internet, Spectrophotometry, Clinical diagnosis, Molecular Medicine, France, Diagnostic test assessment, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f5b25367a7cdbfe42183cbc944a3b7
https://www.hal.inserm.fr/inserm-00516056/document

المؤلفون: Julien Jung, François Mauguière, Philippe Ryvlin, B. Mousson de Camaret, Pascale Clerc-Renaud, E. Ollagnon

المصدر: Neurology. 68(17)

مصطلحات موضوعية: Proband, Gait Ataxia, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Ataxia, Mutation, Missense, Progressive myoclonus epilepsy, DNA, Mitochondrial, Lafora disease, Epilepsy, Mitochondrial Encephalomyopathies, medicine, Electroretinography, Humans, Point Mutation, business.industry, Electroencephalography, Middle Aged, Mitochondrial Proton-Translocating ATPases, medicine.disease, Myoclonic Epilepsies, Progressive, Peripheral neuropathy, Phenotype, Organ Specificity, Myoclonic epilepsy, Female, Neurology (clinical), medicine.symptom, business, Myoclonus, Photic Stimulation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e75a64151ee2a736b0850c229da9e2
https://pubmed.ncbi.nlm.nih.gov/17452590

المؤلفون: C, Bonnemains, J, Berthelot, B, Mousson de Camaret, F, Chomienne, E, Duveau, J L, Giniès

المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 11(2)

مصطلحات موضوعية: Mitochondrial Diseases, Infant, Newborn, Humans, Female, Atrophy, Intestinal Mucosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7f8b78f1da0d0cc134d75ca125dc78b4
https://pubmed.ncbi.nlm.nih.gov/14761733

المؤلفون: S, Younes-Mhenni, S, Thobois, N, Streichenberger, P, Giraud, B, Mousson-de-Camaret, M E, Montelescaut, E, Broussolle, G, Chazot

المصدر: La Revue de medecine interne. 23(12)

مصطلحات موضوعية: Adult, Brain Diseases, Cerebellum, MELAS Syndrome, Calcinosis, Humans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c534e20d4ae2b7c7db61849f4228106c
https://pubmed.ncbi.nlm.nih.gov/12504241

المؤلفون: Douglass M. Turnbull, A. Saunières, B. Mousson de Camaret, Véronique Paquis-Flucklinger, B. Vialettes, Claude Desnuelle, H. Narbonne, D. Perucca-Lostanlen, Robert W. Taylor, C Hayes

المصدر: Biochimica et biophysica acta. 1588(3)

مصطلحات موضوعية: Mitochondrial DNA, Genotype, Mutant, Respiratory chain, Biology, Mitochondrion, Deafness, DNA, Mitochondrial, Cell Fusion, Diabetes Complications, 03 medical and health sciences, Diabetes mellitus genetics, Electron Transport Complex III, 0302 clinical medicine, Multienzyme Complexes, Diabetes Mellitus, Humans, Point Mutation, NADH, NADPH Oxidoreductases, Mitochondrial diabetes, Molecular Biology, Transmitochondrial cybrid, 030304 developmental biology, Genetics, 0303 health sciences, Homoplasmy, Electron Transport Complex I, Base Sequence, Point mutation, Electron Transport Complex II, Fibroblasts, Blotting, Northern, Molecular biology, Heteroplasmy, RNA, Transfer, Glu, Clone Cells, Succinate Dehydrogenase, Molecular Medicine, Oxidoreductases, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93d57488e5e143ad1c6b4ea6a8969579
https://pubmed.ncbi.nlm.nih.gov/12393175