المؤلفون: Nathalie Streichenberger, Odile Dubourg, Christophe Vial, Damien Sternberg, Christophe Vandier, Anne-Laure Bedat-Millet, Karine Auré, Anne Lombès, Emmanuel Fournier, Claude Jardel, Frédéric Bouillaud, Valerie Drouin-Garraud, Helene Gervais-Bernard, Philippe Petiot, Bertrand Fontaine, Lucie Clarysse, Pascal Laforêt

المصدر: Neurology. 81:1810-1818

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Oxidative phosphorylation, Biology, medicine.disease_cause, MELAS syndrome, DNA, Mitochondrial, Paralyses, Familial Periodic, MELAS Syndrome, medicine, Humans, Cells, Cultured, Sequence Deletion, Genetics, Mutation, Periodic paralysis, Fibroblasts, Mitochondrial Proton-Translocating ATPases, medicine.disease, Molecular biology, Pedigree, Acetazolamide, Phenotype, Lactic acidosis, MT-ATP6, biology.protein, Anticonvulsants, Female, Neurology (clinical), Oxidative stress

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50eca35318d69dad0a3260a59534f59Test
https://doi.org/10.1212/01.wnl.0000436067.43384.0bTest

المؤلفون: Fabrice Jardin, Jean-Michel Vallat, Didier Hannequin, Annie Laquerrière, Olivier Martinaud, Anne-Laure Bedat-Millet, Lucile Musset, Snejana Jurici

المصدر: Case Reports in Neurology
Case Reports in Neurology, Vol 3, Iss 3, Pp 294-300 (2011)

مصطلحات موضوعية: Waldenström macroglobulinemia, Pathology, medicine.medical_specialty, biology, business.industry, Anti mag, Waldenstrom macroglobulinemia, Autopsy case, Anti-MAG, Amyotrophic lateral sclerosis, medicine.disease, Published: December, 2011, lcsh:RC346-429, Monoclonal gammopathy, nervous system, Immunoglobulin M, Gammopathy, medicine, biology.protein, Neurology (clinical), Antibody, medicine.symptom, business, lcsh:Neurology. Diseases of the nervous system

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862f296793a53acd18d8df1c4b99aad2Test
https://doi.org/10.1159/000335004Test

المؤلفون: Cécile Acquaviva-Bourdain, Bruno Eymard, Odile Boespflug-Tanguy, Isabelle Pénisson-Besnier, Brage S. Andresen, Anne-Laure Bedat-Millet, Anne Lombès, Anthony Behin, Christine Vianey-Saban, Denys Chaigne, Isabelle Delevaux, Michèle Brivet, Cécile Laroche, Pascal Laforêt, Brigitte Chabrol, Odile Rigal

المصدر: laforet, P, Acquaviva-Bourdain, C, Rigal, O, Brivet, M, Penisson-Besnier, I, Chabrol, B, Chaigne, D, Boespflug-Tanguy, O, Laroche, C, Bedat-Millet, A, Behin, A, Delevaux, I, Lombès, A, Andresen, B S, Eymard, B & Vianey-Saban, C 2009, ' Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-coenzyme A dehydrogenase (VLCAD) deficiency ', Neuromuscular Disorders, vol. 19, pp. 324-329 .

مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Genotype, DNA Mutational Analysis, Metabolic myopathy, Exercise intolerance, Biology, Compound heterozygosity, Rhabdomyolysis, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, Young Adult, Muscular Diseases, Carnitine, Internal medicine, medicine, Humans, Genetic Testing, Child, Beta oxidation, Cells, Cultured, Genetics (clinical), Exercise Tolerance, Muscle Weakness, Acyl-CoA Dehydrogenase, Long-Chain, Homozygote, Acyl CoA dehydrogenase, Middle Aged, medicine.disease, Endocrinology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), medicine.symptom, Differential diagnosis, Biomarkers, Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88752006eafbb4137e6ba00eac515201Test
https://doi.org/10.1016/j.nmd.2009.02.007Test