المؤلفون: Nathalie Seta, Thierry Dupré, R. Menassa, J. Svahn, T. Stojkovic, Arnaud Bruneel, L. Michel-Calemard, Christophe Vial, Norma B. Romero, C. Bouchet-Seraphin, Nathalie Streichenberger, Pascal Laforêt

المصدر: Neuromuscular disorders : NMD. 29(7)

مصطلحات موضوعية: 0301 basic medicine, Adult, Cardiomyopathy, Dilated, Male, Pathology, medicine.medical_specialty, Mutation, Missense, Gene mutation, Mannosyltransferases, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, Congenital Disorders of Glycosylation, medicine, Missense mutation, Humans, Muscular dystrophy, Age of Onset, Muscle, Skeletal, Gene, Genetics (clinical), chemistry.chemical_classification, business.industry, Transferrin, Genetic Variation, Membrane Proteins, Dilated cardiomyopathy, Exons, medicine.disease, Magnetic Resonance Imaging, 030104 developmental biology, Neurology, chemistry, Muscular Dystrophies, Limb-Girdle, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe4d665225a55da2861da31ef764ca9
https://pubmed.ncbi.nlm.nih.gov/31266720

المؤلفون: M. Krahn, V. Biancalana, L. Michel-Calemard, J. Nectoux, F. Leturcq, C. Bouchet Seraphin, C. Bourdain-Acquaviva, R. Froissart, J. Melki, J. Urtizberea, A. Molon, E. Campana-Salort, J. Pouget, J. Rendu, F. Petit, C. Metay, N. Seta, D. Sternberg, J. Faure, M. Cossée

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE)

المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩
Neuromuscular Disorders, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩

مصطلحات موضوعية: Genetics, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ac5e1ea29b7b135485f324ec91c7ac4
https://hal.archives-ouvertes.fr/hal-01741737

المؤلفون: Tanya Stojkovic, Julia R. Dahlqvist, Carsten Thomsen, F. Leturcq, G. Solé, Thomas Krag, John Vissing, J. Nectoux, C. Bouchet-Seraphin, Mireille Cossée, Sofie T. Oestergaard

المساهمون: Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie hormonale, métabolique et génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), IFR3, Université Montpellier 1 (UM1)-Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Bordeaux [Bordeaux], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris]-Université Paris Diderot - Paris 7 (UPD7), CHU Cochin [AP-HP], Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Neurology Genetics
Neurology Genetics, American Academy of Neurology, 2016, 2, pp.e112. ⟨10.1212/NXG.0000000000000112⟩
Neurology: Genetics
Europe PubMed Central
Neurology Genetics, 2016, 2, pp.e112. ⟨10.1212/NXG.0000000000000112⟩

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Pathology, medicine.medical_specialty, Hamstring muscles, Glycosylation, Population, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, In patient, Muscular dystrophy, education, Genetics (clinical), education.field_of_study, medicine.diagnostic_test, biology, business.industry, Magnetic resonance imaging, medicine.disease, 030104 developmental biology, chemistry, biology.protein, Neurology (clinical), Antibody, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014e487d42dfd74b30ff48fd2ab77a0b
https://hal.archives-ouvertes.fr/hal-01818486

المؤلفون: T. Robert, Nathalie Seta, Martin Flamant, C. Bouchet-Seraphin, Anne Boutten, E. Vidal-Petiot, A. Barnier

المصدر: Clinica Chimica Acta. 493:S706

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, Urology, Medicine, General Medicine, Urine Creatinine, business, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::966c22ef7c97c3dd8be1817f087b1526
https://doi.org/10.1016/j.cca.2019.03.1562

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المؤلفون: Armelle Magot, J.M. Mussini, C. Bouchet Seraphin, Sandra Mercier, Y. Peron

المصدر: Neuromuscular Disorders. 24:900-901

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Weakness, Pathology, medicine.diagnostic_test, Depressed nasal bridge, business.industry, Cardiomyopathy, medicine.disease, Palpebral fissure, Neurology, Pediatrics, Perinatology and Child Health, Biopsy, medicine, Macroglossia, Neurology (clinical), Muscular dystrophy, medicine.symptom, Hypertelorism, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::63c00504c7e8a4ef459e90067429a902
https://doi.org/10.1016/j.nmd.2014.06.354

المؤلفون: Ana Lia Taratuto, N. Pozzo, A. Moresco, C. Bouchet Seraphin, M. de Castro, Norma B. Romero, V. Aguerre, Fabiana Lubieniecki, E. Foncuberta, J. Mozzoni, Soledad Monges

المصدر: Neuromuscular Disorders. 24:899-900

مصطلحات موضوعية: Microcephaly, medicine.medical_specialty, Pediatrics, Weakness, Muscle biopsy, Proximal muscle weakness, medicine.diagnostic_test, business.industry, Cardiomyopathy, medicine.disease, medicine.disease_cause, Hypotonia, Surgery, Jumping, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, Muscular dystrophy, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7773cbf82da073e05b3ac789c206133
https://doi.org/10.1016/j.nmd.2014.06.351

المؤلفون: Férechté Encha-Razavi, A. Eude-Caye, C. Besson, Bernard Grandchamp, Odile Boute, C. Bouchet-Seraphin, M. Chelbi, Louise Devisme, Brigitte Gilbert-Dussardier, E. Charluteau, C. Le Bizec, Philippe Loget, Samuel Quentin, Alice Goldenberg, Nathalie Seta, Kim Maincent, Marie Gonzales, P. Landrieu, Sandrine Vuillaumier-Barrot

المصدر: Neuromuscular disorders : NMD. 21(11)

مصطلحات موضوعية: Male, DNA Mutational Analysis, Biology, medicine.disease_cause, N-Acetylglucosaminyltransferases, Exon, Consanguinity, Fetus, Gene Duplication, Gene duplication, medicine, Humans, Muscular dystrophy, Child, Gene, Genetics (clinical), Sequence Deletion, Genetics, Mutation, Sequence Analysis, RNA, Point mutation, Intron, Walker-Warburg Syndrome, Exons, medicine.disease, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::170dcaf6fc51de22f8fdee8b71aa311d
https://pubmed.ncbi.nlm.nih.gov/21727005

المؤلفون: Susana Quijano-Roy, Robert-Yves Carlier, Pascale Guicheney, Nathalie Seta, Pascale Marcorelles, P. Van den Bergh, S. Peudenier, C. Bouchet-Seraphin, Svetlana Maugenre, Daniela Avila-Smirnow, M. Chelbi, Brigitte Estournet, Sandrine Vuillaumier-Barrot, Norma B. Romero

المصدر: Neuromuscular disorders : NMD. 19(3)

مصطلحات موضوعية: Adult, Genetic Markers, Male, Genotype, DNA Mutational Analysis, Nervous System Malformations, Muscular Dystrophies, White People, Young Adult, Atrophy, Fatal Outcome, Intellectual Disability, Fukuyama congenital muscular dystrophy, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Child, Creatine Kinase, Genetics (clinical), Genetics, business.industry, Haplotype, Brain, Membrane Proteins, Syndrome, medicine.disease, Fukutin, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Mutation, Congenital muscular dystrophy, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78cf4bd731b6997f38d217cdcacfc517
https://pubmed.ncbi.nlm.nih.gov/19179078

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