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1دورية أكاديمية
المؤلفون: Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian
المصدر: International Journal of Molecular Sciences, Vol 21, Iss 6, p 2221 (2020)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, fshd, phenotype, genotype, association, correlation, methylation, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher
المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003550 (2013)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3681729?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test
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3دورية أكاديمية
المؤلفون: Camille Laberthonnière, Elva‐Maria Novoa‐del‐Toro, Mégane Delourme, Raphaël Chevalier, Natacha Broucqsault, Kilian Mazaleyrat, Nathalie Streichenberger, Véronique Manel, Rafaëlle Bernard, Emmanuelle Salort Campana, Shahram Attarian, Karine Nguyen, Jérôme D. Robin, Anais Baudot, Frédérique Magdinier
المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 1, Pp 621-635 (2022)
مصطلحات موضوعية: Facioscapulohumeral dystrophy, Induced pluripotent stem cells, System biology, Pathophysiology, Sarcomere, Muscle contraction, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695
العلاقة: https://doi.org/10.1002/jcsm.12835Test; https://doaj.org/toc/2190-5991Test; https://doaj.org/toc/2190-6009Test; https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563Test
الإتاحة: https://doi.org/10.1002/jcsm.12835Test
https://doaj.org/article/8f932ee1e4384c53a16531a5f4c02563Test -
4دورية أكاديمية
المؤلفون: Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, The French FSHD registry collaboration group
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Medicine
العلاقة: https://doi.org/10.1186/s13023-021-01793-6Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/898889ea615c4715b332595799961f95Test
الإتاحة: https://doi.org/10.1186/s13023-021-01793-6Test
https://doaj.org/article/898889ea615c4715b332595799961f95Test -
5دورية أكاديمية
المؤلفون: Céline Guien, Gaëlle Blandin, Pauline Lahaut, Benoît Sanson, Katia Nehal, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Nicolas Lévy, Sabrina Sacconi, Christophe Béroud
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: Patient registry, Database, Facioscapulohumeral muscular dystrophy, FSHD, FSHD1, FSHD2, Medicine
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0960-xTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/1d253328860746cc93b723944ebbca3cTest
الإتاحة: https://doi.org/10.1186/s13023-018-0960-xTest
https://doaj.org/article/1d253328860746cc93b723944ebbca3cTest -
6
المؤلفون: Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gina Ravenscroft, Franclo Henning, Frederique Magdinier, Nienke van der Stoep, Patrick J. van der Vliet, Rafaëlle Bernard, Pedro J. Tomaselli, Mark R. Davis, Ichizo Nishino, Piraye Oflazer, Valerie Race, Venugopalan Y. Vishnu, Victoria Williams, Cláudia F. R. Sobreira, Silvere M. van der Maarel, Steve A. Moore, Nicol C. Voermans, Richard J. L. F. Lemmers
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7Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes
المؤلفون: Karine Nguyen, Guillaume Bassez, Martin Krahn, Rafaelle Bernard, Pascal Laforêt, Véronique Labelle, Jon Andoni Urtizberea, Dominique Figarella-Branger, Norma Romero, Shahram Attarian, France Leturcq, Jean Pouget, Nicolas Lévy, Bruno Eymard
المصدر: Archives of neurology. 64(8)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Dysferlinopathy, Muscle Proteins, Biology, Gene mutation, Asymptomatic, Polymyositis, Severity of Illness Index, Muscular Dystrophies, Dysferlin, Arts and Humanities (miscellaneous), medicine, Humans, Muscular dystrophy, Diagnostic Errors, Myopathy, Muscle, Skeletal, Creatine Kinase, Aged, Retrospective Studies, Genetics, Membrane Proteins, Middle Aged, medicine.disease, Phenotype, Muscular Dystrophies, Limb-Girdle, Mutation, biology.protein, Arm, Disease Progression, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3884da67348cc47b0e8eaeb1aca38bc0Test
https://pubmed.ncbi.nlm.nih.gov/17698709Test -
8
المؤلفون: Martin, Krahn, Rafaelle, Bernard, Christophe, Pecheux, El Hadi, Hammouda, Bruno, Eymard, Adolfo, Lopez de Munain, Anna Maria, Cobo, Norma, Romero, Andoni, Urtizberea, France, Leturcq, Nicolas, Levy
المصدر: Clinical genetics. 69(5)
مصطلحات موضوعية: Adult, Male, Adolescent, Calpain, DNA Mutational Analysis, Muscle Proteins, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Humans, Female, Genetic Testing, Child, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::68fe949e99b470d46fa74e666230fdd0Test
https://pubmed.ncbi.nlm.nih.gov/16650086Test