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1Phenotypic 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 -
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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