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pro vyhledávání: '"Océane Ballouhey"'
Autor:
Océane Ballouhey, Marie Chapoton, Benedicte Alary, Sébastien Courrier, Nathalie Da Silva, Martin Krahn, Nicolas Lévy, Noah Weisleder, Marc Bartoli
Publikováno v:
Biomedicines, Vol 11, Iss 5, p 1438 (2023)
Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of them involve major disruptions of the Dysf gene locu
Externí odkaz:
https://doaj.org/article/4d8ca5a89eb94758a09b53f5ef31b19d
Autor:
Océane Ballouhey, Sébastien Courrier, Virginie Kergourlay, Svetlana Gorokhova, Mathieu Cerino, Martin Krahn, Nicolas Lévy, Marc Bartoli
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is a transmembrane protein involved in several muscle functions like T-tubule maintenance and membrane repa
Externí odkaz:
https://doaj.org/article/b3937897f7ae4ee98dbe79ca78dc88c3
Publikováno v:
médecine/sciences
médecine/sciences, EDP Sciences, 2020, 36 (4), pp.358-366. ⟨10.1051/medsci/2020081⟩
médecine/sciences, EDP Sciences, 2020, 36 (4), pp.358-366. ⟨10.1051/medsci/2020081⟩
Muscular dystrophies are a group of rare muscular disorders characterized by weakness and progressive degeneration of the muscle. They are diseases of genetic origin caused by the mutation of one or more genes involved in muscle function. Despite sig
Publikováno v:
Medecine sciences : M/S. 36(4)
Muscular dystrophies are a group of rare muscular disorders characterized by weakness and progressive degeneration of the muscle. They are diseases of genetic origin caused by the mutation of one or more genes involved in muscle function. Despite sig