Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sebastien Courrier"'
Autor:
Bevilacqua, Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J. Andoni Urtizberea, Nicolas Lévy, Marc Bartoli, Martin Krahn, Lilian Jara, Pablo Caviedes, Svetlana Gorokhova, Jorge A.
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 1076
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::0ad0b95394e5d6d4cf8815d9db7fa604
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