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of 70
pro vyhledávání: '"dysferlinopathies"'
Akademický článek
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Autor:
Claudiu Gabriel Socoliuc, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian
Publikováno v:
Romanian Journal of Neurology, Vol 20, Iss 2, Pp 264-270 (2021)
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial o
Externí odkaz:
https://doaj.org/article/f1630390a8f24a52a024b6aa45acb31d
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
Autor:
Alexandra Bastian, Amelia Dobrescu, Emilia Manole, Pharmacy, Craiova, Romania, Pharmacy, Bucharest, Romania, Alexandra Oprisan, Claudiu Socoliuc
Publikováno v:
Romanian Journal of Neurology, Vol 20, Iss 2, Pp 264-270 (2021)
Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede5ed2b5fe7287fab78e6cad2a6f512
https://doi.org/10.37897/rjn.2021.2.23
https://doi.org/10.37897/rjn.2021.2.23
Akademický článek
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Autor:
Ballouhey, Océane, Courrier, Sébastien, Kergourlay, Virginie, Gorokhova, Svetlana, Cerino, Mathieu, Krahn, Martin, Lévy, Nicolas, Bartoli, Marc
Publikováno v:
Frontiers in Cell and Developmental Biology
Frontiers in Cell and Developmental Biology, Frontiers media, 2021, 9, ⟨10.3389/fcell.2021.754555⟩
Frontiers in Cell and Developmental Biology, Frontiers media, 2021, 9, ⟨10.3389/fcell.2021.754555⟩
International audience; 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 maint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::76310b2ab89a7a70b6d9fea5f052625e
https://hal-amu.archives-ouvertes.fr/hal-03660761
https://hal-amu.archives-ouvertes.fr/hal-03660761
Autor:
Urtizberea J, Leturcq France
Publikováno v:
Annals of Indian Academy of Neurology, Vol 10, Iss 4, Pp 214-224 (2007)
Limb girdle muscular dystrophies (LGMD) are characterized by involvement of the pelvic and shoulder girdles, classically with an onset in the second or third decade and a slow progression as opposed to Duchenne muscular dystrophy. In fact, there are
Externí odkaz:
https://doaj.org/article/b03e219a00f2415d9c995b27ac469e77
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 16; Pages: 8932
Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81ad0323443c110d7b5ed3a62dbfccd
https://doi.org/10.3390/ijms23168932
https://doi.org/10.3390/ijms23168932
Autor:
Jochen Kinter, Michael Sinnreich
Publikováno v:
Swiss Medical Weekly, Vol 144, Iss 0708 (2014)
Muscular dystrophies are classically subdivided according to their clinical phenotype, and were historically defined as progressive myopathies in which muscle biopsies demonstrate muscle fibre necrosis and regeneration, as well as replacement of musc
Externí odkaz:
https://doaj.org/article/c6c2483230404ea38b0bf279965b4ce4