Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Muscular dystrophy limb-girdle"'
Publikováno v:
Annals of Child Neurology, Vol 30, Iss 3, Pp 95-101 (2022)
Purpose Caveolinopathy is a disease caused by caveolin-3 (CAV3) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS) have enabled e
Externí odkaz:
https://doaj.org/article/2c9ffe8e6bf9453ca341cef0ac4f22ae
Introdução: As disferlinopatias são doenças genéticas causadas por alterações no gene da disferlina (DYSF), também denominadas distrofia muscular de cinturas (DMC) do tipo 2B, sendo a segunda em frequência em diversos países. A determinaç
Publikováno v:
QJM: An International Journal of Medicine. 114
Background Limb Girdle Muscular Dystrophies (LGMD) are a clinically and genetically heterogeneous group of disorders which share progressive muscle weakness and degenerative muscle changes involving the shoulder and pelvic girdle muscles. The diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99e6ebd400873f51cfffecdc7cc541b7
https://doi.org/10.1093/qjmed/hcab102.022
https://doi.org/10.1093/qjmed/hcab102.022
Autor:
Nagia Fahmy, Rasha M Ibrahim, Amr Ali Mohammed, Ahmed ElSadek, Haitham M Hamdy, Ahmed M. Bassiouny
Publikováno v:
QJM: An International Journal of Medicine. 114
Background Limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive muscle weakness and degenerative muscle changes. Studies have shown that ultrasound can be useful both
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12ccaced5bce107edf8d1c1142ad180d
https://doi.org/10.1093/qjmed/hcab102.023
https://doi.org/10.1093/qjmed/hcab102.023
Akademický článek
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Publikováno v:
Sleep. 44:A309-A309
Introduction Patients with muscular dystrophies (dystrophinopathy, congenital muscular dystrophy and limb-girdle muscular dystrophy) are at greater risk of obstructive sleep apnea (OSA). However, few studies have examined if they are also at risk for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e323dd944025de5aa41a128e72574a49
https://doi.org/10.1093/sleep/zsab072.790
https://doi.org/10.1093/sleep/zsab072.790
Autor:
Madoka Mori-Yoshimura, Aritoshi Iida, Shinichiro Hayashi, Rasha El Sherif, Akihiro Watanabe, Yasushi Oya, Mariko Okubo, Hajime Arahata, Ichizo Nishino, Satoru Noguchi
Publikováno v:
Journal of the Neurological Sciences
Journal of the Neurological Sciences, 2018, 395, pp.169-171. ⟨10.1016/j.jns.2018.10.015⟩
Journal of the Neurological Sciences, 2018, 395, pp.169-171. ⟨10.1016/j.jns.2018.10.015⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05bb15c19aa7aefbe45215304877e12b
https://hal.science/hal-03842277
https://hal.science/hal-03842277
Akademický článek
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Autor:
Isabela Pessa Anequini Leite
Publikováno v:
Biblioteca Digital de Teses e Dissertações da USPUniversidade de São PauloUSP.
Introdução: As disferlinopatias são doenças genéticas causadas por alterações no gene da disferlina (DYSF), também denominadas distrofia muscular de cinturas (DMC) do tipo 2B, sendo a segunda em frequência em diversos países. A determinaç
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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