Zobrazeno 1 - 10
of 56
pro vyhledávání: '"limb-girdle muscle weakness"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 4, Pp 453-460 (2023)
Introduction: There is no bedside clinical examination-based prediction score for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in children with neuromuscular diseases (NMDs) presenting with proximal limb-girdle weakness. Methods: W
Externí odkaz:
https://doaj.org/article/027dd9aec41d46d9899a0062df06f6b2
Autor:
Jorge A. Bevilacqua, Maria del Rosario Guecaimburu Ehuletche, Abayuba Perna, Alberto Dubrovsky, Marcondes C. Franca, Steven Vargas, Madhuri Hegde, Kristl G. Claeys, Volker Straub, Nadia Daba, Roberta Faria, Magali Periquet, Susan Sparks, Nathan Thibault, Roberto Araujo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder an
Externí odkaz:
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Autor:
Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
Publikováno v:
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Abstract Background Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies
Externí odkaz:
https://doaj.org/article/7b793b20033f4da8837130c6461f81e4
Akademický článek
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Akademický článek
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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:
Cerino, Mathieu, Gonzalez-Hormazabal, Patricio, Abaji, Mario, Courrier, Sebastien, Puppo, Francesca, Mathieu, Yves, Trangulao, Alejandra, Earle, Nicholas, Castiglioni, Claudia, Diaz, Jorge, Campero, Mario, Hughes, Ricardo, Vargas, Carmen, Cortes, Rocio, Kleinsteuber, Karin, Acosta, Ignacio, Urtizberea, J. Andoni, Levy, Nicolas, Bartoli, Marc, Krahn, Martin, Jara, Lilian, Caviedes, Pablo, Gorokhova, Svetlana, Bevilacqua, Jorge A.
Publikováno v:
Genes
Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩
Genes, 2022, 13 (6), ⟨10.3390/genes13061076⟩
International audience; 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 fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::06f78fed88ef0a365fe76465377f7aec
https://pubmed.ncbi.nlm.nih.gov/35741838
https://pubmed.ncbi.nlm.nih.gov/35741838
Akademický článek
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Autor:
Marcondes C. França, Abayuba Perna, Nathan Thibault, Madhuri Hegde, Jorge A. Bevilacqua, Roberto Araujo, Kristl G. Claeys, Alberto Dubrovsky, Nadia Daba, Maria del Rosario Guecaimburu Ehuletche, Magali Periquet, Volker Straub, Steven Vargas, Susan Sparks, Roberta Faria
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d4c75da510790e75daea668d33e21e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Autor:
Robin H. Lachmann, Janice L. Holton, Ros Quinlivan, M. Desikan, Anthony H.V. Schapira, Renata S Scalco, Rahul Phadke, Andreea Manole, Henry Houlden, A. Gardiner
Publikováno v:
Neuromuscular Disorders. 28:346-349
An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs, con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::463bd5b2724ce20ca1a80f1b0482171c
https://doi.org/10.1016/j.nmd.2018.01.002
https://doi.org/10.1016/j.nmd.2018.01.002