Zobrazeno 1 - 10
of 173
pro vyhledávání: '"dystroglycanopathies"'
Autor:
Rui Lois Tan, Francesca Sciandra, Wolfgang Hübner, Manuela Bozzi, Jens Reimann, Susanne Schoch, Andrea Brancaccio, Sandra Blaess
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/0a43d2d26041430fb4499d4af1ec9563
Akademický článek
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Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 11 (2023)
Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystr
Externí odkaz:
https://doaj.org/article/9d1cf515aea14123b4f73e15cef97a36
Autor:
Elisabeth A Kilroy, Amanda C Ignacz, Kaylee L Brann, Claire E Schaffer, Devon Varney, Sarah S Alrowaished, Kodey J Silknitter, Jordan N Miner, Ahmed Almaghasilah, Tashawna L Spellen, Alexandra D Lewis, Karissa Tilbury, Benjamin L King, Joshua B Kelley, Clarissa A Henry
Publikováno v:
eLife, Vol 11 (2022)
Neuromuscular electrical stimulation (NMES) allows activation of muscle fibers in the absence of voluntary force generation. NMES could have the potential to promote muscle homeostasis in the context of muscle disease, but the impacts of NMES on dise
Externí odkaz:
https://doaj.org/article/e30495404e4840359dd4fb9984b3b084
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
ISPD gene mutation-related diseases have high clinical and genetic heterogeneity, and no studies have yet reported any effective treatments. We describe six patients with dystroglycanopathies caused by ISPD gene mutations and analyze their genotypes
Externí odkaz:
https://doaj.org/article/56f5114f8c144521b67cf8d3115f69fb
Autor:
Carolina Ortiz-Cordero, Alessandro Magli, Neha R Dhoke, Taylor Kuebler, Sridhar Selvaraj, Nelio AJ Oliveira, Haowen Zhou, Yuk Y Sham, Anne G Bang, Rita CR Perlingeiro
Publikováno v:
eLife, Vol 10 (2021)
Mutations in the fukutin-related protein (FKRP) cause Walker-Warburg syndrome (WWS), a severe form of congenital muscular dystrophy. Here, we established a WWS human induced pluripotent stem cell-derived myogenic model that recapitulates hallmarks of
Externí odkaz:
https://doaj.org/article/6ca9cf05892c4def82f1120b98d65541
Autor:
Andrea J. Arreguin, Holly Colognato
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Laminin α2 gene (LAMA2)-related Congenital Muscular Dystrophy (CMD) was distinguished by a defining central nervous system (CNS) abnormality—aberrant white matter signals by MRI—when first described in the 1990s. In the past 25 years, researcher
Externí odkaz:
https://doaj.org/article/055c913ecb7f49f0a9e950bd880c8b1e
Autor:
Guja Astrea, Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli, the Italian CMD Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dys
Externí odkaz:
https://doaj.org/article/942cbbd3b0c34010a24cbec1fcc32feb
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