dc.contributor.author | Lusakowska, Anna | |
dc.contributor.author | Topf, Ana | |
dc.contributor.author | Van den Bergh, Peter | |
dc.contributor.author | Vissing, John | |
dc.contributor.author | Witting, Nanna | |
dc.contributor.author | Nafissi, Shahriar | |
dc.contributor.author | Jamal-Omidi, Shirin | |
dc.contributor.author | Kostera-Pruszczyk, Anna | |
dc.contributor.author | Potulska-Chromik, Anna | |
dc.contributor.author | Deconinck, Nicolas | |
dc.contributor.author | Wallgren-Pettersson, Carina | |
dc.contributor.author | Strang-Karlsson, Sonja | |
dc.contributor.author | Colomer, Jaume | |
dc.contributor.author | Claeys, Kristl G. | |
dc.contributor.author | De Ridder, Willem | |
dc.contributor.author | Baets, Jonathan | |
dc.contributor.author | von der Hagen, Maja | |
dc.contributor.author | Fernandez-Torron, Roberto | |
dc.contributor.author | Zulaica Ijurco, Miren | |
dc.contributor.author | Espinal Valencia, Juan Bautista | |
dc.contributor.author | Hahn, Andreas | |
dc.contributor.author | Willis, Tracey | |
dc.contributor.author | Xu, Liwen | |
dc.contributor.author | Valkanas, Elise | |
dc.contributor.author | Mullen, Thomas E. | |
dc.contributor.author | Lek, Monkol | |
dc.contributor.author | MacArthur, Daniel G. | |
dc.contributor.author | Straub, Volker | |
dc.contributor.author | Durmus, Hacer | |
dc.contributor.author | Johnson, Katherine | |
dc.contributor.author | Bertoli, Marta | |
dc.contributor.author | Phillips, Lauren | |
dc.date.accessioned | 2021-03-03T07:47:44Z | |
dc.date.available | 2021-03-03T07:47:44Z | |
dc.identifier.citation | Johnson K., Bertoli M., Phillips L., Topf A., Van den Bergh P., Vissing J., Witting N., Nafissi S., Jamal-Omidi S., Lusakowska A., et al., "Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness", SKELETAL MUSCLE, cilt.8, 2018 | |
dc.identifier.issn | 2044-5040 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_13f96335-8593-4e28-8a32-6582400276e8 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/18835 | |
dc.identifier.uri | https://doi.org/10.1186/s13395-018-0170-1 | |
dc.description.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, the encoded proteins of which typically modulate the binding of alpha-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | HÜCRE BİYOLOJİSİ | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Temel Tıp Bilimleri | |
dc.subject | Histoloji-Embriyoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Tıp | |
dc.title | Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness | |
dc.type | Makale | |
dc.relation.journal | SKELETAL MUSCLE | |
dc.contributor.department | Newcastle University - UK , , | |
dc.identifier.volume | 8 | |
dc.contributor.firstauthorID | 254830 | |