Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Alex E. Bocchieri"'
Autor:
Doris G. Leung, Alex E. Bocchieri, Shivani Ahlawat, Michael A. Jacobs, Vishwa S. Parekh, Vladimir Braverman, Katherine Summerton, Jennifer Mansour, Genila Bibat, Carl Morris, Shannon Marraffino, Kathryn R. Wagner
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-12 (2020)
Abstract Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associat
Externí odkaz:
https://doaj.org/article/de005e5b5e2a402886b8da63e665c4ac
Autor:
Genila Bibat, Michael A. Jacobs, Vladimir Braverman, Jennifer Mansour, Shannon Marraffino, Kathryn R. Wagner, Carl Morris, Doris G. Leung, Shivani Ahlawat, Alex E. Bocchieri, Katherine Summerton, Vishwa S. Parekh
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-12 (2020)
BMC Neurology
BMC Neurology
Background Pathogenic variants in the FKRP gene cause impaired glycosylation of α-dystroglycan in muscle, producing a limb-girdle muscular dystrophy with cardiomyopathy. Despite advances in understanding the pathophysiology of FKRP-associated myopat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ef068cfd0b9c258cfbb58d651276e0
https://doi.org/10.1186/s12883-020-01774-5
https://doi.org/10.1186/s12883-020-01774-5