Results 131 to 140 of about 16,504 (255)

Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort

BMC Neurology
Background Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a
Reem M. Alhammad, Marwa L. Alrehaili, Hana M. Albulaihe, Sultan S. Aljereish, Mohammed H. Alanazy   +4 more
doaj   +1 more source

Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice

The Journal of Clinical Investigation
The dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova, Daniel Helzer, Ravinder Malik, Hafsa Mamsa, Jackson Walker, Mark Maslanka, Tess S. Fleser, Mohammad H. Afsharinia, Shiheng Liu, Johan Holmberg, Z. Hong Zhou, Eric J. Deeds, Kirk C. Hansen, Elizabeth M. McNally, Rachelle H. Crosbie   +14 more
doaj   +1 more source

Unravelling limb-girdle muscular dystrophy in an HIV patient: a diagnostic odyssey [PDF]

Sanjay Chouksey, Neetu Rani Dhiman, Anand Kumar, Varun Kumar Singh, Monika Shailesh, Deepika Joshi   +5 more
openalex   +1 more source

Pain interference and fatigue in limb-girdle muscular dystrophy R9 [PDF]

, 2023
Anna Reelfs, Carrie Stephan, Shelley Mockler, Katie M. Laubscher, M. Bridget Zimmerman, Katherine D. Mathews   +5 more
openalex   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

Genetically confirmed limb-girdle muscular dystrophy type 2B with DYSF mutation using gene panel sequencing

, 2020
Sook Joung Lee, Eunseok Choi, Soyoung Shin, Joonhong Park   +3 more
openalex   +1 more source

Impaired myogenesis in limb girdle muscular dystrophy type 2B. [PDF]

Sci Rep
Souza LS, Ishiba R, Ribeiro-Junior AF, Zogbi IA, Bouragba D, Bigot A, Mouly V, Vainzof M.   +7 more
europepmc   +1 more source

Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report. [PDF]

Medicine (Baltimore)
Ji Z, Zheng H, Yang Y, Li D, Li Z, Guo X.   +5 more
europepmc   +1 more source

Muscle MRI in patients with dysferlinopathy: Pattern recognition and implications for clinical trialP [PDF]

, 2018
et al,, Harms, Matthew, Pestronk, Alan
core   +1 more source

Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation. [PDF]

Cureus
Briceño Moya F, Hernández Hernández AB, Delgado Carmona DK.   +2 more
europepmc   +1 more source