Results 121 to 130 of about 7,593 (207)

GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice [PDF]

, 2015

core   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies. [PDF]

Mol Biol Rep
Ahmad R, Hashmi MA, Ullah A, Rehman UU, Naeem M, Houlden H.   +5 more
europepmc   +1 more source

Sleep Disordered Breathing and Its Predictors in Pediatric Muscular Dystrophies. [PDF]

J Clin Med
Abu Zahra M, Arens R, Essibayi MA, Patel N.   +3 more
europepmc   +1 more source

Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy. [PDF]

Hum Genomics
Tlili A, Al Mutery A.
europepmc   +1 more source

Genetic and Clinical Spectrum of Limb-Girdle Muscular Dystrophies in Western Sicily. [PDF]

Genes (Basel)
Rini N, Lupica A, Alonge P, Crescimanno G, Pignolo A, Messina C, Santa Paola S, Giuliano M, Borgione E, Lo Giudice M, Scuderi C, Di Stefano V, Brighina F.   +12 more
europepmc   +1 more source

Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D [PDF]

, 2019
Bengoechea, Rocio, Chou, Tsui-Fen, Findlay, Andrew R., Pittman, Sara K., True, Heather L., Weihl, Conrad C.   +5 more
core   +1 more source

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice [PDF]

Ackroyd, M R, Ashraf, A, Booler, H, Brown, S C, Fernandez-Fuente, M, Imperial College London, Kavishwar, M, Kim, J, Lacey, E, Muntoni, F, Parr, C, Terry, R, UCL, Wells, D J, Wells, K E, Whitmore, C   +15 more
core   +1 more source

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience [PDF]

, 2015
France Leturcq, Rabah Ben Yaou
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