Results 181 to 190 of about 57,426 (267)

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution. [PDF]

Sci Rep
Ozisik O, Gorokhova S, Cerino M, Bartoli M, Baudot A.   +4 more
europepmc   +2 more sources

Interpretation of elevated baseline concentrations and serial changes of high-sensitivity cardiac troponin T in confirmed muscular dystrophies. [PDF]

ESC Heart Fail
Yildirim M, Reich C, Salbach C, Pribe-Wolferts R, Milles BR, Täger T, Mueller-Hennessen M, Weiler M, Meder B, Frey N, Giannitsis E.   +10 more
europepmc   +1 more source

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India

Vykuntaraju K. Gowda, Varunvenkat M Srinivasan, Vikas Krishnanada, Sathyakumar Rima, Anita Mahadevan   +4 more
openalex   +1 more source

Genetically modified systems to study muscular dystrophies [PDF]

, 2015
Darko Bosnakovski
openalex  

Correction to: Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies. [PDF]

J Muscle Res Cell Motil
Rajasingham T, Rodriguez HM, Betz A, Sproule DM, Sinha U.   +4 more
europepmc   +1 more source

Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies. [PDF]

Sci Rep
Dong Y, Iammarino M, Liu J, Codling J, Fagert J, Mirshekari M, Lowes L, Zhang P, Noh HY.   +8 more
europepmc   +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