Results 131 to 140 of about 466,057 (189)

Pediatric HyperCKemia: a 13-year retrospective study and predictors of neuromuscular disease and metabolic myopathy. [PDF]

Eur J Pediatr
Aires Martins I, Baptista de Lima J, Coelho MP, Bandeira A, Martins E, Correia J.   +5 more
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

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
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

Expanding the phenotypic spectrum of COL6-related diseases: Motor neuropathy-like and neuromyopathy associated with <i>COL6A3</i> c.7447A>G. [PDF]

J Neuromuscul Dis
Villar-Quiles RN, Foley AR, Metay C, Orbach R, Donkervoort S, Labella B, Natera-de Benito D, Nascimento A, Estevez-Arias B, Jimenez-Mallebrera C, Ortez C, Domínguez-González C, Horga A, Marti Carrera MI, Fernandez Torron R, Kurbatov S, Chausova P, Murtazina A, Subbotin D, Kuchina A, Frezzati R, Carvalho A, Waschbisch A, Allamand V, Zou Y, Richard P, Bönnemann CG, Stojkovic T.   +27 more
europepmc   +1 more source

LAMA2 Triple Variant in a Mexican Child with Congenital Muscular Dystrophy. [PDF]

Ann Indian Acad Neurol
Pinto-Escalante D, Fuentes-Olán M, Contreras-Capetillo S, González-Herrera LJ, Rubi-Castellanos R.   +4 more
europepmc   +1 more source

Urinary Proteome Profiling by Several Methods Identifies Titin as the Most-Differentiating Noninvasive Urinary Biomarker of Disease Severity in Becker Muscular Dystrophy. [PDF]

Proteomes
Le KK, Canessa EH, Stahura CM, Mayers J, Edwards KA, Barbieri M, Hoffman EP, Hathout Y.   +7 more
europepmc   +1 more source

Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent. [PDF]

Ann Indian Acad Neurol
Shah SA, Vishnu VY, Sebastian LJD, Garg A.   +3 more
europepmc   +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

An Unbiased Drug Screen in a Drosophila Model of <i>LMNA</i>-Muscular Dystrophy Identifies Calcium Channel Blockers as Potential Treatments. [PDF]

Int J Mol Sci
Mohar NP, Powers BA, Hinz BE, Bock AR, McCoy-Munger H, Darr Z, Shumaker MW, Wemmie AT, Saxena A, Wallrath LL.   +9 more
europepmc   +1 more source