Results 81 to 90 of about 258 (116)

Novel mutations in the SGCA gene in unrelated Vietnamese patients with limb-girdle muscular dystrophies disease. [PDF]

Front Genet, 2023
Chung Tran N, Lien NTK, Ta TD, Nguyen VH, Tran HT, Van Tung N, Xuan NT, Huy Hoang N, Tran VK.   +8 more
europepmc   +1 more source

Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review. [PDF]

J Neuromuscul Dis, 2022
Audhya IF, Cheung A, Szabo SM, Flint E, Weihl CC, Gooch KL.   +5 more
europepmc   +1 more source

Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" []. [PDF]

Postep Psychiatr Neurol
Radziwonik-Frączyk W, Sułek A, Elert-Dobkowska E.   +2 more
europepmc   +1 more source

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy. [PDF]

Acta Myol, 2022
Diella E, LoMauro A, Delle Fave M, Cima R, D'Angelo MG.   +4 more
europepmc   +1 more source

Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]

Int J Mol Sci
Akyürek EE, Erba M, Dalla Barba F, Sandonà D, Sacchetto R.   +4 more
europepmc   +1 more source

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy. [PDF]

Postep Psychiatr Neurol
Radziwonik-Frączyk W, Elert-Dobkowska E, Kubalska J, Stępniak I, Lipowska M, Potulska-Chromik A, Sułek A.   +6 more
europepmc   +1 more source

Progress on cell therapy for skeletal muscle disorders. [PDF]

Adv Drug Deliv Rev
Azzag K, Perlingeiro RCR.
europepmc   +1 more source

Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A. [PDF]

Front Genet
Feng W, Cao Y, Ren R, Yang X, Cao C, Jiang H, Du G.   +6 more
europepmc   +1 more source

Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI. [PDF]

J Clin Med
Schlaffke L, Rehmann R, Güttsches AK, Vorgerd M, Meyer-Frießem CH, Dinse HR, Enax-Krumova E, Froeling M, Forsting J.   +8 more
europepmc   +1 more source

Cell therapy for Duchenne muscular dystrophy: promises, challenges, and controversies. [PDF]

Cell Mol Life Sci
Łoboda A, Dulak J.
europepmc   +1 more source