Results 61 to 70 of about 207 (93)

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

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

Cell Mol Life Sci
Łoboda A, Dulak J.
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

From calcium pump to metabolic hub: emerging genetic phenotypes and metabolic networks of SERCA2 in skeletal muscle. [PDF]

Front Physiol
Lei S, Qu Y, Yan J, Nan F, Liu S, Pan W, Yu C.   +6 more
europepmc   +1 more source

A rare homozygous <i>CAPN3</i> variant with distinct clinical features in unrelated families of Iraqi Jewish descent. [PDF]

J Neuromuscul Dis
Assia Batzir N, Orenstein N, Yaron Y, Kuzminsky A, Nevo Y, Konen O, Bazak L, Lidzbarsky G, Basel-Salmon L, Aharoni S.   +9 more
europepmc   +1 more source

Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels. [PDF]

Mol Syndromol
Sarıkaya Uzan G, Yılmaz Uzman C, Çinleti T, Günay Ç, Ülgenalp A, Hız Kurul S, Yiş U.   +6 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source