Results 81 to 90 of about 805 (150)

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

Assessing the Role of Aquaporin 4 in Skeletal Muscle Function. [PDF]

Int J Mol Sci, 2023
Aslesh T, Al-Aghbari A, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review. [PDF]

Int J Mol Sci
Lejman J, Pytlak M, Danielewicz A, Rutz E, Latalski M, Lejman M.   +5 more
europepmc   +1 more source

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy. [PDF]

Genes (Basel), 2022
Pluta N, Hoffjan S, Zimmer F, Köhler C, Lücke T, Mohr J, Vorgerd M, Nguyen HHP, Atlan D, Wolf B, Zaum AK, Rost S.   +11 more
europepmc   +1 more source

Genetic Deletion of the Purinergic Receptor <i>P2rx7</i> Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy. [PDF]

ACS Pharmacol Transl Sci
Astigiano C, Principi E, Pintus S, Benzi A, Baratto S, Panicucci C, Passalacqua M, Sierra-Marquez J, Nicke A, Antonini F, Del Zotto G, Cicatiello AG, Raffaghello L, Rezzonico Jost T, Grassi F, Bruzzone S, Bruno C, Gazzerro E.   +17 more
europepmc   +1 more source

Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes. [PDF]

Int J Mol Sci
Scano M, Benetollo A, Dalla Barba F, Akyurek EE, Carotti M, Sacchetto R, Sandonà D.   +6 more
europepmc   +1 more source

Misregulation of the Ubiquitin-Proteasome System and Autophagy in Muscular Dystrophies Associated with the Dystrophin-Glycoprotein Complex. [PDF]

Cells
Bozzi M, Sciandra F, Bigotti MG, Brancaccio A.   +3 more
europepmc   +1 more source

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? [PDF]

J Neuromuscul Dis
Faedo E, Tahiri I, Alimi C, Shoaito H, Severa G, Olivier S, Degove S, Richard I, Malfatti E.   +8 more
europepmc   +1 more source

miR-33 inhibition as a novel therapeutic approach for treating muscular dystrophy. [PDF]

EMBO Mol Med
Lopez MA, Alexander MS.
europepmc   +1 more source