Results 51 to 60 of about 207 (93)

Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods. [PDF]

J Neuromuscul Dis
Bardakov SN, Sorochanu I, Mkrtchyan LA, Slesarenko YS, Tsargush VA, Limaev IS, Isaev AA, Yakovlev IA, Deev RV.   +8 more
europepmc   +1 more source

Recurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity. [PDF]

Int J Mol Sci
D'Este G, Giorgetti A, Cassandrini D, Magri F, Ronchi D, Rubegni A, Lopergolo D, Malandrini A, Merlini L, Vattemi G, Tonin P, Barresi R.   +11 more
europepmc   +1 more source

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

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

Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related. [PDF]

Int J Mol Sci, 2021
Rico A, Guembelzu G, Palomo V, Martínez A, Aiastui A, Casas-Fraile L, Valls A, López de Munain A, Sáenz A.   +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

Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications. [PDF]

Am J Case Rep
Maya-González C, Díaz De Ståhl T, Wessman S, Taylan F, Tesi B, Lagerstedt-Robinson K, Tettamanti G, Dukic M, Poluha A, Ljungman G, Nordgren A.   +10 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

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

Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity. [PDF]

Genes (Basel), 2023
Prykhozhij SV, Caceres L, Ban K, Cordeiro-Santanach A, Nagaraju K, Hoffman EP, Berman JN.   +6 more
europepmc   +1 more source