Results 91 to 100 of about 2,671 (159)

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 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

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

Inflammation-Linked Muscle Atrophy in Limb Girdle Muscular Dystrophy R1 (LGMDR1): Insights into Disease Mechanisms. [PDF]

Curr Issues Mol Biol
Banerjee S, Radotra BD, Luthra-Guptasarma M, Goyal MK.   +3 more
europepmc   +1 more source

Age, muscle, and gender specific characterization of muscle degeneration in a mouse model of calpainopathy. [PDF]

Sci Rep
Südkamp N, Heinen-Weiler J, Rohm M, Zaik M, Daya N, Güttsches AK, Theiss C, Roos A, Ruck T, Jacobsen F, Schlaffke L, Vorgerd M.   +11 more
europepmc   +1 more source

The MAD2L1-FOXM1 axis negatively regulates CD4⁺ T cell and macrophages infiltration in lung adenocarcinoma. [PDF]

Discov Oncol
Saini C, Vats P, Baweja B, Nema R.
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

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

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods. [PDF]

Sci Rep
Molaei N, Alagha P, Khanbazi A, Beheshtian M, Ahangari F, Dehdahsi S, Fadaee M, Ashki M, Ghaderi Z, Elahi Z, Vazehan R, Parsimehr E, Nouri MM, Saei P, Noudehi K, Fatehi F, Najafabadi SZ, Abolhassani A, Afroozan F, Yazdan H, Kelishomi MA, Azad M, Parvini F, Kassaee SM, Ramezani M, Zemorshidi F, Salimipour H, Abdi S, Bakhshandeh M, Fayyazi A, Zamani G, Ashrafi MR, Jamali P, Sarraf P, Okhovat AA, Ashtiani BH, Fatehi F, Karimzadeh P, Nafissi S, Kahrizi K, Kariminejad A, Najmabadi H.   +41 more
europepmc   +1 more source

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