Results 71 to 80 of about 16,852 (152)

Mutations in the J domain of DNAJB6 cause dominant distal myopathy. [PDF]

Neuromuscul Disord, 2020
Palmio J, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B.   +16 more
europepmc   +1 more source

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report. [PDF]

Acta Myol
Gadaleta G, Pidello S, Urbano G, Carli D, Mongini T.   +4 more
europepmc   +1 more source

11 | Human immortalized myoblasts/induced pluripotent stem cell derived skeletal muscle model to investigate cystinosis myopathy

European Journal of Translational Myology
Cystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
doaj  

Decoding the Molecular Grammar of TIA1-Dependent Stress Granules in Proteostasis and Welander Distal Myopathy Under Oxidative Stress. [PDF]

Cells
Alcalde-Rey I, Velasco BR, Alcalde J, Izquierdo JM.   +3 more
europepmc   +1 more source

Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. [PDF]

Acta Myol, 2020
Negrão L, Machado R, Lourenço M, Fernandez-Marmiesse A, Rebelo O.   +4 more
europepmc   +1 more source

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy. [PDF]

Genes (Basel)
Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW.   +5 more
europepmc   +1 more source

Welander distal myopathy-associated TIA1 mutation exacerbates P-body and stress granule dynamics concomitant with nucleolar stress under oxidative stress. [PDF]

Genes Dis
Ramos Velasco B, Alcalde J, Izquierdo JM.   +2 more
europepmc   +1 more source

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T. [PDF]

Cureus
Finsterer J, Barwari A.
europepmc   +1 more source

A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity. [PDF]

J Clin Invest
Buvoli M, Wilson GC, Buvoli A, Gugel JF, Hau A, Bönnemann CG, Paradas C, Ryba DM, Woulfe KC, Walker LA, Buvoli T, Ochala J, Leinwand LA.   +12 more
europepmc   +1 more source

Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination. [PDF]

J Neurol, 2020
Mensch A, Kraya T, Koester F, Müller T, Stoevesandt D, Zierz S.   +5 more
europepmc   +1 more source