Results 131 to 140 of about 333,621 (210)

Distal Myopathy and Kyphoscoliosis Associated with a Kyphoscoliosis Peptidase Gene Mutation: A Rare Case. [PDF]

Ann Indian Acad Neurol
Yeşildaş PY, Özenç B.
europepmc   +1 more source

Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy. [PDF]

J Neuromuscul Dis
Llansó L, Reyes-Leiva D, Segarra-Casas A, Xuclà-Ferrarons T, Gallardo E, Blanco R, Gallano P, Olivé M, González-Quereda L.   +8 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  

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions. [PDF]

Biology (Basel)
Ramos-Velasco B, Alcalde J, Izquierdo JM.   +2 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

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

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

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

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

Cureus
Finsterer J, Barwari A.
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