Results 141 to 150 of about 17,793 (220)

Oculopharyngeal and distal myopathy: A case study from papua new guinea

, 1984
Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external
Mastaglia, F.L., Scrimgeour, E.M.
core  

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

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  

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

Distal myopathy with upper limb predominance caused by **filamin C** haploinsufficiency

, 2011
: Objective: In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance.
Suls, Arvid, Baets, Jonathan, Ceuterick-de Groote, Chantal, De Jonghe, Peter, Timmerman, Vincent, Jordanova, Albena, Peeters, Kristien, Guergueltcheva, V., et al., Martin, Jean-Jacques   +9 more
core  

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

Welander distal myopathy : gene mapping and analysis of candidate genes

, 2004
Distal myopathies constitute of a very heterogeneous group of muscular disorders. Distal myopathies have previously been classified according to features such as; clinical symptoms, age of onset and histopathological changes.
Désirée von Tell (19491598)
core  

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