Results 61 to 70 of about 4,206 (207)
Stem Cell Research, 2022 Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres.
Isabella S. Suleski +12 more
doaj +1 more source
Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers [PDF]
, 2015 Aims: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be ...
Bang, Marie-Louise +12 more
core +2 more sources
Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source
Pediatric Neurology Briefs, 1994 A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source
Smart Medicine, Volume 5, Issue 1, February 2026.An atomic view of the NFIX–DNA complex reveals recognition of the TGGCA motif and links sequence‐specific binding to the transcriptional programs governing skeletal muscle development and disease. ABSTRACT Skeletal muscle is essential for voluntary movement and exhibits a remarkable capacity for regeneration following injury.
Ci Zhu +11 more
wiley +1 more source
Clinical Case Reports, 2021 Monoclonal gammopathy of undetermined significance (MGUS) may be associated with pathologies with severe neuromuscular manifestations such as sporadic late‐onset nemaline myopathy (SLONM).
Tânia Maia +4 more
doaj +1 more source
Tissue Triage and Freezing for Models of Skeletal Muscle Disease [PDF]
, 2014 Skeletal muscle is a unique tissue because of its structure and function, which requires specific protocols for tissue collection to obtain optimal results from functional, cellular, molecular, and pathological evaluations.
Beggs, Alan H. +11 more
core +2 more sources
The Diverse Neuromuscular Spectrum of VPS13A Disease
Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger +16 more
wiley +1 more source
In Vivo Function of the Chaperonin TRiC in α-Actin Folding during Sarcomere Assembly
Cell Reports, 2018 Summary: The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner.
Joachim Berger +7 more
doaj +1 more source