Results 61 to 70 of about 4,991 (181)
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2018 RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy.
Lindsay M. Wallace +10 more
doaj +1 more source
Cell Transplantation, 2020 A study was recently published that sought to develop an in vivo model of facioscapulohumeral muscular dystrophy by transplanting muscle precursor cells from a patient into immunodeficient mice.
Daniel Skuk, Jacques P Tremblay
doaj +1 more source
A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]
Journal of Pediatric Neurology, 2017 AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Jean K, Mah, Yi-Wen, Chen
openaire +2 more sources
Clinical and Translational Science, Volume 19, Issue 6, June 2026.ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern +4 more
wiley +1 more source
The relative frequency of common neuromuscular diagnoses in a reference center
Arquivos de Neuro-PsiquiatriaThe diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta +12 more
doaj +1 more source
Experimental Physiology, Volume 111, Issue 6, Page 3039-3054, 1 June 2026.Abstract This study investigated whether performing a translatable murine model of concurrent training after tumour induction affects adaptations in juvenile male and female tumour‐bearing mice. Male and female Balb/c mice were injected bilaterally with colon‐26 adenocarcinoma (C26) cells or PBS at 8 weeks of age.
Stavroula Tsitkanou +10 more
wiley +1 more source
Physiological Reports, Volume 14, Issue 12, June 2026.3D muscle culture reproduces the metabolic characteristics associated with the myostatin knockout phenotype. Abstract 3D cell culture, using a variety of bioengineering techniques, enables muscle cells to be cultured in more structural and functional biomimetic conditions than 2D cell culture.
Barbara Vernus +8 more
wiley +1 more source
Advanced Healthcare Materials, Volume 15, Issue 17, 8 May 2026.This work pioneers melt electrowriting (MEW) of polyethylene vinyl acetate (PEVA) to fabricate ultra‐compliant, high‐resolution scaffolds. By integrating microscale precision with soft tissue‐like biomechanics, PEVA overcomes stiffness‐driven limitations of conventional MEW polymers, establishing a mechanically biomimetic platform for soft tissue ...
Finn Snow +9 more
wiley +1 more source
Diagnostic challenges in facioscapulohumeral muscular dystrophy [PDF]
, 2006 The diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be difficult due to its clinical variability and complex genetic cause. We present three challenging cases: one misdiagnosis of FSHD, one patient with FSHD resembling mitochondrial ...
FIGARELLA D +7 more
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