Results 41 to 50 of about 1,189 (168)
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene.
YU Jia‑xi +5 more
doaj +1 more source
Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice. [PDF]
PLoS ONE, 2012 Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans.
Mitutoshi Ito +7 more
doaj +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
doaj
Unravelling inclusion body myositis using a patient‐derived fibroblast model
Journal of Cachexia, Sarcopenia and Muscle, 2023 Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology.
Judith Cantó‐Santos +18 more
doaj +1 more source
A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG +7 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 1996 Estudamos 16 casos entre 1400 biópsias musculares que apresentavam vacúolos marginados, cujo aspecto histológico sugeria corpos de inclusão citoplasmáticos. Procuramos correlacionar os dados clínicos, laboratoriais e histopatológicos, a fim de determinar
Rosana Herminia Scola +2 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Thymidine kinase 2 deficiency (TK2d) is an ultra‐rare autosomal recessive mitochondrial myopathy with variable presentations, including late‐onset forms beginning after age 12. Unlike early‐onset disease, the natural history of late‐onset TK2d remains poorly defined.
Paloma Martín‐Jimenez +16 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami +2 more
wiley +1 more source
PLoS ONE, 2014 Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle ...
Mark Screen +6 more
doaj +1 more source
MyomiRs Expression in Limb Girdle Muscular Dystrophy
IUBMB Life, Volume 77, Issue 10, October 2025.ABSTRACT This manuscript is a comprehensive review focused on the role of microRNAs (miRs)—short RNA molecules—in Limb Girdle Muscular Dystrophy (LGMD). LGMD encompasses various and heterogeneous rare genetic neuromuscular diseases, characterized by the progressive wasting and deterioration of muscle fibers, predominantly affecting the pelvic and ...
G. Breveglieri +7 more
wiley +1 more source