Results 81 to 90 of about 4,206 (207)
OXPHOS complex deficiency in congenital myopathy: A systematic review
European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez +4 more
wiley +1 more source
Archives of pathology & laboratory medicine, 1978 Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire +3 more sources
Nemaline Myopathy: Respiratory Failure
Pediatric Neurology Briefs, 1991 A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
doaj +1 more source
Physiological Reports, Volume 13, Issue 21, November 2025.Abstract Cerebral palsy (CP) often presents with increased passive stiffness of the skeletal muscles, primarily due to increased collagen in the extracellular matrix. Collagenase from Clostridium histolyticum (CCH), an enzyme that degrades collagen, is used clinically to treat fibrotic conditions such as Dupuytren's contracture and Peyronie's disease ...
Faizan Syed +5 more
wiley +1 more source
Revista Médica Clínica Las Condes, 2018 : Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
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Identification and characterization of tropomyosin 3 associated with granulin-epithelin precursor in human hepatocellular carcinoma [PDF]
, 2012 Background and Aim: Granulin-epithelin precursor (GEP) has previously been reported to control cancer growth, invasion, chemo-resistance, and served as novel therapeutic target for cancer treatment.
Cheng, CKC +10 more
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The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng +2 more
wiley +1 more source
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy
Disease Models & Mechanisms, 2015 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian +7 more
doaj +1 more source
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review [PDF]
, 2016 FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers.
Aldeeri +7 more
core +1 more source
Optogenetic methods to stimulate gamma motor neuron axons ex vivo
Experimental Physiology, Volume 110, Issue 10, Page 1531-1541, October 1, 2025.Abstract It is challenging to stimulate gamma motor neurons, which are important regulators of muscle spindle afferent function, without also recruiting alpha motor neurons. Here, we test the feasibility of stimulating gamma motor neuron axons using optogenetics in two transgenic mouse lines. We used an ex vivo muscle–nerve preparation in adult mice to
Apoorva Karekal +7 more
wiley +1 more source