Results 91 to 100 of about 12,116 (229)

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

Ultrasound-Guided Femoral and Sciatic Nerve Blocks for Repair of Tibia and Fibula Fractures in a Bennett's Wallaby (Macropus rufogriseus) [PDF]

, 2016
Locoregional anesthetic techniques may be a very useful tool for the anesthetic management of wallabies with injuries of the pelvic limbs and may help to prevent capture myopathies resulting from stress and systemic opioids’ administration.
Adami, C, Campoy, L, Monticelli, P
core   +5 more sources

Bone health in adults with non‐ambulatory neuromuscular disorders: scoping review of risk factors, diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Background Non‐ambulatory adults have an increased risk of osteoporosis and fractures due to reduced weight‐bearing and diminished neuromuscular stimulation, resulting in substantial morbidity and mortality. Aims This scoping review aimed to systematically evaluate risk factors, diagnostic indicators and management strategies for optimising ...
Thomas Bailey, Carolyn Droste, John A. Eisman, Steven G. Faux, Arnagretta Hunter   +4 more
wiley   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

The mitochondrial‐targeted antioxidant SkQ1 prevents skeletal muscle mitochondrial‐apoptotic but not necroptotic signalling during ovarian cancer

The Journal of Physiology, EarlyView.
Abstract figure legend An evaluation of the degree to which mitochondrial hydrogen peroxide emission (mH2O2)‐mediated apoptotic and necroptotic signalling contributes to skeletal muscle atrophy in an orthotopic epithelial ovarian cancer (EOC) model. To determine whether attenuating mH2O2 could prevent regulated cell death signalling and mitigate muscle
Shahrzad Khajehzadehshoushtar, Luca J. Delfinis, Fasih A. Rahman, Madison C. Garibotti, Shivam Gandhi, Aditya N. Brahmbhatt, Brooke A. Morris, Bianca Garlisi, Sylvia Lauks, Caroline Aitken, Leslie Ogilvie, Zhu‐Xu Zhang, Jeremy A. Simpson, Joe Quadrilatero, Jim Petrik, Christopher G. R. Perry   +15 more
wiley   +1 more source

Biological properties of α-actinin-2 and its role and mechanisms in disease development

Frontiers in Physiology
α-Actinin-2 (encoded by the ACTN2 gene) is a critical cytoskeletal protein predominantly expressed in skeletal and cardiac muscle, where it anchors actin filaments to the sarcomeric Z-disk. While its structural role is well-established, emerging evidence
Juan Meng, Shu-qiong Xu, Qi Deng, Ling-ling Jiang, Dan-Ping Huang, Qing-song Wang, Yong-Kang Wu, Yong-Kang Wu   +7 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

PACS2 Alleviates Sepsis‐Induced Myopathy by Activating ERK–MAPK Signalling Pathway to Suppress ER‐Phagy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, -Not available-.
ABSTRACT Background Sepsis‐induced myopathy (SIM) is a common and life‐threatening complication, but its underlying mechanisms remain poorly understood. PACS2, a key resident protein at mitochondria‐associated endoplasmic reticulum membranes (MAMs), regulates ER homeostasis under various pathological conditions.
Xuexin Li, Zu‐an Shi, Fei He, Guo Mu, Feixiang Wang, Bowen Sun, Xiaobin Wang, Li Liu   +7 more
wiley   +1 more source

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard, Bertini, Enrico, Brockington, Martin, Brown, Susan, Bushby, Kate, D'Amico, Adele, Feng, Lucy, Jungbluth, Heinz, Kinali, Maria, Manzur, Adnan, Messina, Sonia, Muntoni, Francesco, Müller, Clemens R., Quinlivan, Ros, Robb, Stephanie, Roper, Helen, Rose, Michael R., Sewry, Caroline A., Straub, Volker, Swash, Michael, Treves, Susan, Zhou, Haiyan   +21 more
core  

Detection of Diagnostic Antibodies in Immune‐Mediated Diseases: A Focus on Antigens and Technologies

ChemBioChem, Volume 27, Issue 9, 14 May 2026.
This review explores autoantibody detection in immune‐mediated diseases, highlighting autoantigens including post‐translational modifications. We compared enzyme‐linked immunosorbent assay and indirect immunofluorescence with automated chemiluminescence platforms.
Silvia Bracci, Feliciana Real‐Fernandez, Federico Pratesi, Francesca Nuti, Paolo Rovero, Anna Maria Papini   +5 more
wiley   +1 more source