Results 81 to 90 of about 314,455 (204)

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report

BMJ Neurology Open
Background Variants in the vaccinia-related kinase 1 (VRK1) gene have been linked to a spectrum of lower motor neuron disorders, typically characterised by distal muscle weakness and atrophy.
Roger Pamphlett, Matthew Silsby, Siobhan Kean, Himath Siriniwasa, Macken James Laurence Stirling   +4 more
doaj   +1 more source

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

BMC Medical Genetics, 2011
Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 more
doaj   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Comminuted fractures of the proximal phalanx in horses: A multicentre retrospective review

Equine Veterinary Education, EarlyView.
Summary Background Comminuted fractures of the proximal phalanx (CFPP), defined as the presence of three or more major fracture fragments, present difficult management challenges. Feedback from practitioners and long‐term follow‐up can be helpful to reassess evidence‐based treatment strategies and improve clinical outcomes.
C. de Chaisemartin, M. Farfan, B. Dal Cero, A. Martens, F. Rossignol, A. Kalinovskiy, C. Lischer, C. Tessier, S. Grulke, G. Manneveau, V. Gouzer, G. Gomez, J. Samsel, C. Mespoulhes‐Riviere, F. Pichereau, L. Alfonso Gracia Calvo, M. Trécu, A. Spadaro Rossello, P. Planes, X. Peyrecave, C. Mansuy, C. Henry‐Perin, A. Guezennec, M. C. Schramme   +23 more
wiley   +1 more source

Anaesthetic management of a horse with acute kidney injury

Equine Veterinary Education, EarlyView.
Summary Anaesthetic management of animals with acute kidney injuries (AKI) is complex and poses considerable risk. There are no publications describing management of anaesthetised horses with AKI. Perioperative and anaesthetic care of a Thoroughbred filly presented with traumatic injuries and subsequent AKI is described.
C. T. Quinn, K. J. Hughes, A. N. Walton
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

Adiponectin in Myopathies [PDF]

, 2019
In skeletal muscle, adiponectin has varied and pleiotropic functions, ranging from metabolic, anti-inflammatory, insulin-sensitizing to regenerative roles.
Magherini, Francesca, Tania Gamberi, Francesca Magherini, Gamberi, Tania, Tania Fiaschi, Fiaschi, Tania   +5 more
core   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, Volume 110, Issue 5, Page 584-589, November 2026.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Hereditary myosin myopathies

, 2007
Hereditary myosin myopathies have emerged as a new group of muscle diseases with highly variable clinical features and onset during fetal development, childhood or adulthood. They are caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes.
Oldfors, Anders,
core   +1 more source