Results 81 to 90 of about 333,621 (210)

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

Studies on muscular dystrophy associated genes [PDF]

, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy

Frontiers in Neurology, 2018
GNE myopathy is characterized by distal muscle weakness, and caused by recessive mutations in GNE. Its onset is characteristically in young adulthood, although a broad spectrum of onset age is known to exist.
Tyler Soule, Cecile Phan, Chris White, Lothar Resch, Atilano Lacson, Kristina Martens, Gerald Pfeffer, Gerald Pfeffer   +7 more
doaj   +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

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy

Journal of Research in Medical Sciences, 2014
Hereditary inclusion body myopathy (hIBM) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. This myopathy is autosomal recessive and associated to UPD-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)
Mahdiyeh Behnam, Shin Jin-Hong, Dae-Seong Kim, Keivan Basiri, Yalda Nilipour, Maryam Sedghi   +5 more
doaj  

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

Subclinical Respiratory Muscle Weakness and Obstructive Sleep Apnea are Common in Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) Myopathy

Annals of Indian Academy of Neurology
Glucosamine-UDP-N-acetyl-2-epimerase / N-acetylmannosamine kinase (GNE) myopathy is a rare, slowly progressive myopathy primarily affecting distal muscles.
Esen Kiyan, Aylin Pihtili, Hacer Durmus, Yesim Parman   +3 more
doaj   +1 more source

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

Case Reports in Gastroenterology, 2016
A 73-year-old male presented with jaundice and severe muscle weakness. He was diagnosed with distal cholangiocarcinoma and paraneoplastic necrotizing autoimmune myopathy (NAM).
Stefan van Dijk, Anneke J. van der Kooi, Eleonora Aronica, Thomas M. van Gulik, Olivier R. Busch, Marc G. Besselink   +5 more
doaj   +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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source