Results 71 to 80 of about 7,609 (214)

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

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

Table_1_The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.DOCX

, 2018
Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application.Methods: We retrospectively ...
Henry Houlden (110428), Sachit Shah (5449565), Mary M. Reilly (3129600), Emma Matthews (5449559), Enrico Bugiardini (500749), Alan M. Pitmann (5449562), Jasper M. Morrow (445706), Tarek A. Yousry (482524), Michael G. Hanna (445710), Claire L. Wood (5449568), David S. Lynch (237727), Volker Straub (251869), Matt Parton (5449571)   +12 more
core   +1 more source

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

COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report

BMC Neurology, 2019
Background Collagen VI-related myopathies are a spectrum of muscular diseases with features of muscle weakness and atrophy, multiple contractures of joints, distal hyperextensibility, severe respiratory dysfunction and cutaneous alterations, attributable
Mengxin Bao, Fei Mao, Zhangning Zhao, Gaoting Ma, Guangjun Xu, Wenjuan Xu, Huan Chen, Meijia Zhu   +7 more
doaj   +1 more source

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +1 more source

Mutation update: the spectra of nebulin variants and associated myopathies

, 2014
A mutation update on the nebulin gene (NEB) is necessary because of recent developments in analysis methodology, the identification of increasing numbers and novel types of variants, and a widening in the spectrum of clinical and histological phenotypes ...
Marttila, Minttu, den Dunnen, Johan T., Winder, Thomas L., Barth, Peter G., Beggs, Alan H., Pelin, Katarina, Wallgren-Pettersson, Carina, North, Kathryn N., Saunders, Carol, Clarke, Nigel F., Laing, Nigel G., Kiiski, Kirsi, Sandaradura, Sarah A., Repo, Pauliina, Frey, Jennifer A., Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Romero, Norma B., Donner, Kati   +18 more
core   +1 more source

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy [PDF]

, 2017
Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6,
Penttila, Sini, Udd, Bjarne, De Bleecker, Jan, Vilchez, Juan J., Salort-Campana, Emmanuelle, Lehtinen, Sara, Palmio, Johanna, Savarese, Marco, Evila, Anni, Vihola, Anna, Tasca, Giorgio, Jonson, Per Harald, Olive, Montse, Pouget, Jean, Hackman, Peter, Rainer, Peter, Muelas, Nuria, Auer-Grumbach, Michaela   +17 more
core   +1 more source

The 2025 ATS/ERS update of the international multidisciplinary classification of the interstitial pneumonias: implications for the pathologist

Histopathology, EarlyView.
This review highlights changes relevant to pathologists in the updated multidisciplinary classification of interstitial pneumonias. Changes include expansion beyond idiopathic disease, subclassification as interstitial (fibrotic vs non‐fibrotic) and alveolar filling disorders, expansion to include additional patterns (e.g.
Andrew G Nicholson, Wendy A. Cooper, Aurelie Fabre, William Travis, Lida P. Hariri, Ayodeji Adegunsoye, Sara Piciucchi, Christopher J Ryerson   +7 more
wiley   +1 more source

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