Results 81 to 90 of about 31,854 (258)

Myotonic Dystrophy Initially Presenting as Tachycardiomyopathy Successful Catheter Ablation of Atrial Flutter

Cardiology Research and Practice, 2010
Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias.
S. Asbach, K. J. Gutleben, P. Dahlem, J. Brachmann, G. Nölker   +4 more
doaj   +1 more source

MYOTONIC DYSTROPHY [PDF]

Neuromuscular Disorders, 2021
J. Allen, G. Ramdharry, R. Astin, C. Turner, C. Smith   +4 more
openaire   +3 more sources

Simple Mathematical Model Of Pathologic Microsatellite Expansions: When Self-Reparation Does Not Work

, 2007
We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos, Angers, Barton, Bell, Boris Veytsman, Brinkmann, Brock, Brunner, Calabrese, Calabrese, Cleary, de Gennes, Di Rienzo, Ellegren, Ellegren, FitzSimmons, Garza, Goldstein, Gomes-Pereira, Harper, Harr, Huang, Kayser, Kruglyak, Kruglyak, Lai, Lai, Lai, Leila Akhmadeyeva, Libby, Makova, Mirkin, Monckton, Nielsen, Painter, Pearson, Pearson, Piñeiro, Primmer, Primmer, Schlötterer, Shinde, Shriver, Sibly, Sibly, Tachida, Whittaker, Xu, Yang   +48 more
core   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

A trigger-happy soldier with bilateral ptosis and dysphagia

Biomedical Journal, 2015
Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj   +1 more source

Weighted cart pull: A novel outcome measure for sustained motor function in mice

Experimental Physiology, EarlyView.
Abstract Sarcopenia, the pathological age‐related decline in muscle mass and strength, compromises independence and quality of life in older adults. Currently, no effective treatments are available. To enhance translational research using aged mouse models, we developed and validated the weighted cart pull (WCP) as a novel assessment of sustained motor
Charles D. Brennan, Nathan R. Kerr, Jose A. Viteri, Zachary Williard, Harper Snyder, Gabriella Meier, Sam Cairns, Fereshteh B. Darvishi, Anna R. Dashtmian, Peter J. Moore, Sindhuja N. Ayyagari, Meifang Wang, W. David Arnold   +12 more
wiley   +1 more source

Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity. [PDF]

, 2013
International audienceMyotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene.
Kim, Yun Kyoung, Mahadevan, Mani S, Mandal, Mahua, Paillard, Luc, Yadava, Ramesh S   +4 more
core   +4 more sources

Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 3, June 2025.
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium   +58 more
wiley   +1 more source

Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy [PDF]

, 2015
International audienceMyotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats.
Allamand, Valérie, Arandel, Ludovic, Athanasopoulos, Takis, Delalande, Olivier, Dickson, George, Dingli, Florent, Ferry, Arnaud, Furling, Denis, Jollet, Arnaud, Kabashi, Edor, Koo, Taeyoung, Lainé, Jeanne, Le Rumeur, Elisabeth, Lee, Kuang-Yung, Loew, Damarys, Lorain, Stéphanie, Marie, Joëlle, Peccate, Cécile, Ramanoudjame, Laetitita, Rau, Frédérique, Swanson, Maurice S   +20 more
core   +3 more sources

Alpha‐Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle

Neuropathology and Applied Neurobiology, Volume 51, Issue 3, June 2025.
We examined alpha‐synuclein in muscle and serum samples of patients with IBM and other neuromuscular disorders. With the use of immunohistochemistry, we identify alpha‐synuclein muscular reactivity as a complementary diagnostic marker. Serum alpha‐synuclein levels measured by ELISA were not generally altered in IBM but correlated with disease duration ...
Tobias Mayer, Leila Scholle, Laura Foerster, Ilka Schneider, Gisela Stoltenburg‐Didinger, Karl‐Stefan Delank, Thomas Kendzierski, Anna Koelsch, Kathleen Kleeberg, Torsten Kraya, Lorenzo Barba, Steffen Naegel, Anne Schänzer, Markus Otto, Alexander Mensch   +14 more
wiley   +1 more source