Results 91 to 100 of about 2,733 (194)

Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7 [PDF]

, 2016
BackgroundThe reduced cost and improved efficiency of whole genome sequencing (WGS) is drastically improving the development of cats as biomedical models.
Alhaddad, Hasan, Beale, Holly, Creighton, Erica, Gandolfi, Barbara, Grahn, Robert, Helps, Christopher, Lyons, Leslie, Maggs, David, Rah, HyungChul   +8 more
core   +3 more sources

A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog

Journal of Veterinary Internal Medicine, 2007
Background:Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise.
Daniel F, Finnigan, W J Brad, Hanna, Roberto, Poma, Andrew J, Bendall   +3 more
openaire   +2 more sources

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG, Jin-fu LIN, Cheng ZHANG, Xin-jing ZHONG, Xue-ling CHEN, Jing LI, Yu-ling ZHU   +6 more
doaj  

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

Frontiers in Neurology, 2020
Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's ...
Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy   +10 more
doaj   +1 more source

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]

, 2014
Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Acevedo-Arozena, Abraham, Amato, Anthony A., Amior, Neta, Bentley, Liz, Blanco, Gonzalo, Brown, Steve D. M., Carter, Sarah, Corrochano, Silvia, Cortese, Andrea, Cox, Roger, Dick, James, Fratta, Pietro, Greensmith, Linda, Hanna, Michael G., Healy, Estelle G., Hutchinson, Marie, Joyce, Peter I., Koltzenburg, Martin, Lassi, Glenda, Liavas, Andrianos, Lionikas, Arimantas, McGoldrick, Philip, Männikkö, Roope, Quinn, Colin, Raja Rayan, Dipa L., Stewart, Michelle, Tucci, Valter, Wackerhage, Henning, Wettstein, Jessica   +28 more
core   +2 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

Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine [PDF]

, 2017
Asparagine is conserved in the S6 transmembrane segments of all voltage-gated sodium, calcium, and TRP channels identified to date. A broad spectrum of channelopathies including cardiac arrhythmias, epilepsy, muscle diseases, and pain disorders is ...
A Abdul-Gader, A Kreusch, A Lampert, AJ Miles, Alexandra B. Klinger, AM Powl, AM Powl, Andrew J. Miles, Andrias O. O’Reilly, Angelika Lampert, Anja Lattrell, AO O’Reilly, B Chanda, B Chanda, B Hille, B Nilius, B. A. Wallace, C Nau, C Nau, Carla Nau, D Ren, EC McCusker, F Lehmann-Horn, F Lehmann-Horn, FH Yu, G Cota, G Nurani, GK Wang, H Itoh, HM Berman, J Payandeh, J Payandeh, JG Lees, JM Gulbis, JW West, K Kwong, L Whitmore, L Whitmore, LE Browne, M Liao, MM McNulty, N Guex, N Sreerama, NB Cronin, NB Cronin, O Pongs, P Imbrici, PL Sheets, S Lee, SB Long, SB Long, SN Wright, T Hoshi, T Sugawara, T Zimmer, V Yarov-Yarovoy, V Yarov-Yarovoy, X Zhang, Y Chen, Y Zhao, YF Xiao   +60 more
core   +1 more source

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.
Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann   +28 more
wiley   +1 more source

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target

BioEssays, Volume 47, Issue 3, March 2025.
Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré, J. Andrew Berglund, Elise Duchesne, Nicolas A. Dumont   +3 more
wiley   +1 more source