Results 81 to 90 of about 10,028,553 (168)

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

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

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita [PDF]

, 2015
Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1
Licata, Norma, Toscano, Antonio, Norma Licata, IMBRICI, Paola, Simona Portaro, ALTAMURA, CONCETTA, Portaro, Simona, Concetta Altamura, Musumeci, Olimpia, Olimpia Musumeci, DESAPHY, Jean Francois, Paola Imbrici, Diana Conte Camerino, Rodolico, Carmelo, Antonio Toscano, Giulia M. Camerino, Jean-François Desaphy, CAMERINO, GIULIA MARIA, CONTE, Diana, Carmelo Rodolico   +19 more
core   +1 more source

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

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

, 1995
Autosomal dominant myotonia congenita and autoso-mal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane.
Klaus Steinmeyer, Koch, M.C., Jentsch, T.J., Steinmeyer, K., Thomas J. Jentsch, Ricker, K., Kenneth Ricker, Manuela C. Koch, Christof Meyer-kleine, Meyer-Kleine, C.   +9 more
core  

Hereditary canine myotonia: clinical characteristics, electromyography and molecular study in the CLCN1 gene

, 2019
A miotonia hereditária (MH) é uma enfermidade muscular hereditária não distrófica. Manifesta-se pela presença de hipertrofia muscular e miotonia que melhora com o exercício, fenômeno conhecido como “warm-up”.
Rodrigues, Daiane de Jesus
core  

Myotonia congenita in a Labrador Retriever with truncated CLCN1 [PDF]

, 2018
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity.
Pia R. Quitt, Quitt, Pia R., Rosati, Marco, Kaspar Matiasek, Andrea Fischer, Hannes Lohi, Hytönen, Marjo K., Fischer, Andrea, Matiasek, Kaspar, Marco Rosati, Marjo K. Hytönen, Lohi, Hannes   +11 more
core   +1 more source

Toe walking in children with variants in myopathy-associated genes: A retrospective descriptive cohort study

Global Medical Genetics
Background: Tip-toe walking may occur in children carrying variants associated with, neuromuscular disorders, but characteristics of children carrying variants in selected, muscle-related genes remain insufficiently characterized.
David Pomarino, Amel Sidi Athmane, Bastian Fregien, Alexander Nazarkin, Kevin M. Rostásy   +4 more
doaj   +1 more source

A novel mutation in CLCN1 associated with feline myotonia congenita. [PDF]

, 2014
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000.
Melanie D Youngs, O'Brien, Dennis P, Ling T Guo, Boyd R. Jones (106691), Leslie A. Lyons (106603), Guo, Ling T, Boyd R Jones, Barbara Gandolfi (106586), Shelton, G Diane, Gandolfi, Barbara, Daniel, Rob J, Rob J Daniel, G. Diane Shelton (84300), Lyons, Leslie A, Barbara Gandolfi, Rob J. Daniel (652006), Youngs, Melanie D, Jones, Boyd R, G Diane Shelton, Dennis P O'Brien, Dennis P. O'Brien (241639), Stacey B Leach, Melanie D. Youngs (652007), Stacey B. Leach (652008), Leach, Stacey B, Leslie A Lyons, Ling T. Guo (84296)   +26 more
core   +2 more sources