Results 41 to 50 of about 169,015 (342)

In vivo non-invasive monitoring of dystrophin correction in a new Duchenne muscular dystrophy reporter mouse

Nature Communications, 2019
Dystrophin-deficient mice are used to test corrective strategies for Duchenne muscular dystrophy, but evaluation of dystrophin expression requires collection of tissue samples from specific muscles and time points.
Leonela Amoasii, Hui Li, Yu Zhang, Yi-Li Min, Efrain Sanchez-Ortiz, John M. Shelton, Chengzu Long, Alex A. Mireault, Samadrita Bhattacharyya, John R. McAnally, Rhonda Bassel-Duby, Eric N. Olson   +11 more
doaj   +1 more source

iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling

eLife, 2022
Skeletal muscle myoblasts (iMyoblasts) were generated from human induced pluripotent stem cells (iPSCs) using an efficient and reliable transgene-free induction and stem cell selection protocol.
Dongsheng Guo, Katelyn Daman, Jennifer JC Chen, Meng-Jiao Shi, Jing Yan, Zdenka Matijasevic, Amanda M Rickard, Monica H Bennett, Alex Kiselyov, Haowen Zhou, Anne G Bang, Kathryn R Wagner, René Maehr, Oliver D King, Lawrence J Hayward, Charles P Emerson Jr   +15 more
doaj   +1 more source

Abnormality of water homeostasis of Muscular dystrophic chicken [PDF]

, 2014
The muscular dystrophy chicken has been studying as model animal of muscular dystrophy for more than 50 years. Recently, the mutation of WW domain containing E3 ubiquitin protein ligase 1 (WWP1) gene has been identified as a responsible for muscular ...
Saito, Noboru
core  

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis

Health Expectations
Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inadequate symptom ...
Homira Osman, Zainab Adamji, Gerald Pfeffer, Jodi Warman‐Chardon, Pryamvada Varma, Jenna Keindel, Stacey Lintern   +6 more
doaj   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Laurent Servais, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network, M. Scoto, A. Sarkozy, P. Munot, S. Robb, E. Chan, V. Robinson, W. Girshab, V. Crook, E. Milev, L. Abbott, A. Wolfe, E. O’Reilly, J. Watts‐Whent, N. Burnett, R. Thomas, R. Terespolsky, O. Martinaeu, J. Longatto, V. Straub, C. Bettolo, M. Guglieri, J. Diaz‐Manera, G. Tasca, M. Elseed, R. Muni‐Lofra, M. James, D. Moat, J. Sodhi, K. Wong, E. Robinson, E. Groves, R. Rabb, D. Parasuraman, H. McMurchie, H. Chase, Tracey Willis, C. Rylance, N. Birchall, E. Wright, A. Childs, K. Pysden, C. Martos, D. Roberts, L. Pallant, S. Walker, A. Henderson, R. Madhu, R. Karuvattil, Y. Balla, S. Gregson, S. Clark, E. Wraige, H. Jungbluth, V. Gowda, M. Vanegas, J. Sheehan, A. Schofield, C. Smith, I. Hughes, E. Whitehouse, S. Warner, E. Reading, N. Emery, J. Moustoukas, K. Strachan, M. Ong, M. Atherton, N. Mills, S. Sanchez Marco, A. Saxena, K. Skone, J. TeWaterNaude, H. Davis, C. Wood, A. Majumdar, A. Murugan, I. Guarino, R. Tomlinson, H. Jarvis, L. Wills, C. Frimpong, J. Watson, G. Cobb, G. Robertson, P. Brink, J. Burslem, C. Adams, J. Wong, S. Joseph, I. Horrocks, J. Dunne, M. DiMarco, S. Brown, S. McKenzie, K. Torne, R. Mohamed, V. Velmurugan, M. Prasad, S. Sedehizadeh, A. Schugal, R. Keetley, S. Williamson, K. Payne, E. Dowling, P. Fenty, C. de Goede, A. Parkes, K. Baxter, M. Illingworth, N. Bhangu, S. Geary, J. Palmer, K. Shill, S. Tirupathi, A. Shah, D. O’Donogue, J. McVeigh, J. McFetridge, G. Nicfhirleinn, H. Beattie, T. Leyland, K. Stevenson, N. Hussain, D. Baskaran, Z. Lambat, R. Sullivan, L. Locke, G. Ambegaonkar, D. Krishnakumar, J. Taylor, J. Moores, E. Stephen, J. Tewnion, S. Ramdas, M. Sa, A. Skippen, M. Khries, C. Lilien, H. Ramjattan, F. Taylor, H. English, K. Stewart, F. Flint, E. Bartram, R. Noble, Francesco Muntoni   +152 more
wiley   +1 more source

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy

BMC Pediatrics, 2019
Background Adolescents with DMD treated with chronic high dose GC therapy typically have profound pubertal delay. Testosterone, the main circulating androgen in men, promotes virilisation and growth with associated accrual of fat-free muscle mass and ...
C. L. Wood, T. D Cheetham, K. G Hollingsworth, M. Guglieri, Y. Ailins-Sahun, S. Punniyakodi, A. Mayhew, V. Straub   +7 more
doaj   +1 more source

A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]

, 2016
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena, Fernández-Chacón, Rafael, Gómez-Sánchez, Leonardo, Nieto González, José Luis, Rivero, María C, Servián Morilla, Emilia   +5 more
core   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]

, 2015
The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the, De Bleecker, Jan, Doggen, Kris, Roy, Anna J, Van Casteren, Viviane, Van Coster, Rudy, Van Damme, Philip, Van den Bergh, Peter   +7 more
core   +2 more sources