Results 1 to 10 of about 469,574 (259)

Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy [PDF]

Cell Death and Disease
The degeneration of the muscle in muscle dystrophies involves complex interactions among the different cell types. Here, we have used datasets from single-nuclei RNA sequencing (snRNAseq) of Duchenne Muscular Dystrophy (DMD) muscle samples to study the ...
Esther Fernández-Simón, Ainoa Tejedera-Villafranca, Xiomara Fernández-Garabay, James Clark, Alexandra Monceau, Elisa Villalobos, Dan Cox, Javier Ramón Azcón, Juan M. Fernández-Costa, Jordi Diaz Manera   +9 more
doaj   +2 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +17 more sources

Life Expectancy in Duchenne Muscular Dystrophy

Neurology, 2021
Background and Objectives Duchenne muscular dystrophy (DMD) is a rare progressive disease that is often diagnosed in early childhood and leads to considerably reduced life expectancy; because of its rarity, research literature and patient numbers are ...
J. Broomfield, M. Hill, M. Guglieri, M. Crowther, K. Abrams   +4 more
semanticscholar   +1 more source

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

Communications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves-Rodriguez, Derek W. Wang, Ekaterina I. Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura N. Rabichow, Stanley F. Nelson, M. Carrie Miceli   +12 more
doaj   +1 more source

Muscular Dystrophy [PDF]

Pediatrics In Review, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
  +7 more sources

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

Journal of Nanobiotechnology, 2020
Background The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer’s structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost.
Mingxing Wang, Bo Wu, Jason D. Tucker, Sapana N. Shah, Peijuan Lu, Qilong Lu   +5 more
doaj   +1 more source

Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2020
Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli, J. Sultana, A. Fontana, F. Salvo, S. Messina, G. Trifirò   +5 more
semanticscholar   +1 more source

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Cell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera   +21 more
doaj   +1 more source

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

JAMA Neurology, 2020
This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell, Z. Sahenk, K. Lehman, C. Nease, L. Lowes, N. Miller, M. Iammarino, L. Alfano, A. Nicholl, S. Al-Zaidy, S. Lewis, K. Church, R. Shell, L. Cripe, R. Potter, D. Griffin, E. Pozsgai, A. Dugar, M. Hogan, L. Rodino-Klapac   +19 more
semanticscholar   +1 more source

Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes, 2020
Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions.
Chengmei Sun, Luoan Shen, Zheng Zhang, Xing Xie   +3 more
semanticscholar   +1 more source