Results 1 to 10 of about 106,524 (297)

Duchenne muscular dystrophy [PDF]

Nature Reviews Disease Primers, 2021
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophin) that abolish the production of dystrophin in muscle.
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda   +2 more
exaly   +11 more sources

Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy–Associated Cardiomyopathy [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2015
Background Duchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin‐associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Michelle S. Parvatiyar, Jamie L. Marshall, Reginald T. Nguyen, Maria C. Jordan, Vanitra A. Richardson, Kenneth P. Roos, Rachelle H. Crosbie‐Watson   +6 more
doaj   +2 more sources

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

Science, 2018
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
Amoasii, L, Bassel-Duby, R, Caballero, D, Harron, R, Hildyard, J C W, Li, H, Massey, C A, Mireault, A, Olson, E N, Piercy, R J, Sanchez-Ortiz, E, Shelton, J M, Stathopoulou, T-R   +12 more
core   +3 more sources

Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models [PDF]

Molecular Therapy: Nucleic Acids, 2019
Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy, Richard T. Wang, Christopher Hsu, Emilie D. Douine, Eugene E. Marcantonio, Stanley F. Nelson, M. Carrie Miceli   +6 more
doaj   +3 more sources

Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report [PDF]

Journal of Medical Case Reports
Introduction Duchenne muscular dystrophy and Becker muscular dystrophy are X-linked recessive disorders affecting muscle function, which are caused by mutations in the dystrophin gene (also known as the Duchenne muscular dystrophy gene).
Sarah Gerges, Rania Naoufal, Hicham Mansour   +2 more
doaj   +2 more sources

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy

Nature Medicine, 2020
A. Moretti, LM Fonteyne, F. Giesert, P. Hoppmann, A. Meier, T. Bozoglu, A. Baehr, C. Schneider, D. Sinnecker, K. Klett, T. Fröhlich, F. Rahman, T. Haufe, S. Sun, V. Jurisch, B. Kessler, R. Hinkel, R. Dirschinger, Eimo Martens, C. Jilek, A. Graf, S. Krebs, Gianluca Santamaria, M. Kurome, V. Zakhartchenko, B. Campbell, K. Voelse, A. Wolf, Tilman Ziegler, S. Reichert, Seungmin Lee, F. Flenkenthaler, Tatjana Dorn, I. Jeremias, H. Blum, A. Dendorfer, A. Schnieke, S. Krause, M. Walter, N. Klymiuk, K. Laugwitz, E. Wolf, W. Wurst, W. Wurst, C. Kupatt   +44 more
exaly   +2 more sources

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

Frontiers in Genetics, 2023
Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez, Shirley Nieves-Rodriguez, Florian Barthélémy, Florian Barthélémy, Jeremy D. Woods, Emilie D. Douine, Emilie D. Douine, Richard T. Wang, Richard T. Wang, Deirdre D. Scripture-Adams, Deirdre D. Scripture-Adams, Kevin N. Chesmore, Kevin N. Chesmore, Francesca Galasso, M. Carrie Miceli, M. Carrie Miceli, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson, Stanley F. Nelson   +19 more
doaj   +1 more source

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   +11 more sources

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management

Lancet Neurology, The, 2018
David J Birnkrant, Carla M Bann, Benjamin A Alman   +2 more
exaly   +2 more sources

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