Results 11 to 20 of about 114,439 (345)

Development of the accredited duchenne centers program, a global program to achieve uniform and up-to-date care for all people living with duchenne muscular dystrophy [PDF]

Orphanet Journal of Rare Diseases
The Accredited Duchenne Centers (ADC) Program is a global program initiated by the World Duchenne Organization (WDO). The aim of the ADC Program is to achieve global, uniform and up-to-date care for all people living with Duchenne Muscular Dystrophy (DMD)
Imelda J. M. de Groot, Karolina Podolská, Nathalie Goemans, Suzie-Ann Bakker, Nawel Lalout, Merel Jansen, Elizabeth Vroom   +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

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +3 more sources

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.
D. Duan, N. Goemans, S. Takeda, E. Mercuri, A. Aartsma-Rus   +4 more
semanticscholar   +5 more sources

Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy [PDF]

Molecular Therapy, 2018
D. Duan
semanticscholar   +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   +15 more sources

Duchenne muscular dystrophy: disease mechanism and therapeutic strategies

Frontiers in Physiology, 2023
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy.
Addeli Bez Batti Angulski, Nora Hosny, Houda Cohen, Ashley A. Martin, Dongwoo Hahn, Jack Bauer, J. Metzger   +6 more
semanticscholar   +1 more source

Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1‐Year Interim Results from Study SRP‐9001‐103 (ENDEAVOR)

Annals of Neurology, 2023
Delandistrogene moxeparvovec is approved in the USA for the treatment of ambulatory patients (4–5 years) with Duchenne muscular dystrophy. ENDEAVOR (SRP‐9001‐103; NCT04626674) is a single‐arm, open‐label study to evaluate delandistrogene moxeparvovec ...
C. Zaidman, C. Proud, C. McDonald, K. Lehman, N. Goedeker, Stefanie Mason, Alexander P. Murphy, M. Guridi, Shufang Wang, Carol Reid, E. Darton, C. Wandel, S. Lewis, Jyoti Malhotra, D. Griffin, R. Potter, L. Rodino-Klapac, J. Mendell   +17 more
semanticscholar   +1 more source

Patient-led development of digital endpoints and the use of computer vision analysis in assessment of motor function in rare diseases

Frontiers in Pharmacology, 2022
Digital health technologies are transforming the way health outcomes are captured and measured. Digital biomarkers may provide more objective measurements than traditional approaches as they encompass continuous and longitudinal data collection and use ...
Elisa Ferrer-Mallol, Clare Matthews, Madeline Stoodley, Alessandra Gaeta, Elinor George, Emily Reuben, Alex Johnson, Elin Haf Davies   +7 more
doaj   +1 more source

Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractDuchenne muscular dystrophy (DMD) is a progressive, fatal neuromuscular disorder typically diagnosed between 4 and 5 years of age. DMD currently has five FDA approved therapies, which has led to increased interest in newborn screening (NBS) for DMD.
Niki Armstrong, Rachel Schrader, Ryan Fischer, Norah Crossnohere   +3 more
openaire   +2 more sources