Results 41 to 50 of about 71,356 (167)

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Journal of Cachexia, Sarcopenia and Muscle, 2020
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are characterized by muscle wasting leading to loss of ambulation in the first or third decade, respectively.
D. Capitanio, M. Moriggi, E. Torretta, P. Barbacini, S. De Palma, A. Viganò, H. Lochmüller, F. Muntoni, A. Ferlini, M. Mora, C. Gelfi   +10 more
semanticscholar   +1 more source

Induced Pluripotent Stem Cells for Duchenne Muscular Dystrophy Modeling and Therapy

Cells, 2018
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, caused by mutation of the DMD gene which encodes the protein dystrophin. This dystrophin defect leads to the progressive degeneration of skeletal and cardiac muscles.
Lubos Danisovic, Martina Culenova, Maria Csobonyeiova   +2 more
doaj   +1 more source

A qualitative study on the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy

Journal of Patient-Reported Outcomes, 2021
Background Duchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory ...
Kate Williams, Ian Davidson, Mark Rance, Katharina Buesch, Sarah Acaster   +4 more
doaj   +1 more source

X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy

Pharmaceuticals, 2015
X-linked dilated cardiomyopathy (XLDCM) is a distinct phenotype of dystrophinopathy characterized by preferential cardiac involvement without any overt skeletal myopathy.
Akinori Nakamura
doaj   +1 more source

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study

Annals of Clinical and Translational Neurology, 2020
The novel morpholino antisense oligonucleotide viltolarsen targets exon 53 of the dystrophin gene, and could be an effective treatment for patients with Duchenne muscular dystrophy (DMD).
H. Komaki, Y. Takeshima, T. Matsumura, S. Ozasa, M. Funato, E. Takeshita, Y. Iwata, Hiroyuki Yajima, Y. Egawa, Takuya Toramoto, Masaya Tajima, S. Takeda   +11 more
semanticscholar   +1 more source

Performance of Upper Limb module for Duchenne muscular dystrophy

Developmental Medicine & Child Neurology, 2020
To report the differences between Performance of Upper Limb (PUL) versions 1.2 and 2.0, compare the measurement ability of the two versions, and compare their longitudinal performance in Duchenne muscular dystrophy.
A. Mayhew, G. Coratti, E. Mazzone, K. Klingels, M. James, M. Pane, V. Straub, N. Goemans, E. Mercuri   +8 more
semanticscholar   +1 more source

Eteplirsen in the treatment of Duchenne muscular dystrophy

Drug Design, Development and Therapy, 2017
Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500–5,000 male births that is characterized by progressive muscular deterioration.
K. Lim, R. Maruyama, T. Yokota
semanticscholar   +1 more source

Safety, feasibility, and efficacy of strengthening exercise in Duchenne muscular dystrophy

Muscle and Nerve, 2020
This two‐part study explored the safety, feasibility, and efficacy of a mild–moderate resistance isometric leg exercise program in ambulatory boys with Duchenne muscular dystrophy (DMD).
D. Lott, T. Taivassalo, K. Cooke, Hyunju Park, Zahra Moslemi, A. Batra, S. Forbes, B. Byrne, G. Walter, K. Vandenborne   +9 more
semanticscholar   +1 more source

Duchenne muscular dystrophy: current cell therapies

Therapeutic Advances in Neurological Disorders, 2015
Duchenne muscular dystrophy is a genetically determined X-linked disease and the most common, progressive pediatric muscle disorder. For decades, research has been conducted to find an effective therapy.
Dorota Sienkiewicz, Wojciech Kulak, Bożena Okurowska-Zawada, Grażyna Paszko-Patej, Katarzyna Kawnik   +4 more
doaj   +1 more source

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy.
Abdallah Fayssoil, Nicolas Mansencal, Lee S. Nguyen, Olivier Nardi, Rabah Ben Yaou, France Leturcq, Helge Amthor, Karim Wahbi, Henri Marc Becane, Frederic Lofaso, Helene Prigent, Guillaume Bassez, Anthony Behin, Tanya Stojkovic, Bertrand Fontaine, Denis Duboc, Olivier Dubourg, Bernard Clair, Pascal Laforet, Djillali Annane, David Orlikowski   +20 more
doaj   +1 more source