Results 61 to 70 of about 114,439 (345)

Gene Therapy for Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, 2021
Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1 in 5000 males. Affected individuals become wheelchair bound by the age of twelve and eventually die in their third decade due to respiratory and cardiac complications.
Nertiyan Elangkovan, George Dickson
semanticscholar   +1 more source

Faut-il avoir peur de l’Allemagne? Représentations belges de la réunification allemande à travers 'Le Soir' et 'De Standaard'

Cahiers du MIMMOC, 2012
Cet article revisite deux grands titres de la presse quotidienne belge, à savoir De Standaard et Le Soir, pour découvrir les perceptions qui entourèrent les événements qui se sont succédés entre l’été 1989 et l’automne 1990.
Geneviève Duchenne
doaj   +1 more source

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

, 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.
Barthélémy, Florian, Douine, Emilie D, Hsu, Christopher, Marcantonio, Eugene E, Miceli, M Carrie, Nelson, Stanley F, Wang, Richard T   +6 more
core   +1 more source

Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype. [PDF]

, 2016
In the degenerative disease Duchenne muscular dystrophy, inflammatory cells enter muscles in response to repetitive muscle damage. Immune factors are required for muscle regeneration, but chronic inflammation creates a profibrotic milieu that exacerbates
Barton, Elisabeth R, Capote, Joana, Kramerova, Irina, Martinez, Leonel, Miceli, M Carrie, Spencer, Melissa J, Sweeney, H Lee, Vetrone, Sylvia   +7 more
core   +2 more sources

Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping

JAMA Neurology, 2020
Key Points Question What are the safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping?
P. Clemens, V. Rao, A. Connolly, A. Harper, J. Mah, E. Smith, C. McDonald, C. Zaidman, L. Morgenroth, H. Osaki, Y. Satou, T. Yamashita, E. Hoffman   +12 more
semanticscholar   +1 more source

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

International Journal of Neonatal Screening, 2018
Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson   +9 more
doaj   +1 more source

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]

, 2013
IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted, Barth, Jay, Eagle, Michelle, Elfring, Gary, Florence, Julaine M, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik K, McDonald, Craig M, Peltz, Stuart, PTC124-GD-007-DMD Study Group, Reha, Allen, Spiegel, Robert   +12 more
core   +2 more sources

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +1 more source

Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]

, 2018
Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O, Cho, H-Y, Dickson, G, Kim, D, Kim, E, Kim, J-S, Koo, T, Lu-Nguyen, N B, Malerba, A, Popplewell, L   +9 more
core   +2 more sources

Enhanced CRISPR-Cas9 correction of Duchenne muscular dystrophy in mice by a self-complementary AAV delivery system

Science Advances, 2020
Self-complementary AAV-packaged CRISPR-Cas9 genome editing components rescue Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disease caused by mutations in the dystrophin gene (DMD).
Yu Zhang, Hui Li, Yi-Li Min, E. Sánchez-Ortiz, Jian Huang, A. Mireault, J. Shelton, Jiwoong Kim, P. Mammen, R. Bassel-Duby, E. Olson   +10 more
semanticscholar   +1 more source