Results 21 to 30 of about 2,668 (97)

Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C

Stem Cell Research, 2020
Duchenne muscular dystrophy (DMD) is a severe and rapidly progressive hereditary muscular disease with X-linked recessive inheritance, occurring mainly in males.
K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian   +8 more
doaj   +1 more source

Symptoms and impacts of ambulatory nonsense mutation Duchenne muscular dystrophy: a qualitative study and the development of a patient-centred conceptual model

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, Axel Boehnke, Katharina Buesch, Sarah Acaster   +5 more
doaj   +1 more source

Distrofias musculares en el paciente adulto

Revista Médica Clínica Las Condes, 2018
RESUMEN: Las distrofias musculares son un grupo de trastornos hereditarios, degenerativos, progresivos del músculo estriado, cuya manifestación cardinal es la debilidad de la musculatura estriada esquelética.
Nicholas Earle, MD, Jorge A. Bevilacqua, MD, PhD   +1 more
doaj   +1 more source

Nanotherapy for Duchenne muscular dystrophy

WIREs Nanomedicine and Nanobiotechnology, 2017
Duchenne muscular dystrophy (DMD) is a lethal X‐linked childhood muscle wasting disease caused by mutations in the dystrophin gene. Nanobiotechnology‐based therapies (such as synthetic nanoparticles and naturally existing viral and nonviral nanoparticles) hold great promise to replace and repair the mutated dystrophin gene and significantly change the ...
Michael E, Nance, Chady H, Hakim, N Nora, Yang, Dongsheng, Duan   +3 more
openaire   +3 more sources

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

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

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

Noninvasive ventilatory support to reverse weight loss in Duchenne muscular dystrophy: A case series

Pulmonology, 2019
This case series of five patients with Duchenne muscular dystrophy demonstrates the nutritional advantages of instituting noninvasive intermittent positive pressure ventilatory support via 15 mm angled mouthpieces to relieve tachypnea and provide more ...
P. Deo, J.R. Bach
doaj   +1 more source

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (São Paulo)
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa   +3 more
doaj   +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