Results 31 to 40 of about 75,574 (228)

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

Duchenne muscular dystrophy [PDF]

Biochemical Society Transactions, 1984
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
openaire   +4 more sources

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source

Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy [PDF]

Clin Case Rep
ABSTRACT A five‐year‐old boy with clinical features of Duchenne muscular dystrophy was found to have a rare de novo DMD exon 2–9 duplication. Reporting such atypical duplications improves genotype–phenotype interpretation and highlights the need for multidisciplinary care, particularly in resource‐limited settings.
Assaf N, El Hajj J, Doghman J, Hussein F, Khalifeh S.   +4 more
europepmc   +2 more sources

Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes, 2020
Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions.
Chengmei Sun, Luoan Shen, Zheng Zhang, Xing Xie   +3 more
semanticscholar   +1 more source

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

Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report

Journal of Medical Case Reports, 2011
Introduction Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare.
Kaur Jasmeet, Sharma Sanjeevan, Sharma Ajay, Das Satyaranjan, Nair Velu, Mishra DK   +5 more
doaj   +1 more source

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

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

SAGE Open Medicine, 2019
Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need.
Jennifer G Andrews, Shree Pandya, Christina Trout, Treeva Jaff, Dennis Matthews, Christopher Cunniff, F John Meaney   +6 more
doaj   +1 more source