Results 101 to 110 of about 54,841 (223)

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of Human Genetics, 2016
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease. The genetic diagnosis is not easily made because of the large size of the dystrophin gene, complex mutational spectrum and high number of tests ...
M. Okubo, N. Minami, K. Goto, Y. Goto, S. Noguchi, S. Mitsuhashi, I. Nishino   +6 more
semanticscholar   +1 more source

Assessment of Weighted Gene Co-Expression Network Analysis to Explore Key Pathways and Novel Biomarkers in Muscular Dystrophy

Pharmacogenomics and Personalized Medicine, 2021
Xiaoxue Xu,1 Yuehan Hao,1 Jiao Wu,2 Jing Zhao,1 Shuang Xiong3 1Department of Neurology, The First Hospital of China Medical University, Shenyang, People’s Republic of China; 2Department of Neurology, The People’s Hospital of Liaoning Province,
Xu X, Hao Y, Wu J, Zhao J, Xiong S
doaj  

Efficacy and safety of Viltepso® in Duchenne muscular dystrophy: review of clinical studies

Русский журнал детской неврологии
The author presents a literature review on the safety and efficacy of antisense oligonucleotides in the treatment of Duchenne muscular dystrophy using the exon skipping method using Viltepso® (viltolarsen), the only drug of this class registered in ...
V. M. Suslov, D. I. Rudenko
doaj   +1 more source

Molecular Diagnosis of Duchenne/Becker muscular dystrophy in a family with no pathological antecedents of the disease

Medisur, 2018
Foundation: Duchenne and  Becker muscular dystrophies are progressive neuromuscular diseases with a pattern of recessive inherited link to chromosome X and caused by mutations in the gene which codifies for dystrophin.
Ivonne Martín Hernández, Alejandro Ariosa Olea, Mariesky Zayas Guillot, Tatiana Zaldívar Vaillant, Celia Rosa Soto Pérez-Stable   +4 more
doaj  

Becker′s Muscular Dystrophy-A Case Report

Annals of Indian Academy of Neurology, 1998
A case of Becker′s Muscular dystrophy (BMD) in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres.
Rajendran P, Manivannan R, Rajarathinam A, Aleem M.A   +3 more
doaj  

Molecular Diagnosis of Duchenne/Becker Muscular Dystrophy: Analysis of Exons Deletion and Carrier Detection [PDF]

Cell Journal, 2010
Objective: Duchenne and Becker Muscular Dystrophy (DMD and BMD) are X-linked conditionsresulting from a defect in the dystrophin gene located at Xp21.2. DMD is the mostfrequent neuromuscular disease in humans (1/3500 male newborns).
Mohammad Taghi Akbari, Shohreh Zare Karizi, Shahryar Nafisi, Gholamreza Zamani   +3 more
doaj  

Becker muscular dystrophy [PDF]

, 2020
openaire   +1 more source

Electrocardiographic Changes in Jordanian Patients With Becker Muscular Dystrophy. [PDF]

Cureus, 2023
Al-Raqad MK, Alwahsh S, Hejazi IS, Abu-Salah OT, Alshadfan L, Abu-Ledeh A, Ghanem N, Braik L, Raggad AD.   +8 more
europepmc   +1 more source

Early myocardial damage assessment in dystrophinopathies using 99Tcm-MIBI gated myocardial perfusion imaging

Therapeutics and Clinical Risk Management, 2015
Li Zhang,1,* Zhe Liu,2,* Ke-You Hu,3 Qing-Bao Tian,3 Ling-Ge Wei,4 Zhe Zhao,5 Hong-Rui Shen,5 Jing Hu5 1Department of Cardiovascular Disorders, 2Department of Geriatrics, The Third Hospital of Hebei Medical University, 3The Public Health Department ...
Zhang L, Liu Z, Hu KY, Tian QB, Wei LG, Zhao Z, Shen HR, Hu J   +7 more
doaj  

Tissue Rings PLOD Out a Second Hit in Becker Muscular Dystrophy. [PDF]

JACC Basic Transl Sci, 2023
Lee BW, Margulies KB.
europepmc   +1 more source