Results 21 to 30 of about 66,813 (317)
Frontiers in Genetics, 2023 Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature of Duchenne muscular dystrophy (DMD) with more proximal muscles affected earlier and more distal affected later in the disease course, suggesting that different ...
Shirley Nieves-Rodriguez +19 more
doaj +1 more source
Nucleic acid nanostructure for delivery of CRISPR/Cas9‐based gene editing system
Interdisciplinary Medicine, Volume 1, Issue 1, January 2023., 2023 Multifunctional nucleic acid nanostructures, including RCA‐derived DNA, branched DNA, and hybrid DNA, have been developed for delivery of CRISPR/Cas9‐based gene editing system for gene therapy. Abstract CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/CRISPR‐associated protein 9)‐based gene editing system has aroused great ...
Wantao Tang, Jianbing Liu, Baoquan Ding
wiley +1 more source
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific Reports, 2021 Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop +10 more
doaj +1 more source
Frontiers in Psychology, 2023 IntroductionHuman cooperativeness is an important personality trait. However, the mechanism through which people cooperate remains unclear. Previous research suggests that one of the proposed functions of smiling is to advertise altruistic dispositions ...
Xiaoqi Deng +3 more
doaj +1 more source
Gait Event Detection and Travel Distance Using Waist-Worn Accelerometers across a Range of Speeds: Automated Approach [PDF]
Sensors. 2024; 24(4):1155, 2023 Estimation of temporospatial clinical features of gait (CFs), such as step count and length, step duration, step frequency, gait speed, and distance traveled, is an important component of community-based mobility evaluation using wearable accelerometers.
arxiv +1 more source
Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis
Orphanet Journal of Rare Diseases, 2020 Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by mutations in the dystrophin gene. A recent systematic review and meta-analysis of global DMD epidemiology is not available.
S. Crisafulli +5 more
semanticscholar +1 more source
JOR SPINE, Volume 5, Issue 4, December 2022., 2022 This study indicates an association of abnormal HIF‐2α expression in paraspinal myoblasts and a disproportionate slow twitch muscle fiber content in the convexity of the curvature in a sub‐set of AIS subjects, suggesting HIF‐2α dysregulation as a possible risk factor for AIS. The role of HIF‐2α in paraspinal muscle function during spinal growth and its
Wai Kit Tam +5 more
wiley +1 more source
JAMA Neurology, 2020 This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell +19 more
semanticscholar +1 more source
Muscle and Nerve, 2021 Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a phosphorodiamidate morpholino oligomer designed to bypass frameshift DMD mutations and produce internally truncated, yet ...
K. Wagner +6 more
semanticscholar +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 This manuscript summarizes a case of biallelic dystrophin (DMD) variants in a mildly affected female patient and additionally highlights the phenotypic spectrum of one of the patient's two DMD variants, a deletion of exons 49–51. This deletion previously had few reports in the published literature, despite its frequency within our institution's ...
Elizabeth A. Ulm +3 more
wiley +1 more source