Cardiomyopathy in Muscular Dystrophy: When to Treat?
Sign Up to like & getrecommendations! Published in 2017 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2016.4910
Abstract: Duchenne muscular dystrophy (DMD) is a rare, X-linked condition with progressive muscle weakness and accompanying cardiomyopathy. Cardiovascular magnetic resonance (CMR) has proved particularly useful for monitoring the earliest signs of cardiac involvement in DMD, including… read more here.
Keywords: dmd; fibrosis; cardiology; muscular dystrophy ... See more keywords
A unified model for Duchenne muscular dystrophy gene involvement in cancer: context-dependent tumour suppression and oncogenicity.
Sign Up to like & getrecommendations! Published in 2025 at "FEBS open bio"
DOI: 10.1002/2211-5463.70109
Abstract: Evidence implicates the Duchenne muscular dystrophy gene (DMD) in tumorigenesis, but survival trends are inconsistent. To resolve this, we conducted a comprehensive global analysis of DMD expression and survival outcomes across 33 tumour types using… read more here.
Keywords: duchenne muscular; cancer; dmd; muscular dystrophy ... See more keywords
A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1932
Abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the DMD gene of a proband, potential carriers can be… read more here.
Keywords: germline mosaicism; dmd; risk; mosaicism ... See more keywords
Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.622
Abstract: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X‐linked recessive mode of inheritance. Patients with DMD are usually characterized by… read more here.
Keywords: dmd; muscular dystrophy; dystrophy; application whole ... See more keywords
Pharmacotherapy of Duchenne Muscular Dystrophy.
Sign Up to like & getrecommendations! Published in 2019 at "Handbook of experimental pharmacology"
DOI: 10.1007/164_2019_256
Abstract: Drug development and pharmacotherapy of rare pediatric diseases have significantly expanded over the last decade, in part due to incentives and financial support provided by governments, regulators, and nonprofit foundations. Duchenne muscular dystrophy (DMD) is… read more here.
Keywords: dmd; muscular dystrophy; duchenne muscular; pharmacotherapy duchenne ... See more keywords
Systemic Injection of Peptide-PMOs into Humanized DMD Mice and Evaluation by RT-PCR and ELISA.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_16
Abstract: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder due to the lack of dystrophin production. The disease is characterized by muscle wasting, with the most common causes of death being respiratory failure or heart… read more here.
Keywords: dmd; injection peptide; pcr; humanized dmd ... See more keywords
Quantitative Evaluation of Exon Skipping in Immortalized Muscle Cells In Vitro.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8651-4_7
Abstract: Exon skipping through the use of antisense oligonucleotides (AOs) is currently one of the most promising approaches for treating Duchenne muscular dystrophy (DMD). While we now have a number of AO drug candidates in clinical… read more here.
Keywords: dmd; muscle cells; exon; exon skipping ... See more keywords
Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment
Sign Up to like & getrecommendations! Published in 2017 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-017-0036-3
Abstract: BackgroundNewborn screening for Duchenne muscular dystrophy (DMD) is currently being initiated in Zhejiang Province, China and is under consideration in other countries, including the United States. As China begins to implement DMD newborn screening (DMD-NBS),… read more here.
Keywords: dmd; muscular dystrophy; screening duchenne; china ... See more keywords
Golodirsen: First Approval
Sign Up to like & getrecommendations! Published in 2020 at "Drugs"
DOI: 10.1007/s40265-020-01267-2
Abstract: Golodirsen (Vyondys 53 ™ ), an antisense oligonucleotide of the phophorodiamidate morpholino oligomer (PMO) subclass designed to induce exon 53 skipping, has been developed by Sarepta Therapeutics for the treatment of Duchenne muscular dystrophy (DMD).… read more here.
Keywords: dmd; first approval; treatment; golodirsen ... See more keywords
Bone quality in Duchenne muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-022-01784-9
Abstract: Duchenne muscular dystrophy (DMD)-related osteoporosis is of increasing interest due to the extended life expectancy of DMD patients. Although considerable knowledge is available about the pathogenesis of bone fragility in DMD, new clinical and biochemical… read more here.
Keywords: dmd; bone; muscular dystrophy; fracture ... See more keywords
Analysis of PIV measurements using modal decomposition techniques, POD and DMD, to study flow structures and their dynamics within a stirred-tank reactor
Sign Up to like & getrecommendations! Published in 2018 at "Chemical Engineering Science"
DOI: 10.1016/j.ces.2017.12.047
Abstract: Abstract The present work is a comparative analysis of Proper Orthogonal Decomposition (POD) and Dynamic Mode Decomposition (DMD) computed on experimental turbulent velocity fields measured in a 20L-tank stirred by two Rushton impellers at two… read more here.
Keywords: dmd; analysis; flow structures; pod dmd ... See more keywords