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Practical Considerations for Delandistrogene Moxeparvovec Gene Therapy in Patients With Duchenne Muscular Dystrophy.
Mendell JR, Proud C, Zaidman CM, Mason S, Darton E, Wang S, Wandel C, Murphy AP, Mercuri E, Muntoni F, McDonald CM. Mendell JR, et al. Pediatr Neurol. 2024 Apr;153:11-18. doi: 10.1016/j.pediatrneurol.2024.01.003. Epub 2024 Jan 5. Pediatr Neurol. 2024. PMID: 38306745 Free article.
BACKGROUND: Delandistrogene moxeparvovec is a gene transfer therapy approved in the United States, United Arab Emirates, and Qatar for the treatment of ambulatory patients aged four through five years with a confirmed Duchenne muscular dystrophy (DMD)-causing mutation in t …
BACKGROUND: Delandistrogene moxeparvovec is a gene transfer therapy approved in the United States, United Arab Emirates, and Qatar for the t …
CISD3/MiNT is required for complex I function, mitochondrial integrity, and skeletal muscle maintenance.
Nechushtai R, Rowland L, Karmi O, Marjault HB, Nguyen TT, Mittal S, Ahmed RS, Grant D, Manrique-Acevedo C, Morcos F, Onuchic JN, Mittler R. Nechushtai R, et al. Proc Natl Acad Sci U S A. 2024 May 28;121(22):e2405123121. doi: 10.1073/pnas.2405123121. Epub 2024 May 23. Proc Natl Acad Sci U S A. 2024. PMID: 38781208 Free PMC article.
Here, we show that CISD3 deficiency in mice results in muscle atrophy that shares proteomic features with Duchenne muscular dystrophy. We further reveal that CISD3 deficiency impairs the function and structure of skeletal muscles, as well as their mitochondria, and that CI …
Here, we show that CISD3 deficiency in mice results in muscle atrophy that shares proteomic features with Duchenne muscular dystrophy …
Corticosteroids in Duchenne muscular dystrophy: a reappraisal.
Wong BL, Christopher C. Wong BL, et al. J Child Neurol. 2002 Mar;17(3):183-90. doi: 10.1177/088307380201700306. J Child Neurol. 2002. PMID: 12026233 Review.
Duchenne muscular dystrophy is the most common and most severe form of childhood muscular dystrophies, resulting in early loss of ambulation between the ages of 7 and 13 years and death in the teens and twenties. ...Of all of the therapeutic drugs studied in Duchenne
Duchenne muscular dystrophy is the most common and most severe form of childhood muscular dystrophies, resulting in early loss of amb
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
Dogba MJ, Rauch F, Douglas E, Bedos C. Dogba MJ, et al. Health Qual Life Outcomes. 2014 Oct 25;12:151. doi: 10.1186/s12955-014-0151-y. Health Qual Life Outcomes. 2014. PMID: 25649344 Free PMC article. Review.
Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. ...This literature review aims to classify, summarize and compare these non-medical impacts of acho …
Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting …
Model organisms in the fight against muscular dystrophy: lessons from drosophila and Zebrafish.
Plantié E, Migocka-Patrzałek M, Daczewska M, Jagla K. Plantié E, et al. Molecules. 2015 Apr 9;20(4):6237-53. doi: 10.3390/molecules20046237. Molecules. 2015. PMID: 25859781 Free PMC article. Review.
More than 30 types of MD have been described so far; those most thoroughly studied are Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1) and congenital MDs. Structurally, physiologically and biochemically, MDs affect different types of muscles and cause in …
More than 30 types of MD have been described so far; those most thoroughly studied are Duchenne muscular dystrophy (DMD), myotonic dy …
Left ventricular noncompaction in Duchenne muscular dystrophy.
Statile CJ, Taylor MD, Mazur W, Cripe LH, King E, Pratt J, Benson DW, Hor KN. Statile CJ, et al. J Cardiovasc Magn Reson. 2013 Aug 1;15(1):67. doi: 10.1186/1532-429X-15-67. J Cardiovasc Magn Reson. 2013. PMID: 23914774 Free PMC article.
The objective of this study is to define the prevalence of LVNC in the Duchenne Muscular Dystrophy (DMD) population and characterize its relationship to global LV function. ...
The objective of this study is to define the prevalence of LVNC in the Duchenne Muscular Dystrophy (DMD) population and characterize …
Acute microtubule changes linked to DMD pathology are insufficient to impair contractile function or enhance contraction-induced injury in healthy muscle.
Vanegas C, Ursitti J, Kallenbach JG, Pinto K, Harriot A, Coleman AK, Shi G, Ward CW. Vanegas C, et al. bioRxiv [Preprint]. 2024 Jun 23:2024.06.19.599775. doi: 10.1101/2024.06.19.599775. bioRxiv. 2024. PMID: 38948772 Free PMC article. Preprint.
Duchenne muscular dystrophy (DMD) is marked by the genetic deficiency of the dystrophin protein in striated muscle whose consequence is a cascade of cellular changes that predispose the susceptibility to contraction injury central to DMD pathology. ...
Duchenne muscular dystrophy (DMD) is marked by the genetic deficiency of the dystrophin protein in striated muscle whose consequence
Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale.
Bugnitz CJ, Cripe LH, Lo WD, Flanigan KM. Bugnitz CJ, et al. Pediatr Neurol. 2016 Oct;63:76-79. doi: 10.1016/j.pediatrneurol.2016.05.013. Epub 2016 Jun 8. Pediatr Neurol. 2016. PMID: 27595520
BACKGROUND: Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy pati …
BACKGROUND: Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes …
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