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Did you mean duchesne r (43 results)?
Duchenne muscular dystrophy.
Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A. Duan D, et al. Nat Rev Dis Primers. 2021 Feb 18;7(1):13. doi: 10.1038/s41572-021-00248-3. Nat Rev Dis Primers. 2021. PMID: 33602943 Free PMC article. Review.
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. ...Recent studies have greatly deepened our understanding of the primary and sec
Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually
Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.
Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Birnkrant DJ, et al. Lancet Neurol. 2018 Apr;17(4):347-361. doi: 10.1016/S1474-4422(18)30025-5. Epub 2018 Feb 3. Lancet Neurol. 2018. PMID: 29395990 Free PMC article. Review.
A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniqu …
A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complicati …
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy.
Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T. Lek A, et al. N Engl J Med. 2023 Sep 28;389(13):1203-1210. doi: 10.1056/NEJMoa2307798. N Engl J Med. 2023. PMID: 37754285
We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with recombinant adeno-associated virus (rAAV) serotype 9 containing dSaCas9 (i.e., "dead" Staphylococcus aureus Cas9, in which the Cas9 nuclease activity has been inactivated) fused to VP64; …
We treated a 27-year-old patient with Duchenne's muscular dystrophy (DMD) with recombinant adeno-associated virus (rAAV) serot …
Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis.
Taglietti V, Kefi K, Bronisz-Budzyńska I, Mirciloglu B, Rodrigues M, Cardone N, Coulpier F, Periou B, Gentil C, Goddard M, Authier FJ, Pietri-Rouxel F, Malfatti E, Lafuste P, Tiret L, Relaix F. Taglietti V, et al. Acta Neuropathol Commun. 2022 Apr 25;10(1):60. doi: 10.1186/s40478-022-01355-2. Acta Neuropathol Commun. 2022. PMID: 35468843 Free PMC article.
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disorder caused by mutations in the Dystrophin gene and for which there is currently no cure. To bridge the gap between preclinical and therapeutic evaluation studies, we have generated a rat model for DMD that ca
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disorder caused by mutations in the Dystrophin gene and for which there i
Muscular Dystrophies.
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ. Carter JC, et al. Clin Chest Med. 2018 Jun;39(2):377-389. doi: 10.1016/j.ccm.2018.01.004. Clin Chest Med. 2018. PMID: 29779596 Review.
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy.
Amoasii L, Hildyard JCW, Li H, Sanchez-Ortiz E, Mireault A, Caballero D, Harron R, Stathopoulou TR, Massey C, Shelton JM, Bassel-Duby R, Piercy RJ, Olson EN. Amoasii L, et al. Science. 2018 Oct 5;362(6410):86-91. doi: 10.1126/science.aau1549. Epub 2018 Aug 30. Science. 2018. PMID: 30166439 Free PMC article.
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational "hotspot" in the human DMD gene. ...
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy …
Diagnosis and management of Becker muscular dystrophy: the French guidelines.
Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group. Magot A, et al. J Neurol. 2023 Oct;270(10):4763-4781. doi: 10.1007/s00415-023-11837-5. Epub 2023 Jul 9. J Neurol. 2023. PMID: 37422773 Free article. Review.
It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. ...
It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and manag …
Dose-Escalation Study of Systemically Delivered rAAVrh74.MHCK7.micro-dystrophin in the mdx Mouse Model of Duchenne Muscular Dystrophy.
Potter RA, Griffin DA, Heller KN, Peterson EL, Clark EK, Mendell JR, Rodino-Klapac LR. Potter RA, et al. Hum Gene Ther. 2021 Apr;32(7-8):375-389. doi: 10.1089/hum.2019.255. Epub 2021 Feb 18. Hum Gene Ther. 2021. PMID: 33397205 Free PMC article. Clinical Trial.
Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by mutations in the DMD gene. ...
Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by mutations in the DMD gene.
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial.
McDonald CM, Shieh PB, Abdel-Hamid HZ, Connolly AM, Ciafaloni E, Wagner KR, Goemans N, Mercuri E, Khan N, Koenig E, Malhotra J, Zhang W, Han B, Mendell JR; the Italian DMD Telethon Registry Study Group, Leuven NMRC Registry Investigators, CINRG Duchenne Natural History Investigators, and PROMOVI Trial Clinical Investigators. McDonald CM, et al. J Neuromuscul Dis. 2021;8(6):989-1001. doi: 10.3233/JND-210643. J Neuromuscul Dis. 2021. PMID: 34120909 Free PMC article. Clinical Trial.
BackgroundEteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to exon 51 skipping, based on demonstrated dystrophin production.ObjectiveTo report results from PROMOVI, a phase 3, multicenter, open-label st …
BackgroundEteplirsen received accelerated FDA approval for treatment of Duchenne muscular dystrophy (DMD) with mutations amenable to …
Next Generation Exon 51 Skipping Antisense Oligonucleotides for Duchenne Muscular Dystrophy.
van Deutekom J, Beekman C, Bijl S, Bosgra S, van den Eijnde R, Franken D, Groenendaal B, Harquouli B, Janson A, Koevoets P, Mulder M, Muilwijk D, Peterburgska G, Querido B, Testerink J, Verheul R, de Visser P, Weij R, Aartsma-Rus A, Puoliväli J, Bragge T, O'Neill C, Datson NA. van Deutekom J, et al. Nucleic Acid Ther. 2023 Jun;33(3):193-208. doi: 10.1089/nat.2022.0063. Epub 2023 Apr 10. Nucleic Acid Ther. 2023. PMID: 37036788 Free PMC article.
In the last two decades, antisense oligonucleotides (AONs) that induce corrective exon skipping have matured as promising therapies aimed at tackling the dystrophin deficiency that underlies the severe and progressive muscle fiber degeneration in Duchenne muscular dystroph …
In the last two decades, antisense oligonucleotides (AONs) that induce corrective exon skipping have matured as promising therapies aimed at …
828 results