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Page 1
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.
Klymiuk N, Blutke A, Graf A, Krause S, Burkhardt K, Wuensch A, Krebs S, Kessler B, Zakhartchenko V, Kurome M, Kemter E, Nagashima H, Schoser B, Herbach N, Blum H, Wanke R, Aartsma-Rus A, Thirion C, Lochmüller H, Walter MC, Wolf E. Klymiuk N, et al. Hum Mol Genet. 2013 Nov 1;22(21):4368-82. doi: 10.1093/hmg/ddt287. Epub 2013 Jun 19. Hum Mol Genet. 2013. PMID: 23784375
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
de Brouwer AP, Nabuurs SB, Verhaart IE, Oudakker AR, Hordijk R, Yntema HG, Hordijk-Hos JM, Voesenek K, de Vries BB, van Essen T, Chen W, Hu H, Chelly J, den Dunnen JT, Kalscheuer VM, Aartsma-Rus AM, Hamel BC, van Bokhoven H, Kleefstra T. de Brouwer AP, et al. Eur J Hum Genet. 2014 Apr;22(4):480-5. doi: 10.1038/ejhg.2013.169. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900271 Free PMC article.
Fibronectin is a serum biomarker for Duchenne muscular dystrophy.
Cynthia Martin F, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmüller H, Niks EH, Verschuuren JJ, Aartsma-Rus A, Deelder AM, van der Burgt YE, 't Hoen PA. Cynthia Martin F, et al. Proteomics Clin Appl. 2014 Apr;8(3-4):269-78. doi: 10.1002/prca.201300072. Epub 2014 Mar 11. Proteomics Clin Appl. 2014. PMID: 24458521
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Ayoglu B, Chaouch A, Lochmüller H, Politano L, Bertini E, Spitali P, Hiller M, Niks EH, Gualandi F, Pontén F, Bushby K, Aartsma-Rus A, Schwartz E, Le Priol Y, Straub V, Uhlén M, Cirak S, 't Hoen PA, Muntoni F, Ferlini A, Schwenk JM, Nilsson P, Al-Khalili Szigyarto C. Ayoglu B, et al. EMBO Mol Med. 2014 Jul;6(7):918-36. doi: 10.15252/emmm.201303724. EMBO Mol Med. 2014. PMID: 24920607 Free PMC article.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project; Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group. Bello L, et al. Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745838 Free PMC article.
Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.
Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P. Lourbakos A, et al. Sci Rep. 2017 Dec 20;7(1):17888. doi: 10.1038/s41598-017-17982-y. Sci Rep. 2017. PMID: 29263366 Free PMC article.
Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.
Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A. Spitali P, et al. J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16. J Cachexia Sarcopenia Muscle. 2018. PMID: 29682908 Free PMC article.
259 results