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SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.
Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM, McDonald CM; Cooperative International Neuromuscular Research Group. Pegoraro E, et al. Neurology. 2011 Jan 18;76(3):219-26. doi: 10.1212/WNL.0b013e318207afeb. Epub 2010 Dec 22. Neurology. 2011. PMID: 21178099 Free PMC article.
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, Nakagawa M, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A. Prust M, et al. Neurology. 2011 Sep 27;77(13):1287-94. doi: 10.1212/WNL.0b013e3182309f72. Epub 2011 Sep 14. Neurology. 2011. PMID: 21917775 Free PMC article.
SLC30A8 nonsynonymous variant is associated with recovery following exercise and skeletal muscle size and strength.
Sprouse C, Gordish-Dressman H, Orkunoglu-Suer EF, Lipof JS, Moeckel-Cole S, Patel RR, Adham K, Larkin JS, Hubal MJ, Kearns AK, Clarkson PM, Thompson PD, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Hoffman EP, Tosi LL, Devaney JM. Sprouse C, et al. Diabetes. 2014 Jan;63(1):363-8. doi: 10.2337/db13-1150. Epub 2013 Oct 7. Diabetes. 2014. PMID: 24101675
ACTN3 and MLCK genotype associations with exertional muscle damage.
Clarkson PM, Hoffman EP, Zambraski E, Gordish-Dressman H, Kearns A, Hubal M, Harmon B, Devaney JM. Clarkson PM, et al. J Appl Physiol (1985). 2005 Aug;99(2):564-9. doi: 10.1152/japplphysiol.00130.2005. Epub 2005 Apr 7. J Appl Physiol (1985). 2005. PMID: 15817725 Free article. Clinical Trial.
183 results