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Page 1
The genetics of spinal muscular atrophies.
Wee CD, Kong L, Sumner CJ. Wee CD, et al. Curr Opin Neurol. 2010 Oct;23(5):450-8. doi: 10.1097/WCO.0b013e32833e1765. Curr Opin Neurol. 2010. PMID: 20733483 Review.
Astrocytes influence the severity of spinal muscular atrophy.
Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD, Sumner CJ, Ko CP, Lorson CL. Rindt H, et al. Hum Mol Genet. 2015 Jul 15;24(14):4094-102. doi: 10.1093/hmg/ddv148. Epub 2015 Apr 24. Hum Mol Genet. 2015. PMID: 25911676 Free PMC article.
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, Marion MH, Hicklin LA, Modarres H, Baple EL, Farah MH, Zuberi AR, Lutz CM, Gaudet R, Traynor BJ, Crosby AH, Sumner CJ. Sullivan JM, et al. J Clin Invest. 2020 Mar 2;130(3):1506-1512. doi: 10.1172/JCI128152. J Clin Invest. 2020. PMID: 32065591 Free PMC article.
Increased IGF-1 in muscle modulates the phenotype of severe SMA mice.
Bosch-Marcé M, Wee CD, Martinez TL, Lipkes CE, Choe DW, Kong L, Van Meerbeke JP, Musarò A, Sumner CJ. Bosch-Marcé M, et al. Hum Mol Genet. 2011 May 1;20(9):1844-53. doi: 10.1093/hmg/ddr067. Epub 2011 Feb 16. Hum Mol Genet. 2011. PMID: 21325354 Free PMC article.
21 results