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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ. Landouré G, et al. Among authors: kong l. Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037586 Free PMC article.
The genetics of spinal muscular atrophies.
Wee CD, Kong L, Sumner CJ. Wee CD, et al. Among authors: kong l. Curr Opin Neurol. 2010 Oct;23(5):450-8. doi: 10.1097/WCO.0b013e32833e1765. Curr Opin Neurol. 2010. PMID: 20733483 Review.
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. Among authors: kong l. 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.
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. Among authors: kong l. J Clin Invest. 2020 Mar 2;130(3):1506-1512. doi: 10.1172/JCI128152. J Clin Invest. 2020. PMID: 32065591 Free PMC article.
7,717 results