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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: sumner cj. 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.
Jaw drop in Kennedy's disease.
Sumner CJ, Fischbeck KH. Sumner CJ, et al. Neurology. 2002 Nov 12;59(9):1471-2. doi: 10.1212/01.wnl.0000033325.01878.13. Neurology. 2002. PMID: 12427914 No abstract available.
The role of histone acetylation in SMN gene expression.
Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ. Kernochan LE, et al. Among authors: sumner cj. Hum Mol Genet. 2005 May 1;14(9):1171-82. doi: 10.1093/hmg/ddi130. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772088
Targeting splicing in spinal muscular atrophy.
Burnett BG, Sumner CJ. Burnett BG, et al. Among authors: sumner cj. Ann Neurol. 2008 Jan;63(1):3-6. doi: 10.1002/ana.21305. Ann Neurol. 2008. PMID: 18232015 No abstract available.
Regulation of SMN protein stability.
Burnett BG, Muñoz E, Tandon A, Kwon DY, Sumner CJ, Fischbeck KH. Burnett BG, et al. Among authors: sumner cj. Mol Cell Biol. 2009 Mar;29(5):1107-15. doi: 10.1128/MCB.01262-08. Epub 2008 Dec 22. Mol Cell Biol. 2009. PMID: 19103745 Free PMC article.
Emerging treatment options for spinal muscular atrophy.
Burnett BG, Crawford TO, Sumner CJ. Burnett BG, et al. Among authors: sumner cj. Curr Treat Options Neurol. 2009 Mar;11(2):90-101. doi: 10.1007/s11940-009-0012-x. Curr Treat Options Neurol. 2009. PMID: 19210911
141 results