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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. Zimoń M, et al. Among authors: sumner cj. Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11. Brain. 2010. PMID: 20460441 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
Distal spinal and bulbar muscular atrophy caused by dynactin mutation.
Puls I, Oh SJ, Sumner CJ, Wallace KE, Floeter MK, Mann EA, Kennedy WR, Wendelschafer-Crabb G, Vortmeyer A, Powers R, Finnegan K, Holzbaur EL, Fischbeck KH, Ludlow CL. Puls I, et al. Among authors: sumner cj. Ann Neurol. 2005 May;57(5):687-94. doi: 10.1002/ana.20468. Ann Neurol. 2005. PMID: 15852399 Free PMC article.
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.
149 results