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Page 1
Mutant dynactin in motor neuron disease.
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH. Puls I, et al. Among authors: fischbeck kh. Nat Genet. 2003 Apr;33(4):455-6. doi: 10.1038/ng1123. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627231
Mitochondrial abnormalities in spinal and bulbar muscular atrophy.
Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH. Ranganathan S, et al. Among authors: fischbeck kh. Hum Mol Genet. 2009 Jan 1;18(1):27-42. doi: 10.1093/hmg/ddn310. Epub 2008 Sep 29. Hum Mol Genet. 2009. PMID: 18824496 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: fischbeck kh. 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.
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: fischbeck kh. 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.
259 results