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Page 1
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.
Guber RD, Takyar V, Kokkinis A, Fox DA, Alao H, Kats I, Bakar D, Remaley AT, Hewitt SM, Kleiner DE, Liu CY, Hadigan C, Fischbeck KH, Rotman Y, Grunseich C. Guber RD, et al. Among authors: fischbeck kh. Neurology. 2017 Dec 12;89(24):2481-2490. doi: 10.1212/WNL.0000000000004748. Epub 2017 Nov 15. Neurology. 2017. PMID: 29142082 Free PMC article.
Localization of the gene for X-linked spinal muscular atrophy.
Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, et al. Fischbeck KH, et al. Neurology. 1986 Dec;36(12):1595-8. doi: 10.1212/wnl.36.12.1595. Neurology. 1986. PMID: 3466055
Jaw drop in Kennedy's disease.
Sumner CJ, Fischbeck KH. Sumner CJ, et al. Among authors: fischbeck kh. Neurology. 2002 Nov 12;59(9):1471-2. doi: 10.1212/01.wnl.0000033325.01878.13. Neurology. 2002. PMID: 12427914 No abstract available.
Valproic acid increases SMN levels in spinal muscular atrophy patient cells.
Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH. Sumner CJ, et al. Among authors: fischbeck kh. Ann Neurol. 2003 Nov;54(5):647-54. doi: 10.1002/ana.10743. Ann Neurol. 2003. PMID: 14595654
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: fischbeck kh. Ann Neurol. 2005 May;57(5):687-94. doi: 10.1002/ana.20468. Ann Neurol. 2005. PMID: 15852399 Free PMC article.
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.
259 results