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259 results

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Page 1
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: fischbeck kh. 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. 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.
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
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
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: fischbeck kh. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.
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: fischbeck kh. 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: fischbeck kh. Ann Neurol. 2005 May;57(5):687-94. doi: 10.1002/ana.20468. Ann Neurol. 2005. PMID: 15852399 Free PMC article.
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Sivakumar K, et al. Among authors: fischbeck kh. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13. Brain. 2005. PMID: 16014653
259 results