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259 results

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Page 1
Spinal muscular atrophy.
Arnold ES, Fischbeck KH. Arnold ES, et al. Among authors: fischbeck kh. Handb Clin Neurol. 2018;148:591-601. doi: 10.1016/B978-0-444-64076-5.00038-7. Handb Clin Neurol. 2018. PMID: 29478602 Review.
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.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: fischbeck kh. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
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
Spinal muscular atrophy in the neonate.
Markowitz JA, Tinkle MB, Fischbeck KH. Markowitz JA, et al. Among authors: fischbeck kh. J Obstet Gynecol Neonatal Nurs. 2004 Jan-Feb;33(1):12-20. doi: 10.1177/0884217503261125. J Obstet Gynecol Neonatal Nurs. 2004. PMID: 14971549 Review.
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.
259 results