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Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.
Pilo CA, Baffi TR, Kornev AP, Kunkel MT, Malfavon M, Chen DH, Rossitto LA, Chen DX, Huang LC, Longman C, Kannan N, Raskind WH, Gonzalez DJ, Taylor SS, Gorrie G, Newton AC. Pilo CA, et al. Among authors: raskind wh. Sci Signal. 2022 Sep 27;15(753):eabk1147. doi: 10.1126/scisignal.abk1147. Epub 2022 Sep 27. Sci Signal. 2022. PMID: 36166510 Free PMC article.
Spinocerebellar ataxia type 14.
Chen DH, Raskind WH, Bird TD. Chen DH, et al. Among authors: raskind wh. Handb Clin Neurol. 2012;103:555-9. doi: 10.1016/B978-0-444-51892-7.00036-X. Handb Clin Neurol. 2012. PMID: 21827914 Review.
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD. Chen DH, et al. Among authors: raskind wh. Neurology. 2005 Apr 12;64(7):1258-60. doi: 10.1212/01.WNL.0000156801.64549.6B. Neurology. 2005. PMID: 15824357
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Chen DH, et al. Among authors: raskind wh. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. Am J Hum Genet. 2016. PMID: 27259050 Free PMC article.
195 results