Chen DH - Search Results

1

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: chen dh, chen dx. 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.

2

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.

Sultana R, Yu CE, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider ST, Trask BJ, Green ED, Raskind WH, Disteche CM, Wijsman E, Dawson G, Storm DR, Schellenberg GD, Villacres EC. Sultana R, et al. Genomics. 2002 Aug;80(2):129-34. doi: 10.1006/geno.2002.6810. Genomics. 2002. PMID: 12160723

3

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Chen DH, et al. Am J Hum Genet. 2003 Apr;72(4):839-49. doi: 10.1086/373883. Epub 2003 Mar 17. Am J Hum Genet. 2003. PMID: 12644968 Free PMC article.

4

Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.

Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K. Yabe I, et al. Among authors: chen dh. Arch Neurol. 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749. Arch Neurol. 2003. PMID: 14676051

5

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.

Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Chen DH, et al. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

6

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

Chen DH, Raskind WH, Parson WW, Sonnen JA, Vu T, Zheng Y, Matsushita M, Wolff J, Lipe H, Bird TD. Chen DH, et al. J Neurol Sci. 2010 Sep 15;296(1-2):22-9. doi: 10.1016/j.jns.2010.06.017. Epub 2010 Jul 14. J Neurol Sci. 2010. PMID: 20633900 Free PMC article.

7

Spinocerebellar ataxia type 14.

Chen DH, Raskind WH, Bird TD. Chen DH, et al. Handb Clin Neurol. 2012;103:555-9. doi: 10.1016/B978-0-444-51892-7.00036-X. Handb Clin Neurol. 2012. PMID: 21827914 Review.

8

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Among authors: chen dh. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.

9

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Chen DH, Naydenov A, Blankman JL, Mefford HC, Davis M, Sul Y, Barloon AS, Bonkowski E, Wolff J, Matsushita M, Smith C, Cravatt BF, Mackie K, Raskind WH, Stella N, Bird TD. Chen DH, et al. Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2. Hum Mutat. 2013. PMID: 24027063 Free PMC article.

10

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Chen YZ, et al. Among authors: chen dh, chen q. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. Ann Neurol. 2014. PMID: 24700542 Free PMC article.

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