Raskind WH - Search Results

1

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.

2

A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.

Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD. Brkanac Z, et al. Among authors: raskind wh. Arch Neurol. 2002 Aug;59(8):1291-5. doi: 10.1001/archneur.59.8.1291. Arch Neurol. 2002. PMID: 12164726

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. Among authors: raskind wh. 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: raskind wh. Arch Neurol. 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749. Arch Neurol. 2003. PMID: 14676051

5

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.

6

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.

Chen DH, Latimer C, Yagi M, Ndugga-Kabuye MK, Heigham E, Jayadev S, Meabon JS, Gomez CM, Keene CD, Cook DG, Raskind WH, Bird TD. Chen DH, et al. Among authors: raskind wh. Neurol Genet. 2020 Feb 10;6(2):1-13. doi: 10.1212/NXG.0000000000000397. eCollection 2020 Apr. Neurol Genet. 2020. PMID: 32211513 Free PMC article.

7

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

8

Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.

Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH. Brkanac Z, et al. Among authors: raskind wh. Am J Med Genet. 2002 May 8;114(4):450-7. doi: 10.1002/ajmg.10361. Am J Med Genet. 2002. PMID: 11992570

9

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. Among authors: raskind wh. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

10

IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.

Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. Brkanac Z, et al. Among authors: raskind wh. Am J Hum Genet. 2009 May;84(5):692-7. doi: 10.1016/j.ajhg.2009.04.008. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409521 Free PMC article.

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