Raskind WH - Search Results

1

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

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

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

4

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.

5

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

6

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.

7

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. Chen DH, et al. Among authors: raskind wh. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.

8

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. Among authors: raskind wh. 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.

9

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Chen YZ, et al. Among authors: raskind wh. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54. Arch Neurol. 2012. PMID: 22782511 Free PMC article.

10

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. Among authors: raskind wh. 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.

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