Raskind WH - Search Results

1

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: raskind wh. 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.

2

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.

3

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.

4

Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.

Fernandez M, Raskind W, Wolff J, Matsushita M, Yuen E, Graf W, Lipe H, Bird T. Fernandez M, et al. Ann Neurol. 2001 Apr;49(4):486-92. Ann Neurol. 2001. PMID: 11310626

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

6

Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.

Raskind WH, Matsushita M, Peter B, Biberston J, Wolff J, Lipe H, Burbank R, Bird TD. Raskind WH, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):570-4. doi: 10.1002/ajmg.b.30879. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18980218 Free PMC article.

7

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.

8

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.

9

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Friedman JR, Méneret A, Chen DH, Trouillard O, Vidailhet M, Raskind WH, Roze E. Friedman JR, et al. Among authors: raskind wh. Mov Disord. 2016 Jan;31(1):147-8. doi: 10.1002/mds.26494. Epub 2015 Dec 21. Mov Disord. 2016. PMID: 26686870 Free PMC article. No abstract available.

10

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Raskind WH, Friedman JR, Roze E, Méneret A, Chen DH, Bird TD. Raskind WH, et al. Mov Disord. 2017 Feb;32(2):305-306. doi: 10.1002/mds.26888. Epub 2016 Dec 9. Mov Disord. 2017. PMID: 27933653 Free PMC article. No abstract available.

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