Bird TD - Search Results

1

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ. Sullivan JM, et al. Among authors: bird td. Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029. eCollection 2015 Dec. Neurol Genet. 2015. PMID: 27066566 Free PMC article.

2

Spinocerebellar ataxia type 14.

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

3

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: bird td. 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.

4

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Ma MT, Chen DH, Raskind WH, Bird TD. Ma MT, et al. Among authors: bird td. Neuromuscul Disord. 2020 Jul;30(7):572-575. doi: 10.1016/j.nmd.2020.05.005. Epub 2020 May 23. Neuromuscul Disord. 2020. PMID: 32600828 Free PMC article.

5

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: bird td. 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.

6

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: bird td. 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.

7

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen DH, Lipe HP, Qin Z, Bird TD. Chen DH, et al. Among authors: bird td. J Neurol Sci. 2002 Apr 15;196(1-2):91-6. doi: 10.1016/s0022-510x(02)00031-x. J Neurol Sci. 2002. PMID: 11959162

8

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: bird td. Arch Neurol. 2005 Apr;62(4):597-600. doi: 10.1001/archneur.62.4.597. Arch Neurol. 2005. PMID: 15824259

9

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: bird td. 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.

10

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: bird td. Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4. Neurology. 2015. PMID: 26537056 Free PMC article.

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