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397 results
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Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP. Spacey SD, et al. Among authors: bird td. Ann Neurol. 2004 Aug;56(2):213-20. doi: 10.1002/ana.20169. Ann Neurol. 2004. PMID: 15293273
Why do DNA testing? Practical and ethical implications of new neurogenetic tests.
Bird TD, Bennett RL. Bird TD, et al. Ann Neurol. 1995 Aug;38(2):141-6. doi: 10.1002/ana.410380204. Ann Neurol. 1995. PMID: 7654060
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Fink JK, et al. Neurology. 1996 Jun;46(6):1507-14. doi: 10.1212/wnl.46.6.1507. Neurology. 1996. PMID: 8649538 Review.
Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation.
Furukawa K, Wang Y, Yao PJ, Fu W, Mattson MP, Itoyama Y, Onodera H, D'Souza I, Poorkaj PH, Bird TD, Schellenberg GD. Furukawa K, et al. Among authors: bird td. J Neurochem. 2003 Oct;87(2):427-36. doi: 10.1046/j.1471-4159.2003.02020.x. J Neurochem. 2003. PMID: 14511120
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: bird td. Arch Neurol. 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749. Arch Neurol. 2003. PMID: 14676051
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
Klein CJ, Bird T, Ertekin-Taner N, Lincoln S, Hjorth R, Wu Y, Kwok J, Mer G, Dyck PJ, Nicholson GA. Klein CJ, et al. Neurology. 2013 Feb 26;80(9):824-8. doi: 10.1212/WNL.0b013e318284076d. Epub 2013 Jan 30. Neurology. 2013. PMID: 23365052 Free PMC article.
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.
Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Pellegrino JE, et al. Among authors: bird td. Neurology. 1996 Apr;46(4):1128-32. doi: 10.1212/wnl.46.4.1128. Neurology. 1996. PMID: 8780104
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF. Street VA, et al. Among authors: bird td. Neurology. 2003 Jan 14;60(1):22-6. doi: 10.1212/wnl.60.1.22. Neurology. 2003. PMID: 12525712
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.
Hall DA, Leehey MA, Filley CM, Steinbart E, Montine T, Schellenberg GD, Bosque P, Nixon R, Bird T. Hall DA, et al. Neurology. 2005 Apr 12;64(7):1304-6. doi: 10.1212/01.WNL.0000156911.70131.06. Neurology. 2005. PMID: 15824374
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027057 Free PMC article.
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