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Page 1
Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation.
Pickering-Brown S, Baker M, Bird T, Trojanowski J, Lee V, Morris H, Rossor M, Janssen JC, Neary D, Craufurd D, Richardson A, Snowden J, Hardy J, Mann D, Hutton M. Pickering-Brown S, et al. Among authors: bird t. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):79-82. doi: 10.1002/ajmg.b.20083. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755449
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: bird t. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain.
Wheeler JM, McMillan P, Strovas TJ, Liachko NF, Amlie-Wolf A, Kow RL, Klein RL, Szot P, Robinson L, Guthrie C, Saxton A, Kanaan NM, Raskind M, Peskind E, Trojanowski JQ, Lee VMY, Wang LS, Keene CD, Bird T, Schellenberg GD, Kraemer B. Wheeler JM, et al. Among authors: bird t. Sci Transl Med. 2019 Dec 18;11(523):eaao6545. doi: 10.1126/scitranslmed.aao6545. Sci Transl Med. 2019. PMID: 31852801 Free PMC article.
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R, Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V, Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass NJ, Gurling H, McQuillin A; GERAD Consortium; National Institute on Aging Late-Onset Alzheimer's Disease Family Study Group; Holmans P, Jones L, Devlin B, Klei L, Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ, O'Donovan MC, Mayeux R, Kamboh MI, Williams J. Hollingworth P, et al. Mol Psychiatry. 2012 Dec;17(12):1316-27. doi: 10.1038/mp.2011.125. Epub 2011 Oct 18. Mol Psychiatry. 2012. PMID: 22005930 Free PMC article.
Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.
Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium. Cruchaga C, et al. Among authors: bird t. PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. PLoS One. 2012. PMID: 22312439 Free PMC article.
Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
Swaminathan S, Huentelman MJ, Corneveaux JJ, Myers AJ, Faber KM, Foroud T, Mayeux R, Shen L, Kim S, Turk M, Hardy J, Reiman EM, Saykin AJ; Alzheimer's Disease Neuroimaging Initiative and NIA-LOAD/NCRAD Family Study Group. Swaminathan S, et al. PLoS One. 2012;7(12):e50640. doi: 10.1371/journal.pone.0050640. Epub 2012 Dec 5. PLoS One. 2012. PMID: 23227193 Free PMC article.
Challenges assessing clinical endpoints in early Huntington disease.
Paulsen JS, Wang C, Duff K, Barker R, Nance M, Beglinger L, Moser D, Williams JK, Simpson S, Langbehn D, van Kammen DP; PREDICT-HD Investigators of the Huntington Study Group. Paulsen JS, et al. Mov Disord. 2010 Nov 15;25(15):2595-603. doi: 10.1002/mds.23337. Mov Disord. 2010. PMID: 20623772 Free PMC article.
SCA2 may present as levodopa-responsive parkinsonism.
Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M. Payami H, et al. Among authors: bird t. Mov Disord. 2003 Apr;18(4):425-9. doi: 10.1002/mds.10375. Mov Disord. 2003. PMID: 12671950
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. Among authors: bird t. Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027057 Free PMC article.
909 results