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Results: 1 to 20 of 323

1.

Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.

Kamat SS, Camara K, Parsons WH, Chen DH, Dix MM, Bird TD, Howell AR, Cravatt BF.

Nat Chem Biol. 2015 Feb;11(2):164-71. doi: 10.1038/nchembio.1721. Epub 2015 Jan 12.

PMID:
25580854
[PubMed - in process]
2.

Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD; for the National Institute on Aging–Late-Onset Alzheimer’s Disease (NIA-LOAD) Family Study; Alzheimer’s Disease Genetics Consortium, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada MM, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh MI, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, Kramer P, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam MM, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Murrell JR, Olichney JM, Parisi JE, Perry W, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L.

JAMA Neurol. 2014 Dec 22. doi: 10.1001/jamaneurol.2014.2157. [Epub ahead of print]

PMID:
25531812
[PubMed - as supplied by publisher]
3.

ADCY5-Related Dyskinesia.

Shaw C, Hisama F, Friedman J, Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2014 Dec 18.

4.

The tau tubulin kinases TTBK1/2 promote accumulation of pathological TDP-43.

Liachko NF, McMillan PJ, Strovas TJ, Loomis E, Greenup L, Murrell JR, Ghetti B, Raskind MA, Montine TJ, Bird TD, Leverenz JB, Kraemer BC.

PLoS Genet. 2014 Dec 4;10(12):e1004803. doi: 10.1371/journal.pgen.1004803. eCollection 2014 Dec.

PMID:
25473830
[PubMed - in process]
Free PMC Article
5.

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.

Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA; Alzheimer Disease Genetics Consortium, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L.

JAMA Neurol. 2014 Nov;71(11):1394-404. doi: 10.1001/jamaneurol.2014.1491.

PMID:
25199842
[PubMed - in process]
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.

Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.

PMID:
24700542
[PubMed - indexed for MEDLINE]
7.

Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Cornejo-Olivas MR, Yu CE, Mazzetti P, Mata IF, Meza M, Lindo-Samanamud S, Leverenz JB, Bird TD.

Neurosci Lett. 2014 Mar 20;563:140-3. doi: 10.1016/j.neulet.2014.01.016. Epub 2014 Feb 2.

PMID:
24495933
[PubMed - indexed for MEDLINE]
8.

Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA).

Vardarajan BN, Faber KM, Bird TD, Bennett DA, Rosenberg R, Boeve BF, Graff-Radford NR, Goate AM, Farlow M, Sweet RA, Lantigua R, Medrano MZ, Ottman R, Schaid DJ, Foroud TM, Mayeux R; NIA-LOAD/NCRAD Family Study Group.

JAMA Neurol. 2014 Mar;71(3):315-23. doi: 10.1001/jamaneurol.2013.5570.

PMID:
24425039
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The Arctic AβPP mutation leads to Alzheimer's disease pathology with highly variable topographic deposition of differentially truncated Aβ.

Kalimo H, Lalowski M, Bogdanovic N, Philipson O, Bird TD, Nochlin D, Schellenberg GD, Brundin R, Olofsson T, Soliymani R, Baumann M, Wirths O, Bayer TA, Nilsson LN, Basun H, Lannfelt L, Ingelsson M.

Acta Neuropathol Commun. 2013 Sep 10;1(1):60. doi: 10.1186/2051-5960-1-60.

PMID:
24252272
[PubMed - in process]
Free PMC Article
10.

TREM2 and neurodegenerative disease.

Bird TD.

N Engl J Med. 2013 Oct 17;369(16):1568. doi: 10.1056/NEJMc1306509#SA5. No abstract available.

PMID:
24131188
[PubMed - indexed for MEDLINE]
11.

Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

Davis MY, Keene CD, Swanson PD, Sheehy C, Bird TD.

J Neurol Sci. 2013 Dec 15;335(1-2):134-8. doi: 10.1016/j.jns.2013.09.014. Epub 2013 Sep 17.

PMID:
24090759
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Parkinsonism syndrome in heterozygotes for Niemann-Pick C1.

Kluenemann HH, Nutt JG, Davis MY, Bird TD.

J Neurol Sci. 2013 Dec 15;335(1-2):219-20. doi: 10.1016/j.jns.2013.08.033. Epub 2013 Sep 3.

PMID:
24035292
[PubMed - indexed for MEDLINE]
13.

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.

Hum Mutat. 2013 Dec;34(12):1672-8. doi: 10.1002/humu.22437. Epub 2013 Oct 2.

PMID:
24027063
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Richardson RC, Tarleton JC, Bird TD, Gospe SM Jr.

Muscle Nerve. 2014 Apr;49(4):593-600. doi: 10.1002/mus.23976. Epub 2013 Sep 20.

PMID:
23893571
[PubMed - indexed for MEDLINE]
15.

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG.

Hum Mol Genet. 2013 Dec 1;22(23):4661-72. doi: 10.1093/hmg/ddt314. Epub 2013 Jul 2.

PMID:
23821646
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Longitudinal features of STIR bright signal in FSHD.

Friedman SD, Poliachik SL, Otto RK, Carter GT, Budech CB, Bird TD, Miller DG, Shaw DW.

Muscle Nerve. 2014 Feb;49(2):257-60.

PMID:
23720194
[PubMed - indexed for MEDLINE]
17.

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).

Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH.

Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16.

PMID:
23595882
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Hereditary ataxias: overview.

Jayadev S, Bird TD.

Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Review.

PMID:
23538602
[PubMed - indexed for MEDLINE]
19.

CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration.

Liachko NF, McMillan PJ, Guthrie CR, Bird TD, Leverenz JB, Kraemer BC.

Ann Neurol. 2013 Jul;74(1):39-52. doi: 10.1002/ana.23870. Epub 2013 Jul 8.

PMID:
23424178
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset.

Zhao W, Marchani EE, Cheung CY, Steinbart EJ, Schellenberg GD, Bird TD, Wijsman EM.

Am J Med Genet B Neuropsychiatr Genet. 2013 Mar;162B(2):201-12. doi: 10.1002/ajmg.b.32133. Epub 2013 Jan 25.

PMID:
23355194
[PubMed - indexed for MEDLINE]
Free PMC Article

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