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Results: 1 to 20 of 317

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.

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

PMID:
24700542
[PubMed - indexed for MEDLINE]
2.

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 - in process]
3.

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
4.

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]
Free Article
5.

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]
6.

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]
7.

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]
8.

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]
9.

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]
10.

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]
11.

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]
12.

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]
13.

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]
14.

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
15.

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
16.

TOMM40 intron 6 poly-T length, age at onset, and neuropathology of AD in individuals with APOE ε3/ε3.

Li G, Bekris LM, Leong L, Steinbart EJ, Shofer JB, Crane PK, Larson EB, Peskind ER, Bird TD, Yu CE.

Alzheimers Dement. 2013 Sep;9(5):554-61. doi: 10.1016/j.jalz.2012.06.009. Epub 2012 Nov 22.

PMID:
23183136
[PubMed - indexed for MEDLINE]
17.

The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease.

Roxburgh RH, Smith CO, Lim JG, Bachman DF, Byrd E, Bird TD.

J Neurol Sci. 2013 Jan 15;324(1-2):176-8. doi: 10.1016/j.jns.2012.09.030. Epub 2012 Oct 17.

PMID:
23083689
[PubMed - indexed for MEDLINE]
18.

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM.

Hum Mol Genet. 2012 Dec 15;21(26):5472-83. doi: 10.1093/hmg/dds392. Epub 2012 Sep 21.

PMID:
23001565
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

Area-Gomez E, Del Carmen Lara Castillo M, Tambini MD, Guardia-Laguarta C, de Groof AJ, Madra M, Ikenouchi J, Umeda M, Bird TD, Sturley SL, Schon EA.

EMBO J. 2012 Nov 5;31(21):4106-23. doi: 10.1038/emboj.2012.202. Epub 2012 Aug 14.

PMID:
22892566
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.

PMID:
22782511
[PubMed - indexed for MEDLINE]
Free PMC Article

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