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Items: 41

1.

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB.

Ann Neurol. 2011 Apr;69(4):712-20. doi: 10.1002/ana.22264. Epub 2011 Mar 17.

2.

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2.

Kay DM, Stevens CF, Hamza TH, Montimurro JS, Zabetian CP, Factor SA, Samii A, Griffith A, Roberts JW, Molho ES, Higgins DS, Gancher S, Moses L, Zareparsi S, Poorkaj P, Bird T, Nutt J, Schellenberg GD, Payami H.

Neurology. 2010 Sep 28;75(13):1189-94. doi: 10.1212/WNL.0b013e3181f4d832.

3.

A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.

Poorkaj P, Raskind WH, Leverenz JB, Matsushita M, Zabetian CP, Samii A, Kim S, Gazi N, Nutt JG, Wolff J, Yearout D, Greenup JL, Steinbart EJ, Bird TD.

Mov Disord. 2010 Jul 30;25(10):1409-17. doi: 10.1002/mds.23085.

4.

Tau isoform regulation is region- and cell-specific in mouse brain.

McMillan P, Korvatska E, Poorkaj P, Evstafjeva Z, Robinson L, Greenup L, Leverenz J, Schellenberg GD, D'Souza I.

J Comp Neurol. 2008 Dec 20;511(6):788-803. doi: 10.1002/cne.21867.

5.

Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients.

Kay DM, Moran D, Moses L, Poorkaj P, Zabetian CP, Nutt J, Factor SA, Yu CE, Montimurro JS, Keefe RG, Schellenberg GD, Payami H.

Ann Neurol. 2007 Jan;61(1):47-54.

PMID:
17187375
6.

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML.

Hum Mol Genet. 2005 Nov 1;14(21):3281-92. Epub 2005 Sep 29.

PMID:
16195395
7.

Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism.

Poorkaj P, Moses L, Montimurro JS, Nutt JG, Schellenberg GD, Payami H.

BMC Neurol. 2005 Feb 22;5(1):4.

8.

parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.

Poorkaj P, Nutt JG, James D, Gancher S, Bird TD, Steinbart E, Schellenberg GD, Payami H.

Am J Med Genet A. 2004 Aug 15;129A(1):44-50. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):56.

PMID:
15266615
9.

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.

J Neurochem. 2003 Oct;87(2):427-36.

10.

Familial dementia with lewy bodies: a clinical and neuropathological study of 2 families.

Tsuang DW, Dalan AM, Eugenio CJ, Poorkaj P, Limprasert P, La Spada AR, Steinbart EJ, Bird TD, Leverenz JB.

Arch Neurol. 2002 Oct;59(10):1622-30.

PMID:
12374501
11.

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

Poorkaj P, Muma NA, Zhukareva V, Cochran EJ, Shannon KM, Hurtig H, Koller WC, Bird TD, Trojanowski JQ, Lee VM, Schellenberg GD.

Ann Neurol. 2002 Oct;52(4):511-6.

PMID:
12325083
12.

TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam.

Poorkaj P, Tsuang D, Wijsman E, Steinbart E, Garruto RM, Craig UK, Chapman NH, Anderson L, Bird TD, Plato CC, Perl DP, Weiderholt W, Galasko D, Schellenberg GD.

Arch Neurol. 2001 Nov;58(11):1871-8.

PMID:
11708997
13.

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia.

Steinbart EJ, Smith CO, Poorkaj P, Bird TD.

Arch Neurol. 2001 Nov;58(11):1828-31.

PMID:
11708991
14.

A genomic sequence analysis of the mouse and human microtubule-associated protein tau.

Poorkaj P, Kas A, D'Souza I, Zhou Y, Pham Q, Stone M, Olson MV, Schellenberg GD.

Mamm Genome. 2001 Sep;12(9):700-12.

PMID:
11641718
15.

Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia.

Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD.

Arch Neurol. 2001 Mar;58(3):383-7.

PMID:
11255441
16.

The genetics of Alzheimer's disease.

Schellenberg GD, D'Souza I, Poorkaj P.

Curr Psychiatry Rep. 2000 Apr;2(2):158-64. Review.

PMID:
11122949
17.

Single-step conversion of P1 and P1 artificial chromosome clones into yeast artificial chromosomes.

Poorkaj P, Peterson KR, Schellenberg GD.

Genomics. 2000 Aug 15;68(1):106-10.

PMID:
10950935
18.

A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

Yasuda M, Takamatsu J, D'Souza I, Crowther RA, Kawamata T, Hasegawa M, Hasegawa H, Spillantini MG, Tanimukai S, Poorkaj P, Varani L, Varani G, Iwatsubo T, Goedert M, Schellenberg DG, Tanaka C.

Ann Neurol. 2000 Apr;47(4):422-9.

PMID:
10762152
19.

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.

Kertesz A, Kawarai T, Rogaeva E, St George-Hyslop P, Poorkaj P, Bird TD, Munoz DG.

Neurology. 2000 Feb 22;54(4):818-27.

PMID:
10690970
20.

Pro-apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism.

Furukawa K, D'Souza I, Crudder CH, Onodera H, Itoyama Y, Poorkaj P, Bird TD, Schellenberg GD.

Neuroreport. 2000 Jan 17;11(1):57-60.

PMID:
10683829
21.

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

Yasuda M, Kawamata T, Komure O, Kuno S, D'Souza I, Poorkaj P, Kawai J, Tanimukai S, Yamamoto Y, Hasegawa H, Sasahara M, Hazama F, Schellenberg GD, Tanaka C.

Neurology. 1999 Sep 11;53(4):864-8.

PMID:
10489057
22.

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements.

D'Souza I, Poorkaj P, Hong M, Nochlin D, Lee VM, Bird TD, Schellenberg GD.

Proc Natl Acad Sci U S A. 1999 May 11;96(10):5598-603.

23.

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

Bird TD, Nochlin D, Poorkaj P, Cherrier M, Kaye J, Payami H, Peskind E, Lampe TH, Nemens E, Boyer PJ, Schellenberg GD.

Brain. 1999 Apr;122 ( Pt 4):741-56. Erratum in: Brain 1999 Jul;122(Pt 7):1398.

PMID:
10219785
24.

A distinct familial presenile dementia with a novel missense mutation in the tau gene.

Iijima M, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.

Neuroreport. 1999 Feb 25;10(3):497-501.

PMID:
10208578
25.

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.

Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC.

Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13103-7.

26.

Tau is a candidate gene for chromosome 17 frontotemporal dementia.

Poorkaj P, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.

Ann Neurol. 1998 Jun;43(6):815-25. Erratum in: Ann Neurol 1998 Sep;44(3):428.

PMID:
9629852
27.

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.

Poorkaj P, Sharma V, Anderson L, Nemens E, Alonso ME, Orr H, White J, Heston L, Bird TD, Schellenberg GD.

Hum Mutat. 1998;11(3):216-21.

PMID:
9521423
28.

An expression map from human chromosome 14q24.3.

Sharma V, Poorkaj P, Hisama F, Bonnycastle L, Yu CE, Massa H, Trask B, Clancy KP, Patterson D, Weissman SM, Schellenberg GD.

Genomics. 1998 Jan 15;47(2):314-8.

PMID:
9479506
29.

Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.

Bird TD, Wijsman EM, Nochlin D, Leehey M, Sumi SM, Payami H, Poorkaj P, Nemens E, Rafkind M, Schellenberg GD.

Neurology. 1997 Apr;48(4):949-54.

PMID:
9109883
30.

Wide range in age of onset for chromosome 1--related familial Alzheimer's disease.

Bird TD, Levy-Lahad E, Poorkaj P, Sharma V, Nemens E, Lahad A, Lampe TH, Schellenberg GD.

Ann Neurol. 1996 Dec;40(6):932-6.

PMID:
9007102
31.

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg GD, Bird TD, St George-Hyslop PH.

Ann Neurol. 1996 Dec;40(6):912-7.

PMID:
9007097
32.

Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease.

Murphy GM Jr, Forno LS, Ellis WG, Nochlin D, Levy-Lahad E, Poorkaj P, Bird TD, Jiang Z, Cordell B.

Am J Pathol. 1996 Dec;149(6):1839-46.

33.

Neuronal expression of STM2 mRNA in human brain is reduced in Alzheimer's disease.

McMillan PJ, Leverenz JB, Poorkaj P, Schellenberg GD, Dorsa DM.

J Histochem Cytochem. 1996 Nov;44(11):1215-22.

PMID:
8918895
34.

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

Mann DM, Iwatsubo T, Cairns NJ, Lantos PL, Nochlin D, Sumi SM, Bird TD, Poorkaj P, Hardy J, Hutton M, Prihar G, Crook R, Rossor MN, Haltia M.

Ann Neurol. 1996 Aug;40(2):149-56.

PMID:
8773595
35.

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.

Scheuner D, Eckman C, Jensen M, Song X, Citron M, Suzuki N, Bird TD, Hardy J, Hutton M, Kukull W, Larson E, Levy-Lahad E, Viitanen M, Peskind E, Poorkaj P, Schellenberg G, Tanzi R, Wasco W, Lannfelt L, Selkoe D, Younkin S.

Nat Med. 1996 Aug;2(8):864-70.

PMID:
8705854
36.

Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.

Levy-Lahad E, Poorkaj P, Wang K, Fu YH, Oshima J, Mulligan J, Schellenberg GD.

Genomics. 1996 Jun 1;34(2):198-204.

PMID:
8661049
37.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans JP, Tsui LC.

Hum Mol Genet. 1996 May;5(5):571-9.

PMID:
8733122
38.

Organellar clusters formed by mitochondrial-rough endoplasmic reticulum associations: an ordered arrangement of mitochondria in hepatocytes.

Cascarano J, Chambers PA, Schwartz E, Poorkaj P, Gondo RE.

Hepatology. 1995 Sep;22(3):837-46.

PMID:
7657291
39.

Candidate gene for the chromosome 1 familial Alzheimer's disease locus.

Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, et al.

Science. 1995 Aug 18;269(5226):973-7.

PMID:
7638622
40.

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S, et al.

Hum Mol Genet. 1994 Aug;3(8):1345-54.

PMID:
7987313
41.

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA, et al.

Am J Hum Genet. 1994 Jul;55(1):12-20. Review.

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