Tau isoform regulation is region- and cell-specific in mouse brain
McMillan, Pamela, Korvatska, Elena, Poorkaj, Parvoneh, Evstafjeva, Zana, Robinson, Linda, Greenup, Lynne, Leverenz, James, Schellenberg, Gerard D., D'Souza, Ian
Published in Journal of comparative neurology (1911) (20.12.2008)
Published in Journal of comparative neurology (1911) (20.12.2008)
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Tau is a candidate gene for chromosome 17 frontotemporal dementia
Poorkaj, P, Bird, T D, Wijsman, E, Nemens, E, Garruto, R M, Anderson, L, Andreadis, A, Wiederholt, W C, Raskind, M, Schellenberg, G D
Published in Annals of neurology (01.06.1998)
Published in Annals of neurology (01.06.1998)
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Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
Kay, Denise M., Moran, Dawn, Moses, Lina, Poorkaj, Parvoneh, Zabetian, Cyrus P., Nutt, John, Factor, Stewart A., Yu, Chang-En, Montimurro, Jennifer S., Keefe, Robert G., Schellenberg, Gerard D., Payami, Haydeh
Published in Annals of neurology (01.01.2007)
Published in Annals of neurology (01.01.2007)
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Journal Article
Missense and Silent Tau Gene Mutations Cause Frontotemporal Dementia with Parkinsonism-Chromosome 17 Type, by Affecting Multiple Alternative RNA Splicing Regulatory Elements
D'Souza, Ian, Poorkaj, Parvoneh, Hong, Ming, Nochlin, David, Virginia M.-Y. Lee, Bird, Thomas D., Schellenberg, Gerard D.
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (11.05.1999)
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Journal Article
Pathogenic Implications of Mutations in the Tau Gene in Pallido-Ponto-Nigral Degeneration and Related Neurodegenerative Disorders Linked to Chromosome 17
Clark, Lorraine N., Poorkaj, Parvoneh, Wszolek, Zbigniew, Geschwind, Daniel H., Nasreddine, Ziad S., Miller, Bruce, Li, Diane, Payami, Haydeh, Awert, Fre, Markopoulou, Katerina, Andreadis, Athena, D'Souza, Ian, Virginia M.-Y. Lee, Reed, Lee, Trojanowski, John Q., Zhukareva, Victoria, Bird, Thomas, Schellenberg, Gerard, Wilhelmsen, Kirk C.
Published in Proceedings of the National Academy of Sciences - PNAS (27.10.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (27.10.1998)
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Journal Article
Candidate Gene for the Chromosome 1 Familial Alzheimer's Disease Locus
Levy-Lahad, Ephrat, Wasco, Wilma, Poorkaj, Parvoneh, Romano, Donna M., Oshima, Junko, Pettingell, Warren H., Yu, Chang-en, Jondro, Paul D., Schmidt, Stephen D., Wang, Kai, Crowley, Annette C., Fu, Ying-Hui, Guenette, Suzanne Y., Galas, David, Nemens, Ellen, Wijsman, Ellen M., Bird, Thomas D., Schellenberg, Gerard D., Tanzi, Rudolph E.
Published in Science (American Association for the Advancement of Science) (18.08.1995)
Published in Science (American Association for the Advancement of Science) (18.08.1995)
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Journal Article
The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
Ikeda, M, Sharma, V, Sumi, S M, Rogaeva, E A, Poorkaj, P, Sherrington, R, Nee, L, Tsuda, T, Oda, N, Watanabe, M, Aoki, M, Shoji, M, Abe, K, Itoyama, Y, Hirai, S, Schellenberg, G D, Bird, T D, St George-Hyslop, P H
Published in Annals of neurology (01.12.1996)
Published in Annals of neurology (01.12.1996)
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Journal Article
Familial prion disease with alzheimer disease-like tau pathology and clinical phenotype
Jayadev, Suman, Nochlin, David, Poorkaj, Parvoneh, Steinbart, Ellen J., Mastrianni, James A., Montine, Thomas J., Ghetti, Bernardino, Schellenberg, Gerard D., Bird, Thomas D., Leverenz, James B.
Published in Annals of neurology (01.04.2011)
Published in Annals of neurology (01.04.2011)
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Journal Article
A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity
Poorkaj, Parvoneh, Raskind, Wendy H., Leverenz, James B., Matsushita, Mark, Zabetian, Cyrus P., Samii, Ali, Kim, Sophia, Gazi, Nayiry, Nutt, John G., Wolff, John, Yearout, Dora, Greenup, J. Lynne, Steinbart, Ellen J., Bird, Thomas D.
Published in Movement disorders (30.07.2010)
Published in Movement disorders (30.07.2010)
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Journal Article
A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)
Bird, Thomas D., Nochlin, David, Poorkaj, Parvoneh, Cherrier, Monique, Kaye, Jeffrey, Payami, Haydeh, Peskind, Elaine, Lampe, Thomas H., Nemens, Ellen, Boyer, Philip J., Schellenberg, Gerard D.
Published in Brain (London, England : 1878) (01.04.1999)
Published in Brain (London, England : 1878) (01.04.1999)
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Journal Article
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
Rademakers, Rosa, Melquist, Stacey, Cruts, Marc, Theuns, Jessie, Del-Favero, Jurgen, Poorkaj, Parvoneh, Baker, Matt, Sleegers, Kristel, Crook, Richard, De Pooter, Tim, Kacem, Samira Bel, Adamson, Jennifer, Van den Bossche, Dirk, Van den Broeck, Marleen, Gass, Jennifer, Corsmit, Ellen, De Rijk, Peter, Thomas, Natalie, Engelborghs, Sebastiaan, Heckman, Michael, Litvan, Irene, Crook, Julia, De Deyn, Peter P., Dickson, Dennis, Schellenberg, Gerard D., Van Broeckhoven, Christine, Hutton, Michael L.
Published in Human molecular genetics (01.11.2005)
Published in Human molecular genetics (01.11.2005)
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A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)
Yasuda, Minoru, Takamatsu, Junichi, D'Souza, Ian, Crowther, R. Anthony, Kawamata, Toshio, Hasegawa, Masato, Hasegawa, Hiroshi, Grazia Spillantini, Maria, Tanimukai, Satoshi, Poorkaj, Parvoneh, Varani, Luca, Varani, Gabriele, Iwatsubo, Takeshi, Goedert, Michel, Schellenberg, Gerard D., Tanaka, Chikako
Published in Annals of neurology (01.04.2000)
Published in Annals of neurology (01.04.2000)
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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, Michael A., Scherer, Stephen W., Rommens, Johanna M., Hui, Chi-Chung, Poorkaj, Parvoneh, Soder, Sylvia, Cobben, Jan Maarten, Hudgins, Louanne, Evans, James P., Tsui, Lap-Chee
Published in Human molecular genetics (01.05.1996)
Published in Human molecular genetics (01.05.1996)
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Journal Article
Wide range in age of onset for chromosome 1--related familial Alzheimer's disease
Bird, T D, Levy-Lahad, E, Poorkaj, P, Sharma, V, Nemens, E, Lahad, A, Lampe, T H, Schellenberg, G D
Published in Annals of neurology (01.12.1996)
Published in Annals of neurology (01.12.1996)
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Journal Article
Tau mutations and gene expression
Schellenberg, Gerard D., D'Souza, Ian, Poorkaj, Parvoneh, Bird, Thomas D.
Published in Neurobiology of aging (01.05.2000)
Published in Neurobiology of aging (01.05.2000)
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Journal Article
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1
SCHERER, S. W, POORKAJ, P, BERG, M. A, DONLON, T, RIVERA, H, PFEIFFER, R. A, NARITOMI, K, HUGHES, H, GENUARDI, M, GUERRIERI, M, NERI, G, LOVREIN, E, ALLEN, T, MAGENIS, E, LAP-CHEE TSUI, EVANS, J. P, KIM, J, GESHURI, D, NUNES, M, SODER, S, STEPHENS, K, PAGON, R. A, PATTON, M. A
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
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