検索結果 - Parvoneh Poorkaj
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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements 著者: Ian D’Souza, Parvoneh Poorkaj, Ming Hong, David Nochlin, Virginia M.‐Y. Lee, Thomas D. Bird, Gerard D. Schellenberg
出版事項 1999Artigo -
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A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) 著者: Thomas D. Bird, David Nochlin, Parvoneh Poorkaj, Monique Cherrier, Jeffrey Kaye, Haydeh Payami, Elaine R. Peskind, Thomas H. Lampe, Ellen Nemens, Philip J. Boyer, Daniela Berg
出版事項 1999Artigo -
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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 著者: Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi Chung Hui, Parvoneh Poorkaj, Sylvia Soder, Jan Maarten Cobben, Louanne Hudgins, James P. Evans, Lap Chee Tsui
出版事項 1996Artigo -
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Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17 著者: Lorraine N. Clark, Parvoneh Poorkaj, Zbigniew K. Wszołek, Daniel H. Geschwind, Ziad Nasreddine, Bruce L. Miller, Diane Li, Haydeh Payami, Fre Awert, Katerina Markopoulou, Athena Andreadis, Ian D’Souza, Virginia M.‐Y. Lee, Lee Reed, John Q. Trojanowski, Victoria Zhukareva, Thomas D. Bird, Gerard D. Schellenberg, Kirk C. Wilhelmsen
出版事項 1998Artigo -
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High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy 著者: Rosa Rademakers, Stacey Melquist, Marc Cruts, Jessie Theuns, Jurgen Del‐Favero, Parvoneh Poorkaj, Matt Baker, Kristel Sleegers, Richard Crook, Tim De Pooter, Samira Bel Kacem, Jennifer Adamson, Dirk Van den Bossche, Marleen Van den Broeck, Jennifer Gass, Ellen Corsmit, Peter De Rijk, Natalie Thomas, Sebastiaan Engelborghs, Michael G. Heckman, Irene Litvan, Julia E. Crook, Peter Paul De Deyn, Dennis W. Dickson, Gerard D. Schellenberg, Christine Van Broeckhoven, Michael Hutton
出版事項 2005Artigo
関連主題
Biology
Gene
Genetics
Medicine
Alzheimer's disease
Disease
Exon
Mutation
Pathology
Tau protein
Dementia
Frontotemporal dementia
Missense mutation
Alternative splicing
Atrophy
Gene expression
Gene isoform
Internal medicine
Molecular biology
Neurofibrillary tangle
Progressive supranuclear palsy
Senile plaques
Allele
Allele frequency
Candidate gene
Case-control study
Cell biology
Central nervous system
Chromosome
Chromosome 17 (human)