المؤلفون: Rutherford, Nicola J, Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M, Finch, Nicole A, Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J, Kuntz, Karen, Crook, Richard JP, Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H, Geschwind, Daniel H, Knopman, David S, Mitsumoto, Hiroshi, Petersen, Ronald C, Cashman, Neil R, Hutton, Mike, Shaw, Christopher E, Boylan, Kevin B, Boeve, Bradley, Graff-Radford, Neill R, Wszolek, Zbigniew K, Caselli, Richard J, Dickson, Dennis W, Mackenzie, Ian R, Petrucelli, Leonard, Rademakers, Rosa

المصدر: PLoS genetics. 4(9)

مصطلحات موضوعية: Cell Line, Tumor, Humans, Amyotrophic Lateral Sclerosis, Neurodegenerative Diseases, DNA-Binding Proteins, Cohort Studies, Pedigree, DNA Mutational Analysis, Mutation, Missense, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, and over, Cell Line, Tumor, Mutation, Missense, Genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/31n233jnTest

المؤلفون: Rademakers, Rosa, Baker, Matt, Gass, Jennifer, Adamson, Jennifer, Huey, Edward D., Momeni, Parastoo, Spina, Salvatore, Coppola, Giovanni, Karydas, Anna M., Stewart, Heather, Johnson, Nancy, Hsiung, Ging Yuek, Kelley, Brendan, Kuntz, Karen, Steinbart, Ellen, Wood, Elisabeth McCarty, Yu, Chang En, Josephs, Keith, Sorenson, Eric, Womack, Kyle B., Weintraub, Sandra, Pickering-Brown, Stuart M., Schofield, Peter R., Brooks, William S., Van Deerlin, Vivianna M., Snowden, Julie, Clark, Christopher M., Kertesz, Andrew, Boylan, Kevin, Ghetti, Bernardino, Neary, David, Schellenberg, Gerard D., Beach, Thomas G., Mesulam, Marsel, Mann, David, Grafman, Jordan, Mackenzie, Ian R., Feldman, Howard, Bird, Thomas, Petersen, Ron, Knopman, David, Boeve, Bradley, Geschwind, Dan H., Miller, Bruce, Wszolek, Zbigniew, Lippa, Carol, Bigio, Eileen H., Dickson, Dennis, Graff-Radford, Neill, Hutton, Mike

المصدر: Rademakers , R , Baker , M , Gass , J , Adamson , J , Huey , E D , Momeni , P , Spina , S , Coppola , G , Karydas , A M , Stewart , H , Johnson , N , Hsiung , G Y , Kelley , B , Kuntz , K , Steinbart , E , Wood , E M , Yu , C E , Josephs , K , Sorenson , E , Womack , K B , Weintraub , S , Pickering-Brown , S M , Schofield , P R ....

مصطلحات موضوعية: Age of Onset, Aged, Alleles, genetics: Alzheimer Disease, genetics: Aphasia, Primary Progressive, genetics: Apolipoproteins E, Cohort Studies, metabolism: DNA-Binding Proteins, epidemiology: Dementia, Female, Founder Effect, Genotype, Haplotypes, Heterozygote, Humans, pathology: Inclusion Bodies, genetics: Intercellular Signaling Peptides and Proteins, Male, epidemiology: Memory Disorders, Middle Aged, Mutation, epidemiology: Neurodegenerative Diseases, pathology: Neurofibrillary Tangles, pathology: Neurons, Phenotype, Polymorphism, Single Nucleotide, Retrospective Studies, metabolism: Ubiquitin

الإتاحة: https://doi.org/10.1016/S1474-4422Test(07)70221-1
https://research.manchester.ac.uk/en/publications/cca0f6b5-d609-431b-b58f-a9515cd06f27Test

المؤلفون: Gass, Jennifer, Cannon, Ashley, Mackenzie, Ian R, Boeve, Bradley, Baker, Matt, Adamson, Jennifer, Crook, Richard, Melquist, Stacey, Kuntz, Karen, Petersen, Ron, Josephs, Keith, Pickering-Brown, Stuart M, Graff-Radford, Neill, Uitti, Ryan, Dickson, Dennis, Wszolek, Zbigniew, Gonzalez, John, Beach, Thomas G, Bigio, Eileen, Johnson, Nancy, Weintraub, Sandra, Mesulam, Marsel, White, Charles L, Woodruff, Bryan, Caselli, Richard, Hsiung, Ging-Yuek, Feldman, Howard, Knopman, Dave, Hutton, Mike, Rademakers, Rosa

المصدر: Gass , J , Cannon , A , Mackenzie , I R , Boeve , B , Baker , M , Adamson , J , Crook , R , Melquist , S , Kuntz , K , Petersen , R , Josephs , K , Pickering-Brown , S M , Graff-Radford , N , Uitti , R , Dickson , D , Wszolek , Z , Gonzalez , J , Beach , T G , Bigio , E , Johnson , N , Weintraub , S , Mesulam , M , White , C L , Woodruff , B ....

مصطلحات موضوعية: Adult, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Brain Chemistry, Dementia, Founder Effect, Gene Dosage, Genotype, Humans, Intercellular Signaling Peptides and Proteins, Middle Aged, Mutation, Ubiquitin, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't, ResearchInstitutes_Networks_Beacons/02/05, Dementia@Manchester

الإتاحة: https://doi.org/10.1093/hmg/ddl241Test
https://research.manchester.ac.uk/en/publications/1dd1ec10-5581-4b87-99e6-bcee845f2deeTest

المؤلفون: Mackenzie, Ian R A, Baker, Matt, Pickering-Brown, Stuart, Hsiung, Ging-Yuek R, Lindholm, Caroline, Dwosh, Emily, Gass, Jennifer, Cannon, Ashley, Rademakers, Rosa, Hutton, Mike, Feldman, Howard H

المصدر: Mackenzie , I R A , Baker , M , Pickering-Brown , S , Hsiung , G-Y R , Lindholm , C , Dwosh , E , Gass , J , Cannon , A , Rademakers , R , Hutton , M & Feldman , H H 2006 , ' The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene ' , Brain : a journal of neurology , vol. 129 , no. Pt 11 , pp. 3081-90 . https://doi.org/10.1093/brain/awl271Test

مصطلحات موضوعية: Aged, Corpus Striatum, Dementia, Female, Hippocampus, Humans, Immunoenzyme Techniques, Inclusion Bodies, Intercellular Signaling Peptides and Proteins, Intranuclear Inclusion Bodies, Male, Middle Aged, Mutation, Neocortex, Retrospective Studies, Ubiquitin, Journal Article, Research Support, N.I.H., Extramural, Non-U.S. Gov't, ResearchInstitutes_Networks_Beacons/02/05, Dementia@Manchester

الإتاحة: https://doi.org/10.1093/brain/awl271Test
https://research.manchester.ac.uk/en/publications/d7a87336-7696-4ef5-a229-2ac78dc8856bTest

المؤلفون: Cannon, Ashley, Baker, Matthew, Boeve, Brad, Josephs, Keith, Knopman, David, Petersen, Ron, Parisi, Joseph, Dickison, Dennis, Adamson, Jennifer, Snowden, Julie, Neary, David, Mann, David, Hutton, Mike, Pickering-Brown, Stuart M.

المصدر: Cannon , A , Baker , M , Boeve , B , Josephs , K , Knopman , D , Petersen , R , Parisi , J , Dickison , D , Adamson , J , Snowden , J , Neary , D , Mann , D , Hutton , M & Pickering-Brown , S M 2006 , ' CHMP2B mutations are not a common cause of frontotemporal lobar degeneration ' , Neuroscience letters , vol. 398 , no. 1-2 , pp. 83-84 . https://doi.org/10.1016/j.neulet.2005.12.056Test

مصطلحات موضوعية: CHMP2B, Frontotemporal lobar degeneration, FTD, Mutation

الإتاحة: https://doi.org/10.1016/j.neulet.2005.12.056Test
https://research.manchester.ac.uk/en/publications/8804ce4c-24ab-4e3a-9ca2-68275cce312eTest

المؤلفون: Grover, Andrew^1,2, DeTure, Michael³, Yen, Shu-Hui³, Hutton, Mike¹ hutton.michael@mayo.edu

المصدر: Neuroscience Letters. Apr2002, Vol. 323 Issue 1, p33. 4p.

مصطلحات موضوعية: *GENETIC mutation, *EXONS (Genetics), *GENES, *DEMENTIA