Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Gerard, Schellenberg"'
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by problems with movement, balance, and cognition. PSP differs from Alzheimer’s disease (AD) and other diseases, displaying abnormal microtubule-associate
Externí odkaz:
https://doaj.org/article/07eaa87799dd4d0f92bc88b303182da0
Autor:
Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Günter U. Höglinger, Ulrich Müller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, PSP Genetics Study Group, John F. Crary, Adam Naj
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/00e4e9b861df4fde8b25166bf80aa5f6
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2023)
Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer’s disease (AD) have been discovered by large scale genome-wide association studies (GWASs). However, only a small portion of the genetic component of AD can be explained by SNPs
Externí odkaz:
https://doaj.org/article/abfd877430f44493951cfe31de08efe5
Autor:
Diane Xue, William S. Bush, Alan E. Renton, Edoardo A. Marcora, Joshua C. Bis, Brian W. Kunkle, The Alzheimer's Disease Sequencing Project, Eric Boerwinkle, Anita L. DeStefano, Lindsay Farrer, Alison Goate, Richard Mayeux, Margaret Pericak‐Vance, Gerard Schellenberg, Sudha Seshadri, Ellen Wijsman, Jonathan L. Haines, Elizabeth E. Blue
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
Abstract Introduction Genes implicated by genome‐wide association studies and family‐based studies of Alzheimer's disease (AD) are largely discordant. We hypothesized that genes identified by sequencing studies like the Alzheimer's Disease Sequen
Externí odkaz:
https://doaj.org/article/a9dabf1346b743b9b46a5c25aef8dddc
Autor:
Jaeyoon Chung, Xiaoling Zhang, Mariet Allen, Xue Wang, Yiyi Ma, Gary Beecham, Thomas J. Montine, Steven G. Younkin, Dennis W. Dickson, Todd E. Golde, Nathan D. Price, Nilüfer Ertekin-Taner, Kathryn L. Lunetta, Jesse Mez, Alzheimer’s Disease Genetics Consortium, Richard Mayeux, Jonathan L. Haines, Margaret A. Pericak-Vance, Gerard Schellenberg, Gyungah R. Jun, Lindsay A. Farrer
Publikováno v:
Alzheimer’s Research & Therapy, Vol 10, Iss 1, Pp 1-12 (2018)
Abstract Background Simultaneous consideration of two neuropathological traits related to Alzheimer’s disease (AD) has not been attempted in a genome-wide association study. Methods We conducted genome-wide pleiotropy analyses using association sum
Externí odkaz:
https://doaj.org/article/a58607a50c8d49d3aa6af148bdb402bb
Autor:
Anja Soldan, Abhay Moghekar, Keenan A. Walker, Corinne Pettigrew, Xirui Hou, Hanzhang Lu, Michael I. Miller, Alfonso Alfini, Marilyn Albert, Desheng Xu, Mei-Fang Xiao, Paul Worley, The BIOCARD Research Team, John Csernansky, David Holtzman, David Knopman, Walter Kukull, Kevin Grimm, John Hsiao, Laurie Ryan, Constantine Lyketsos, Carlos Pardo, Gerard Schellenberg, Leslie Shaw, Madhav Thambisetty, John Trojanowski
Publikováno v:
Frontiers in Aging Neuroscience, Vol 11 (2019)
Intrinsic functional connectivity of large-scale brain networks has been shown to change with aging and Alzheimer’s disease (AD). These alterations are thought to reflect changes in synaptic function, but the underlying biological mechanisms are po
Externí odkaz:
https://doaj.org/article/3d43d45952624d7faa843d0f79b3448b
Autor:
Dana Godrich, Eden R. Martin, Gerard Schellenberg, Margaret A. Pericak‐Vance, Michael Cuccaro, William K. Scott, Walter Kukull, Thomas Montine, Gary W. Beecham
Publikováno v:
Alzheimer'sdementia : the journal of the Alzheimer's Association. 18(12)
Alzheimer disease (AD) and related dementias are characterized by damage caused by neuropathological lesions in the brain. These include AD lesions (plaques and tangles) and non-AD lesions such as vascular injury or Lewy bodies. We report here an ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945df535de5053587695d65b9b1d97f3
https://pubmed.ncbi.nlm.nih.gov/35142102
https://pubmed.ncbi.nlm.nih.gov/35142102
Autor:
Badri N, Vardarajan, Dolly, Reyes-Dumeyer, Angel L, Piriz, Rafael A, Lantigua, Martin, Medrano, Diones, Rivera, Ivonne Z, Jiménez-Velázquez, Eden, Martin, Margaret A, Pericak-Vance, William, Bush, Lindsay, Farrer, Jonathan L, Haines, Li-San, Wang, Yuk Yee, Leung, Gerard, Schellenberg, Walter, Kukull, Philip, De Jager, David A, Bennett, Julie A, Schneider, Richard, Mayeux
Publikováno v:
Alzheimer'sdementia : the journal of the Alzheimer's Association. 18(12)
Progranulin (GRN) mutations occur in frontotemporal lobar degeneration (FTLD) and in Alzheimer's disease (AD), often with TDP-43 pathology.We determined the frequency of rs5848 and rare, pathogenic GRN mutations in two autopsy and one family cohort.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::66602b44148e6db9915cde774896e13d
https://pubmed.ncbi.nlm.nih.gov/35258170
https://pubmed.ncbi.nlm.nih.gov/35258170
Autor:
Emily Greenfest-Allen, Otto Valladares, Pavel P. Kuksa, Prabhakaran Gangadharan, Wan-Ping Lee, Jeffrey Cifello, Zivadin Katanic, Amanda B. Kuzma, Nicholas Wheeler, William S. Bush, Yuk Yee Leung, Gerard Schellenberg, Christian J. Stoeckert, Li-San Wang
INTRODUCTION: The NIAGADS Alzheimer9s Genomics Database is an interactive knowledgebase for AD genetics that provides access to GWAS summary statistics datasets deposited at NIAGADS, a national genetics data repository for AD and related dementia (AD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a740b3bdbca6da559dec0e5882173082
https://doi.org/10.1101/2020.09.23.310276
https://doi.org/10.1101/2020.09.23.310276
Autor:
Yuetiva, Deming, Zeran, Li, Manav, Kapoor, Oscar, Harari, Jorge L, Del-Aguila, Kathleen, Black, David, Carrell, Yefei, Cai, Maria Victoria, Fernandez, John, Budde, Shengmei, Ma, Benjamin, Saef, Bill, Howells, Kuan-Lin, Huang, Sarah, Bertelsen, Anne M, Fagan, David M, Holtzman, John C, Morris, Sungeun, Kim, Andrew J, Saykin, Philip L, De Jager, Marilyn, Albert, Abhay, Moghekar, Richard, O'Brien, Matthias, Riemenschneider, Ronald C, Petersen, Kaj, Blennow, Henrik, Zetterberg, Lennart, Minthon, Vivianna M, Van Deerlin, Virginia Man-Yee, Lee, Leslie M, Shaw, John Q, Trojanowski, Gerard, Schellenberg, Jonathan L, Haines, Richard, Mayeux, Margaret A, Pericak-Vance, Lindsay A, Farrer, Elaine R, Peskind, Ge, Li, Antonio F, Di Narzo, John S K, Kauwe, Alison M, Goate, Carlos, Cruchaga
Publikováno v:
Acta Neuropathologica. 133:839-856
More than 20 genetic loci have been associated with risk for Alzheimer’s disease (AD), but reported genome-wide significant loci do not account for all the estimated heritability and provide little information about underlying biological mechanisms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac1c53212dbe2a6e0b6c2545bf48a6d
https://doi.org/10.1007/s00401-017-1685-y
https://doi.org/10.1007/s00401-017-1685-y