A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

Autor: Jorge L. Del-Aguila, Zeran Li, Umber Dube, Kathie A. Mihindukulasuriya, John P. Budde, Maria Victoria Fernandez, Laura Ibanez, Joseph Bradley, Fengxian Wang, Kristy Bergmann, Richard Davenport, John C. Morris, David M. Holtzman, Richard J. Perrin, Bruno A. Benitez, Joseph Dougherty, Carlos Cruchaga, Oscar Harari

Publikováno v: Alzheimer’s Research & Therapy, Vol 11, Iss 1, Pp 1-16 (2019)

Abstract Background Alzheimer’s disease (AD) is the most common form of dementia. This neurodegenerative disorder is associated with neuronal death and gliosis heavily impacting the cerebral cortex. AD has a substantial but heterogeneous genetic co

Externí odkaz: https://doaj.org/article/c1ad578940f34bcf889aae4a15e03c01

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

Autor: Taylor J. Maxwell, Chris Corcoran, Jorge L. del-Aguila, John P. Budde, Yuetiva Deming, Carlos Cruchaga, Alison M. Goate, John S. K. Kauwe, Alzheimer’s Disease Neuroimaging Initiative

Publikováno v: Alzheimer’s Research & Therapy, Vol 10, Iss 1, Pp 1-9 (2018)

Abstract Background A relationship quantitative trait locus exists when the correlation between multiple traits varies by genotype for that locus. Relationship quantitative trait loci (rQTL) are often involved in gene-by-gene (G×G) interactions or g

Externí odkaz: https://doaj.org/article/d90653609c0a40dd8a845db54ec01076

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels

Autor: Laura Ibanez, Umber Dube, Benjamin Saef, John Budde, Kathleen Black, Alexandra Medvedeva, Jorge L. Del-Aguila, Albert A. Davis, Joel S. Perlmutter, Oscar Harari, Bruno A. Benitez, Carlos Cruchaga

Publikováno v: BMC Neurology, Vol 17, Iss 1, Pp 1-9 (2017)

Abstract Background The genetic architecture of Parkinson’s Disease (PD) is complex and not completely understood. Multiple genetic studies to date have identified multiple causal genes and risk loci. Nevertheless, most of the expected genetic heri

Externí odkaz: https://doaj.org/article/83ed4ef373d84b18a45accc46baee481

Multi-Ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke

Autor: Laura Ibanez, Laura Heitsch, Caty Carrera, Fabiana H G Farias, Jorge L Del Aguila, Rajat Dhar, John Budde, Kristy Bergmann, Joseph Bradley, Oscar Harari, Chia Ling Phuah, Robin Lemmens, Alessandro A Viana Oliveira Souza, Francisco Moniche, Antonio Cabezas-Juan, Juan Francisco Arenillas, Jerzy Krupinksi, Natalia Cullell, Nuria Torres-Aguila, Elena Muiño, Jara Cárcel-Márquez, Joan Marti-Fabregas, Raquel Delgado-Mederos, Rebeca Marin-Bueno, Alejandro Hornick, Cristofol Vives-Bauza, Rosa Diaz Navarro, Silvia Tur, Carmen Jimenez, Victor Obach, Tomas Segura, Gemma Serrano-Heras, Jong Won Chung, Jaume Roquer, Carol Soriano-Tarraga, Eva Giralt-Steinhauer, Marina Mola-Caminal, Joanna Pera, Katarzyna Lapicka-Bodzioch, Justyna Derbisz, Antoni Davalos, Elena Lopez-Cancio, Lucia Muñoz, Turgut Tatlisumak, Carlos Molina, Marc Ribo, Alejandro Bustamante, Tomas Sobrino, Jose Castillo-Sanchez, Francisco Campos, Emilio Rodriguez-Castro, Susana Arias-Rivas, Manuel Rodríguez-Yáñez, Christina Herbosa, Andria L Ford, Alonso Gutierrez-Romero, Rodrigo Uribe-Pacheco, Antonio Arauz, Iscia Lopes-Cendes, Theodore Lowenkopf, Miguel A Barboza, Hajar Amini, Boryana Stamova, Bradley P Ander, Frank R Sharp, Gyeong Moon Kim, Oh Young Bang, Jordi Jimenez-Conde, Agnieszka Slowik, Daniel Stribian, Ellen A Tsai, Linda C Burkly, Joan Montaner, Israel Fernandez-Cadenas, Jin Moo Lee, Carlos Cruchaga

Publikováno v: BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Brain : a journal of neurology, vol 145, iss 7
Brain
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol

Funding: This work was supported by grants from the Emergency Medicine Foundation Career Development Grant; AHA Mentored Clinical & Population Research Award (14CRP18860027); NIH/NINDS-R01-NS085419 (C.C., J.M.L.); NIH/NINDS-R37-NS107230, NIH/NINDS U2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06fffc2f858e2f88ba923cf23528639f
https://hdl.handle.net/10023/27061

Alzheimers Dement

Autor: Lori B. Chibnik, Céline Bellenguez, Philippe Amouyel, Andrew J. Saykin, Alden L. Gross, Shubhabrata Mukherjee, Stephen J. Newhouse, Paul K. Crane, Ryan Koesterer, Jorge L. Del-Aguila, Richard Sherva, Leanne Munsie, Ashley R. Winslow, David A. Bennett, Robert C. Green, Carole Dufouil, Richard Mayeux, John S. K. Kauwe, Carlos Cruchaga, Lindsay A. Farrer

Publikováno v: Alzheimer's and Dementia
Alzheimer's and Dementia, Elsevier, 2020, 16 (8), pp.1134-1145. ⟨10.1002/alz.12106⟩
Alzheimers Dement

INTRODUCTION Variability exists in the disease trajectories of Alzheimer's disease (AD) patients. We performed a genome-wide association study to examine rate of cognitive decline (ROD) in patients with AD. METHODS We tested for interactions between

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c5ff63a3c79dd207973bb477efe9212
https://doi.org/10.1002/alz.12106