Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis

by Bruno A. Benitez, Mark S. Sands
Published 2017-07-01

Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases

by Fabiana H.G. Farias, Bruno A. Benitez, Carlos Cruchaga
Published 2021-04-01

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

by Bruno A Benitez, David Alvarado, Yefei Cai, Kevin Mayo, Sumitra Chakraverty, Joanne Norton, John C Morris, Mark S Sands, Alison Goate, Carlos Cruchaga
Published 2011-01-01

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

by 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
Published 2017-11-01

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

by Laura Ibanez, Umber Dube, Albert A. Davis, Maria V. Fernandez, John Budde, Breanna Cooper, Monica Diez-Fairen, Monica Diez-Fairen, Sara Ortega-Cubero, Sara Ortega-Cubero, Pau Pastor, Pau Pastor, Joel S. Perlmutter, Joel S. Perlmutter, Carlos Cruchaga, Bruno A. Benitez
Published 2018-04-01

TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers

by Jorge L. Del-Aguila, Bruno A. Benitez, Zeran Li, Umber Dube, Kathie A. Mihindukulasuriya, John P. Budde, Fabiana H. G. Farias, Maria Victoria Fernández, Laura Ibanez, Shan Jiang, Richard J. Perrin, Nigel J. Cairns, John C. Morris, Oscar Harari, Carlos Cruchaga
Published 2019-05-01

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

by 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
Published 2019-08-01

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

by Bruno A Benitez, Celeste M Karch, Yefei Cai, Sheng Chih Jin, Breanna Cooper, David Carrell, Sarah Bertelsen, Lori Chibnik, Julie A Schneider, David A Bennett, Alzheimer's Disease Neuroimaging Initiative, Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD, Anne M Fagan, David Holtzman, John C Morris, Alison M Goate, Carlos Cruchaga
Published 2013-01-01

Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

by Laura Ibanez, Jorge A. Bahena, Chengran Yang, Umber Dube, Fabiana H. G. Farias, John P. Budde, Kristy Bergmann, Carol Brenner-Webster, John C. Morris, Richard J. Perrin, Nigel J. Cairns, John O’Donnell, Ignacio Álvarez, Monica Diez-Fairen, Miquel Aguilar, Rebecca Miller, Albert A. Davis, Pau Pastor, Paul Kotzbauer, Meghan C. Campbell, Joel S. Perlmutter, Herve Rhinn, Oscar Harari, Carlos Cruchaga, Bruno A. Benitez
Published 2020-11-01