Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis by Bruno A. Benitez, Mark S. Sands

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Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases by Fabiana H.G. Farias, Bruno A. Benitez, Carlos Cruchaga

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Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration by Sidhartha Mahali, Rita Martinez, Melvin King, Anthony Verbeck, Oscar Harari, Bruno A. Benitez, Kanta Horie, Chihiro Sato, Sally Temple, Celeste M. Karch

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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

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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

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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

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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

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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

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Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers by Logan Brase, Shih-Feng You, Ricardo D’Oliveira Albanus, Jorge L. Del-Aguila, Yaoyi Dai, Brenna C. Novotny, Carolina Soriano-Tarraga, Taitea Dykstra, Maria Victoria Fernandez, John P. Budde, Kristy Bergmann, John C. Morris, Randall J. Bateman, Richard J. Perrin, Eric McDade, Chengjie Xiong, Alison M. Goate, Martin Farlow, Dominantly Inherited Alzheimer Network (DIAN), Greg T. Sutherland, Jonathan Kipnis, Celeste M. Karch, Bruno A. Benitez, Oscar Harari

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