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

بواسطة Benitez, Bruno A., Sands, Mark S.
الحاوية / القاعدة Sci Rep (2017)

TREM2 and Parkinson’s Disease

بواسطة Benitez, Bruno A., Cruchaga C, Carlos
الحاوية / القاعدة N Engl J Med (2013)

Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease?

بواسطة Deming, Yuetiva, Li, Zeran, Benitez, Bruno A., Cruchaga, Carlos
الحاوية / القاعدة Expert Opin Ther Targets (2018)

Variants in GBA, SNCA, and MAPT Influence Parkinson Disease Risk, Age at Onset, and Progression

بواسطة Davis, Albert A., Andruska, Kristin M., Benitez, Bruno A., Racette, Brad A., Perlmutter, Joel S., Cruchaga, Carlos
الحاوية / القاعدة Neurobiol Aging (2015)

Cell-autonomous expression of the acid hydrolase galactocerebrosidase

بواسطة Mikulka, Christina R., Dearborn, Joshua T., Benitez, Bruno A., Strickland, Amy, Liu, Lin, Milbrandt, Jeffrey, Sands, Mark S.
الحاوية / القاعدة Proc Natl Acad Sci U S A (2020)

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

بواسطة Jin, Sheng Chih, Pastor, Pau, Cooper, Breanna, Cervantes, Sebastian, Benitez, Bruno A, Razquin, Cristina, Goate, Alison, Cruchaga, Carlos
منشور في 2012

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

بواسطة Benitez, Bruno A., Cairns, Nigel J., Schmidt, Robert E., Morris, John C., Norton, Joanne B., Cruchaga, Carlos, Sands, Mark S.
الحاوية / القاعدة Acta Neuropathol Commun (2015)

TMEM230 IN PARKINSON’S DISEASE

بواسطة Ibanez, Laura, Dube, Umber, Budde, John, Black, Kathleen, Medvedeva, Alexandra, Davis, Albert A., Perlmutter, Joel S., Benitez, Bruno A., Cruchaga, Carlos
الحاوية / القاعدة Neurobiol Aging (2017)

Parkinson Disease is not associated with C9ORF72 repeat expansions

بواسطة Harms, Matthew B., Neumann, Drexel, Benitez, Bruno A, Cooper, Breanna, Carrell, David, Racette, Brad A., Perlmutter, Joel S., Goate, Alison, Cruchaga, Carlos
منشور في 2012

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis

بواسطة Benitez, Bruno A., Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C., Sands, Mark S., Goate, Alison, Cruchaga, Carlos
منشور في 2011

Functional reduction of SK3-mediated currents precedes AMPA-receptor-mediated excitotoxicity in dopaminergic neurons

بواسطة Benítez, Bruno A., Belálcazar, Helen M., Anastasía, Agustín, Mamah, Daniel T., Zorumski, Charles F., Mascó, Daniel H., Herrera, Daniel G., de Erausquin, Gabriel A.
الحاوية / القاعدة Neuropharmacology (2010)

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

بواسطة Benitez, Bruno A., Davis, Albert A., Jin, Sheng Chih, Ibanez, Laura, Ortega-Cubero, Sara, Pastor, Pau, Choi, Jiyoon, Cooper, Breanna, Perlmutter, Joel S., Cruchaga, Carlos
الحاوية / القاعدة Mol Neurodegener (2016)

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer’s disease

بواسطة Qin, Wei, Zhou, Aihong, Zuo, Xiumei, Jia, Longfei, Li, Fangyu, Wang, Qi, Li, Ying, Wei, Yiping, Jin, Hongmei, Cruchaga, Carlos, Benitez, Bruno A, Jia, Jianping
الحاوية / القاعدة Hum Mol Genet (2021)

Overlapping Genetic Architecture between Parkinson Disease and Melanoma

بواسطة Dube, Umber, Ibanez, Laura, Budde, John P, Benitez, Bruno A, Davis, Albert A, Harari, Oscar, Iles, Mark M, Law, Matthew H, Brown, Kevin M, Cruchaga, Carlos
الحاوية / القاعدة Acta Neuropathol (2019)

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

بواسطة Ibanez, Laura, Dube, Umber, Saef, Benjamin, Budde, John, Black, Kathleen, Medvedeva, Alexandra, Del-Aguila, Jorge L., Davis, Albert A., Perlmutter, Joel S., Harari, Oscar, Benitez, Bruno A., Cruchaga, Carlos
الحاوية / القاعدة BMC Neurol (2017)

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

بواسطة Ibanez, Laura, Dube, Umber, Davis, Albert A., Fernandez, Maria V., Budde, John, Cooper, Breanna, Diez-Fairen, Monica, Ortega-Cubero, Sara, Pastor, Pau, Perlmutter, Joel S., Cruchaga, Carlos, Benitez, Bruno A.
الحاوية / القاعدة Front Neurosci (2018)

Coding variants in TREM2 increase risk for Alzheimer's disease

بواسطة Jin, Sheng Chih, Benitez, Bruno A., Karch, Celeste M., Cooper, Breanna, Skorupa, Tara, Carrell, David, Norton, Joanne B., Hsu, Simon, Harari, Oscar, Cai, Yefei, Bertelsen, Sarah, Goate, Alison M., Cruchaga, Carlos
منشور في 2014

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

بواسطة Benitez, Bruno A., Karch, Celeste M., Cai, Yefei, Jin, Sheng Chih, Cooper, Breanna, Carrell, David, Bertelsen, Sarah, Chibnik, Lori, Schneider, Julie A., Bennett, David A., Fagan, Anne M., Holtzman, David, Morris, John C., Goate, Alison M., Cruchaga, Carlos
منشور في 2013

The TREM2 variant p.R47H is a risk factor for sporadic amyotrophic lateral sclerosis

بواسطة Cady, Janet, Koval, Erica D., Benitez, Bruno A., Zaidman, Craig, Jockel-Balsarotti, Jennifer, Allred, Peggy, Baloh, Robert H., Ravits, John, Simpson, Ericka, Appel, Stanley H., Pestronk, Alan, Goate, Alison M., Miller, Timothy M., Cruchaga, Carlos, Harms, Matthew B.
منشور في 2014

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

بواسطة Del-Aguila, Jorge L., Benitez, Bruno A., Li, Zeran, Dube, Umber, Mihindukulasuriya, Kathie A., Budde, John P., Farias, Fabiana H. G., Fernández, Maria Victoria, Ibanez, Laura, Jiang, Shan, Perrin, Richard J., Cairns, Nigel J., Morris, John C., Harari, Oscar, Cruchaga, Carlos
الحاوية / القاعدة Mol Neurodegener (2019)