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122 results found

TREM2 is associated with increased risk for Alzheimer's disease in African Americans.

Publication: Journal Article

Jin, Sheng Chih, Minerva M Carrasquillo, Bruno A Benitez, Tara Skorupa, David Carrell, Dwani Patel, Sarah Lincoln, et al. 2015. “TREM2 Is Associated With Increased Risk for Alzheimer’s Disease in African Americans.”. Molecular Neurodegeneration 10: 19.

Coding variants in TREM2 increase risk for Alzheimer's disease.

Publication: Journal Article

Jin, Sheng Chih, Bruno A Benitez, Celeste M Karch, Breanna Cooper, Tara Skorupa, David Carrell, Joanne B Norton, et al. 2014. “Coding Variants in TREM2 Increase Risk for Alzheimer’s Disease.”. Human Molecular Genetics 23 (21): 5838-46.

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

Publication: Journal Article

Cady, Janet, Erica D Koval, Bruno A Benitez, Craig Zaidman, Jennifer Jockel-Balsarotti, Peggy Allred, Robert H Baloh, et al. 2014. “TREM2 Variant P.R47H As a Risk Factor for Sporadic Amyotrophic Lateral Sclerosis.”. JAMA Neurology 71 (4): 449-53.

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

Publication: Journal Article

Klionsky, Daniel J, Amal Kamal Abdel-Aziz, Sara Abdelfatah, Mahmoud Abdellatif, Asghar Abdoli, Steffen Abel, Hagai Abeliovich, et al. 2021. “Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (4th Edition)1.”. Autophagy 17 (1): 1-382.

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Cellular Atlas of Parkinson Disease

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Detailed molecular characterization of cell-specific transcriptomic states throughout multiple brain regions beyond nigrostriatal dopaminergic degeneration will provide mechanistic insights into motor and non-motor PD symptoms. We will integrate neuropathology and snRNA-Seq data to identify a...

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Haploinsufficiency of lysosomal enzyme genes in Alzheimer’s disease

Publication: Journal Article

Benitez, Bruno A., Clare E. Wallace, Maulikkumar Patel, Niko-Petteri Nykanen, Carla M. Yuede, Samantha L. Eaton, Cyril Pottier, et al. Submitted. “Haploinsufficiency of Lysosomal Enzyme Genes in Alzheimer’s Disease”. BioXriv, Submitted.

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

Publication: Journal Article

Benitez, BA, Alvarado D, Y Cai, K Mato, and S Chakraverty. 2011. “Exome-Sequencing Confirms DNAJC5 Mutations As Cause of Adult Neuronal Ceroid-Lipofuscinosis”. PLoS One.