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

Publication: Journal Article

Benitez, Bruno A, Nigel J Cairns, Robert E Schmidt, John C Morris, Joanne B Norton, Carlos Cruchaga, and Mark S Sands. 2015. “Clinically Early-Stage CSPα Mutation Carrier Exhibits Remarkable Terminal Stage Neuronal Pathology With Minimal Evidence of Synaptic Loss.”. Acta Neuropathologica Communications 3: 73.

Parkinson disease is not associated with C9ORF72 repeat expansions.

Publication: Journal Article

Harms, Matthew B, Drexel Neumann, Bruno A Benitez, Breanna Cooper, David Carrell, Brad A Racette, Joel S Perlmutter, Alison Goate, and Carlos Cruchaga. 2013. “Parkinson Disease Is Not Associated With C9ORF72 Repeat Expansions.”. Neurobiology of Aging 34 (5): 1519.e1-2.

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

Publication: Journal Article

Qin, Wei, Aihong Zhou, Xiumei Zuo, Longfei Jia, Fangyu Li, Qi Wang, Ying Li, et al. 2021. “Exome Sequencing Revealed PDE11A As a Novel Candidate Gene for Early-Onset Alzheimer’s Disease.”. Human Molecular Genetics 30 (9): 811-22.

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers.

Publication: Journal Article

Brase, Logan, Shih-Feng You, Ricardo D’Oliveira Albanus, Jorge L Del-Aguila, Yaoyi Dai, Brenna C Novotny, Carolina Soriano-Tarraga, et al. 2023. “Single-Nucleus RNA-Sequencing of Autosomal Dominant Alzheimer Disease and Risk Variant Carriers.”. Nature Communications 14 (1): 2314.

Using global team science to identify genetic parkinson's disease worldwide.

Publication: Journal Article

Vollstedt, Eva-Juliane, Meike Kasten, Christine Klein, and MJFF Global Genetic Parkinson’s Disease Study Group. 2019. “Using Global Team Science to Identify Genetic Parkinson’s Disease Worldwide.”. Annals of Neurology 86 (2): 153-57.

Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer’s disease

Publication: Journal Article

Benitez, Bruno A., Abdallah M. Eteleeb, Oscar Harari, Brenna C. Novotny, Carolina Soriano Tarraga, Christopher Sohn, Eliza Dhungel, et al. 2024. “Brain High-Throughput Multi-Omics Data Reveal Molecular Heterogeneity in Alzheimer’s Disease”. PLOS Biology.

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

Blog: July 20, 2023

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Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

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Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers | Nature Communications

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