Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease-Reference-Cited by-同舟云学术

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Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease

Published:2024-07-24 Issue:1 Volume:148 Page:
ISSN:1432-0533
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

McDonough Gannon A.^ORCID,Cheng Yuchen^ORCID,Morillo Katherine S.,Doan Ryan N.,Zhou Zinan,Kenny Connor J.^ORCID,Foutz Aaron,Kim Chae^ORCID,Cohen Mark L.,Appleby Brian S.^ORCID,Walsh Christopher A.^ORCID,Safar Jiri G.,Huang August Yue^ORCID,Miller Michael B.^ORCID

Funder

National Center for Emerging and Zoonotic Infectious Diseases

National Institute of Neurological Disorders and Stroke

National Institute on Aging

Doris Duke Charitable Foundation

BrightFocus Foundation

Howard Hughes Medical Institute

Alzheimer's Association

Brigham and Women's Hospital

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00401-024-02774-2.pdf

Reference90 articles.

1. Abascal F, Harvey LMR, Mitchell E, Lawson ARJ, Lensing SV, Ellis P et al (2021) Somatic mutation landscapes at single-molecule resolution. Nature 593:405–410. https://doi.org/10.1038/s41586-021-03477-4

2. Appleby BS, Appleby KK, Crain BJ, Onyike CU, Wallin MT, Rabins PV (2009) Characteristics of established and proposed sporadic Creutzfeldt–Jakob disease variants. Arch Neurol 66:208–215. https://doi.org/10.1001/archneurol.2008.533

3. Appleby BS, Appleby KK, Rabins PV (2007) Does the presentation of Creutzfeldt–Jakob disease vary by age or presumed etiology? A meta-analysis of the past 10 years. J Neuropsychiatry Clin Neurosci 19:428–435. https://doi.org/10.1176/jnp.2007.19.4.428

4. Azevedo FAC, Carvalho LRB, Grinberg LT, Farfel JM, Ferretti REL, Leite REP et al (2009) Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain. J Comp Neurol 513:532–541. https://doi.org/10.1002/cne.21974

5. Bae JH, Liu R, Roberts E, Nguyen E, Tabrizi S, Rhoades J et al (2023) Single duplex DNA sequencing with CODEC detects mutations with high sensitivity. Nat Genet 55:871–879. https://doi.org/10.1038/s41588-023-01376-0

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