Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)-Reference-Cited by-同舟云学术

Genetic origin of a large family with a novel PSEN1 mutation (Ile416Thr)

Published:2019-02-08 Issue:5 Volume:15 Page:709-719
ISSN:1552-5260
Container-title:Alzheimer's & Dementia
language:en
Short-container-title:Alzheimer's & Dementia

Author:

Ramirez Aguilar Laura¹,Acosta‐Uribe Juliana¹²³,Giraldo Margarita M.¹,Moreno Sonia¹,Baena Ana¹,Alzate Diana¹,Cuastumal Rosario¹,Aguillón David¹,Madrigal Lucía¹,Saldarriaga Amanda¹,Navarro Alexander¹,Garcia Gloria P.¹,Aguirre‐Acevedo Daniel C.¹,Geier Ethan G.⁴,Cochran J. Nicholas⁵,Quiroz Yakeel T.⁶,Myers Richard M.⁵,Yokoyama Jennifer S.⁴,Kosik Kenneth S.²³,Lopera Francisco¹

Affiliation:

1. Grupo de Neurociencias de AntioquiaSchool of MedicineUniversidad de AntioquiaMedellínAntioquiaColombia

2. Neuroscience Research InstituteUniversity of CaliforniaSanta BarbaraCAUSA

3. Department of Molecular Cellular and Developmental BiologyUniversity of CaliforniaSanta BarbaraCAUSA

4. Department of NeurologyUniversity of CaliforniaSan FranciscoCAUSA

5. HudsonAlpha Institute for BiotechnologyHuntsvilleALUSA

6. Departments of Psychiatry and NeurologyMassachusetts General HospitalHarvard Medical SchoolBostonMAUSA

Funder

Universidad de Antioquia

Larry L. Hillblom Foundation

National Institute on Aging

Comité para el Desarrollo de la Investigación

Rainwater Charitable Foundation

John Douglas French Alzheimer's Foundation

National Institute of Health Office of the Director

Publisher

Wiley

Subject

Psychiatry and Mental health,Cellular and Molecular Neuroscience,Geriatrics and Gerontology,Clinical Neurology,Developmental Neuroscience,Health Policy,Epidemiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.jalz.2018.12.010

Reference33 articles.

1. Genomic variants, genes, and pathways of Alzheimer's disease: An overview

2. Locus‐specific mutation databases for neurodegenerative brain diseases

3. Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

4. Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

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5. Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology;Scientific Reports;2023-08-08