Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease-Reference-Cited by-同舟云学术

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Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease

Published:2019-12 Issue: Volume:84 Page:238.e19-238.e24
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Blanco Jose Antonio^ORCID,Alonso Adrian,Blanco Jorge,Rojo Esther,Tellería Juan José,Torres Maria Angeles,Uribe Fernando

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

Reference41 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. Ataxic variant of Alzheimer’s disease caused by Pro117Ala PSEN1 mutation;Anheim;J. Neurol. Neurosurg. Psychiatry,2007

3. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations;Bendl;PLoS Comput. Biol.,2014

4. No founder effect in three novel Alzheimer’s disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer’s Disease Study Group;Campion;J. Med. Genet.,1996

5. Genetic and epigenetic architecture of Alzheimer’s dementia;Cervera-Carles;Curr. Genet. Med. Rep.,2016

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene;International Journal of Molecular Sciences;2022-09-19

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