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2 articles related to "Psen1 Gene"

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Articles

Original Research

Published on 05 May 2020

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

in Neurogenetics

Chunlin You
Weike Zeng
Lingna Deng
Zhihao Lei
Xinyi Gao
Victor Wei Zhang
Yidong Wang

Frontiers in Neurology

doi 10.3389/fneur.2020.00319

3,594 views
6 citations

Case Report

Published on 11 Dec 2019

A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD

in Neuroimaging

Kaloyan R. Stoychev
Maya Stoimenova-Popova
Petranka Chumpalova
Lilia Ilieva
Mohamed Swamad
Zornitsa Kamburova-Martinova

Frontiers in Psychiatry

doi 10.3389/fpsyt.2019.00857

6,385 views
5 citations