一名20岁患有与G114V变异相关的朊病毒病的非裔美国女性。 - Suppr

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超能文献

Twenty-year-old African American woman with prion disease associated with the G114V variant.

作者信息

Margolesky Jason, Saporta Mario

机构信息

Miller School of Medicine, University of Miami, FL.

出版信息

Neurol Genet. 2018 Mar 22;4(2):e229. doi: 10.1212/NXG.0000000000000229. eCollection 2018 Apr.

DOI:10.1212/NXG.0000000000000229

PMID:29577079

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5864505/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d09/5864505/a5733949a734/NG2017007005FF1.jpg

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引用本文的文献

Case Report: Genetic Creutzfeldt-Jakob Disease With a G114V Mutation and One Octapeptide Repeat Deletion as a Mimic of Frontotemporal Dementia.

Front Neurol. 2022 Jun 24;13:888309. doi: 10.3389/fneur.2022.888309. eCollection 2022.

本文引用的文献

Kuru: genes, cannibals and neuropathology.

J Neuropathol Exp Neurol. 2012 Feb;71(2):92-103. doi: 10.1097/NEN.0b013e3182444efd.

Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family.

Acta Neurol Scand. 2010 Jun;121(6):377-83. doi: 10.1111/j.1600-0404.2009.01236.x. Epub 2009 Dec 17.

Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series.

J Med Case Rep. 2008 Oct 17;2:331. doi: 10.1186/1752-1947-2-331.

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.

Neurology. 2005 Apr 26;64(8):1455-7. doi: 10.1212/01.WNL.0000158618.39527.93.

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