Evaluating the causality of novel sequence variants in the prion protein gene by example-Reference-Cited by-同舟云学术

Evaluating the causality of novel sequence variants in the prion protein gene by example

Published:2018-11 Issue: Volume:71 Page:265.e1-265.e7
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Mok Tze How,Koriath Carolin^ORCID,Jaunmuktane Zane,Campbell Tracy,Joiner Susan,Wadsworth Jonathan D.F.,Hosszu Laszlo L.P.,Brandner Sebastian,Parvez Ambereen,Truelsen Thomas Clement,Lund Eva Løbner,Saha Romi,Collinge John,Mead Simon^ORCID

Funder

Medical Research Council

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference32 articles.

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3. Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins;Asante;J. Gen. Virol.,2009

4. Transmission properties of human PrP 102L prions challenge the relevance of mouse models of GSS;Asante;PLoS Pathog.,2015

5. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC prion unit;Beck;Hum. Mutat.,2010

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1. Genetic counseling for prion disease: Updates and best practices;Genetics in Medicine;2022-10

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3. Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion;Viruses;2021-09-08

4. Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease;BMC Neurology;2021-06-28

5. Genetic risk factors for Creutzfeldt-Jakob disease;Neurobiology of Disease;2020-08