Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia

MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioral variant FTD and/or parkinsonism clinically. We describe 2 novel MAPT mutations, D252V and G389_I392del, each prese...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurobiol Aging
Prif Awduron: Shafei, Rachelle, Woollacott, Ione O.C., Mummery, Catherine J., Bocchetta, Martina, Guerreiro, Rita, Bras, Jose, Warren, Jason D., Lashley, Tammaryn, Jaunmuktane, Zane, Rohrer, Jonathan D.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2020
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7082764/
https://ncbi.nlm.nih.gov/pubmed/31870644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2019.11.009
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