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...

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Argitaratua izan da:Neurobiol Aging
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2020
Gaiak:
Article
Sarrera elektronikoa: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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