Abhinaya Iyer Nichole E Lapointe Krzysztof Zielke Mariusz Berdynski Elmer Guzman Anna Barczak Małgorzata Chodakowska-Żebrowska Maria Barcikowska Stuart Feinstein Cezary Zekanowski
10.1371/journal.pone.0076409
PLoS One
2013 Sep 27;8(9):e76409.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24086739/
Frontotemporal Dementia / genetics Microtubules / metabolism Mutation, Missense / genetics tau Proteins / genetics tau Proteins / metabolism
Frontotemporal Dementia / genetics Microtubules / metabolism Mutation, Missense / genetics tau Proteins / genetics tau Proteins / metabolism Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Amino Acid Sequence Female Frontotemporal Dementia / pathology Humans Middle Aged Molecular Sequence Data Pedigree Poland Sequence Alignment Sequence Analysis, DNA MAPT protein, human tau Proteins
PMC3785453
24086739
A novel MAPT mutation, G55R, in a frontotemporal dementia patient leads to altered Tau function
2013