% alzhub.org topic: mutations % Source: https://alzhub.org/topic/mutations % 5 entries, in the order the page lists them. Built from alzhub.org's own records. % 0 entries have no readable author in the source record and carry no author field. @article{qiu2019-30958370, author = {Qiu, Q. and Shen, L. and Jia, L. and Wang, Q. and Li, F. and Li, Y. and Jia, J.}, title = {{A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2019}, doi = {10.3233/jad-181291}, pmid = {30958370}, url = {https://doi.org/10.3233/jad-181291} } @article{tang2018-30412504, author = {Tang, N. and Kepp, K. P.}, title = {{Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease}}, journal = {Journal of Alzheimer's disease : JAD}, year = {2018}, doi = {10.3233/jad-180829}, pmid = {30412504}, url = {https://doi.org/10.3233/jad-180829} } @article{keller2010-20628413, author = {Keller, L. and Welander, H. and Chiang, H. H. and Tjernberg, L. O. and Nennesmo, I. and Wallin, A. K. and Graff, C.}, title = {{The PSEN1 I143T mutation in a Swedish family with Alzheimer's disease: clinical report and quantification of Aβ in different brain regions}}, journal = {European journal of human genetics : EJHG}, year = {2010}, doi = {10.1038/ejhg.2010.107}, pmid = {20628413}, url = {https://doi.org/10.1038/ejhg.2010.107} } @article{herl2009-19281847, author = {Herl, L. and Thomas, A. V. and Lill, C. M. and Banks, M. and Deng, A. and Jones, P. B. and Spoelgen, R. and Hyman, B. T. and others}, title = {{Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase}}, journal = {Molecular and cellular neurosciences}, year = {2009}, doi = {10.1016/j.mcn.2009.02.008}, pmid = {19281847}, url = {https://doi.org/10.1016/j.mcn.2009.02.008} } @article{lindquist2008-18727676, author = {Lindquist, S. G. and Hasholt, L. and Bahl, J. M. and Heegaard, N. H. and Andersen, B. B. and Nørremølle, A. and Stokholm, J. and Schwartz, M. and others}, title = {{A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment}}, journal = {European journal of neurology}, year = {2008}, doi = {10.1111/j.1468-1331.2008.02256.x}, pmid = {18727676}, url = {https://doi.org/10.1111/j.1468-1331.2008.02256.x} }