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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
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1989 1
1990 1
1991 3
1992 4
1993 5
1994 2
1995 5
1996 4
1997 6
2000 4
2001 3
2002 3
2003 1
2004 3
2005 2
2006 4
2007 3
2008 6
2009 5
2010 1
2011 4
2012 3
2013 3
2014 2
2015 5
2016 6
2017 1
2018 1
2020 1
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2022 2
2023 2
2024 0

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96 results

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Page 1
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system.
Klein M, Kaleem A, Oetjen S, Wünkhaus D, Binkle L, Schilling S, Gjorgjieva M, Scholz R, Gruber-Schoffnegger D, Storch S, Kins S, Drewes G, Hoffmeister-Ullerich S, Kuhl D, Hermey G. Klein M, et al. Autophagy. 2022 Sep;18(9):2068-2085. doi: 10.1080/15548627.2021.2016232. Epub 2021 Dec 29. Autophagy. 2022. PMID: 34964690 Free PMC article.
PSENEN/PEN2 is the smallest subunit of the gamma-secretase complex, an intramembrane protease that cleaves proteins within their transmembrane domains. Mutations in components of the gamma-secretase underlie familial Alzheimer disease. In addition to its prot …
PSENEN/PEN2 is the smallest subunit of the gamma-secretase complex, an intramembrane protease that cleaves proteins within their transmembra …
Polygenic risk scores in familial Alzheimer disease.
Tosto G, Bird TD, Tsuang D, Bennett DA, Boeve BF, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Bertlesen S, Graff-Radford NR, Medrano M, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R. Tosto G, et al. Neurology. 2017 Mar 21;88(12):1180-1186. doi: 10.1212/WNL.0000000000003734. Epub 2017 Feb 17. Neurology. 2017. PMID: 28213371 Free PMC article.
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease. ...In Caribbean Hispanic families, the GRS also significantly pred …
OBJECTIVE: To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its …
Differential effects of familial Alzheimer's disease-causing mutations on amyloid precursor protein (APP) trafficking, proteolytic conversion, and synaptogenic activity.
Schilling S, Pradhan A, Heesch A, Helbig A, Blennow K, Koch C, Bertgen L, Koo EH, Brinkmalm G, Zetterberg H, Kins S, Eggert S. Schilling S, et al. Acta Neuropathol Commun. 2023 Jun 1;11(1):87. doi: 10.1186/s40478-023-01577-y. Acta Neuropathol Commun. 2023. PMID: 37259128 Free PMC article.
Importantly, N-terminally truncated Abeta peptides starting at position 5 were detected preferentially for APP Flemish, Arctic, and Iowa mutants containing amino acid substitutions around the alpha-secretase cleavage site. The strongest change in the ratio of Abeta40/Abeta42 was …
Importantly, N-terminally truncated Abeta peptides starting at position 5 were detected preferentially for APP Flemish, Arctic, and Iowa mut …
Interleukin-1 and the immunogenetics of Alzheimer disease.
Mrak RE, Griffin WS. Mrak RE, et al. J Neuropathol Exp Neurol. 2000 Jun;59(6):471-6. doi: 10.1093/jnen/59.6.471. J Neuropathol Exp Neurol. 2000. PMID: 10850859 Free PMC article. Review.
Established genetic causes of familial Alzheimer disease (AD) involve genes for beta-amyloid precursor protein (betaAPP), presenilin-1, and presenilin-2. ...IL-1 overexpression is also associated with environmental risk factors for AD, including normal aging …
Established genetic causes of familial Alzheimer disease (AD) involve genes for beta-amyloid precursor protein (betaAPP …
Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease.
Qiao M, Lee AJ, Reyes-Dumeyer D, Tosto G, Faber K, Goate A, Renton A, Chao M, Boeve B, Cruchaga C, Pericak-Vance M, Haines JL, Rosenberg R, Tsuang D, Sweet RA, Bennett DA, Wilson RS, Foroud T, Mayeux R, Vardarajan BN. Qiao M, et al. Ann Clin Transl Neurol. 2023 May;10(5):744-756. doi: 10.1002/acn3.51757. Epub 2023 Mar 22. Ann Clin Transl Neurol. 2023. PMID: 36946865 Free PMC article.
Presenilin structure, function and role in Alzheimer disease.
Fraser PE, Yang DS, Yu G, Lévesque L, Nishimura M, Arawaka S, Serpell LC, Rogaeva E, St George-Hyslop P. Fraser PE, et al. Biochim Biophys Acta. 2000 Jul 26;1502(1):1-15. doi: 10.1016/s0925-4439(00)00028-4. Biochim Biophys Acta. 2000. PMID: 10899427 Free article. Review.
Numerous missense mutations in the presenilins are associated with the autosomal dominant form of familial Alzheimer disease. Presenilin genes encode polytopic transmembrane proteins, which are processed by proteolytic cleavage and form high-molecular-weight …
Numerous missense mutations in the presenilins are associated with the autosomal dominant form of familial Alzheimer diseas …
Presymptomatic cortical thinning in familial Alzheimer disease: A longitudinal MRI study.
Weston PS, Nicholas JM, Lehmann M, Ryan NS, Liang Y, Macpherson K, Modat M, Rossor MN, Schott JM, Ourselin S, Fox NC. Weston PS, et al. Neurology. 2016 Nov 8;87(19):2050-2057. doi: 10.1212/WNL.0000000000003322. Epub 2016 Oct 12. Neurology. 2016. PMID: 27733562 Free PMC article.
OBJECTIVE: To identify a cortical signature pattern of cortical thinning in familial Alzheimer disease (FAD) and assess its utility in detecting and tracking presymptomatic neurodegeneration. ...Rate of change in cortical thickness became significantly differ …
OBJECTIVE: To identify a cortical signature pattern of cortical thinning in familial Alzheimer disease (FAD) and assess …
The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease.
Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R; National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) Family Study Group. Tosto G, et al. JAMA Neurol. 2016 Oct 1;73(10):1231-1237. doi: 10.1001/jamaneurol.2016.2539. JAMA Neurol. 2016. PMID: 27533593 Free PMC article.
A secondary model adjusted for the presence of an apolipoprotein E (APOE) epsilon4 allele. A genetic risk score, based on common variants associated with LOAD, was used to account for LOAD genetic risk beyond the APOE epsilon4 effect. ...Adjustment for APOE epsilon4 did no …
A secondary model adjusted for the presence of an apolipoprotein E (APOE) epsilon4 allele. A genetic risk score, based on common vari …
Retinal Imaging Findings in Carriers With PSEN1-Associated Early-Onset Familial Alzheimer Disease Before Onset of Cognitive Symptoms.
Armstrong GW, Kim LA, Vingopoulos F, Park JY, Garg I, Kasetty M, Silverman RF, Zeng R, Douglas VP, Lopera F, Baena A, Giraldo M, Norton D, Cronin-Golomb A, Arboleda-Velasquez JF, Quiroz YT, Miller JB. Armstrong GW, et al. JAMA Ophthalmol. 2021 Jan 1;139(1):49-56. doi: 10.1001/jamaophthalmol.2020.4909. JAMA Ophthalmol. 2021. PMID: 33180114 Free PMC article.
CONCLUSIONS AND RELEVANCE: These findings suggest that OCT can detect functional and morphologic changes in the retina of carriers of familial Alzheimer disease who are cognitively unimpaired several years before clinical onset, suggesting that OCT findings a …
CONCLUSIONS AND RELEVANCE: These findings suggest that OCT can detect functional and morphologic changes in the retina of carriers of fam …
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement.
Rippon GA, Tang MX, Lee JH, Lantigua R, Medrano M, Mayeux R. Rippon GA, et al. Neurology. 2006 Jan 10;66(1):35-40. doi: 10.1212/01.wnl.0000191300.38571.3e. Neurology. 2006. PMID: 16401842 Free PMC article.
Stroke, vascular risk factors, estrogen replacement therapy (ERT), head injury (HI), and smoking have been reported to influence risk of sporadic but not familial Alzheimer disease (AD). OBJECTIVES: To examine the potential relationship between these risk fac …
Stroke, vascular risk factors, estrogen replacement therapy (ERT), head injury (HI), and smoking have been reported to influence risk of spo …
96 results