References
- RosenbergRNThe molecular and genetic basis of AD: the end of the beginningNeurology2000542045205410851361
- BrouwersNSleegersKVan BroeckhovenCMolecular genetics of Alzheimer’s disease: an updateAnn Med200840856258318608129
- CacaceRSleegersKVan BroeckhovenCMolecular genetics of early-onset Alzheimer’s disease revisitedAlzheimers Dement201612673374827016693
- PortetFDauvilliersYDCampionGVery early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)Neurology20036181136113714581682
- GolanMPStyczynskaMJozwiakKEarly-onset Alzheimer’s disease with a de novo mutation in the presenilin 1 geneExp Neurol2007208226426817931627
- ParkKWAnSSBagyinszkyEKimSA case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure predictionClin Interv Aging20171236737528243073
- YounYCBagyinszkyEKimHChoiBOAnSSKimSProbable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural predictionBMC Neurol20141410524885952
- NiuFYuSZhangZA novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer’s disease in a Chinese Han familyNeurobiol Aging201435102420.e12420.e5
- ShiZWangYLiuSClinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutationsDement Geriatr Cogn Disord2015391–2324025323700
- XiaMChenSShiYProbable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer’s diseaseNeurobiol Aging201536123334.e133334.e18
- RyanNSRossorMNCorrelating familial Alzheimer’s disease gene mutations with clinical phenotypeBiomark Med2010419911220387306
- PilottoAPadovaniABorroniBClinical, biological, and imaging features of monogenic Alzheimer’s diseaseBiomed Res Int2013201368959124377094
- FinckhUAlbericiAAntoniazziMVariable expression of familial Alzheimer disease associated with presenilin 2 mutation M239INeurology200054102006200810822446
- BirdTDLevy-LahadEPookajPWide range in age of onset for chromosome-1 related familial Alzheimer’s diseaseAnn Neurol19964069329369007102
- CaiYAnSSKimSMutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disordersClin Interv Aging2015101163117226203236
- McKhannGDrachmanDFolsteinMKatzmanRPriceDStadlanEMClinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s diseaseNeurology19843479399446610841
- GiauVVAnSSBagyinszkyEKimSYGene panels and primers for next generation sequencing studies on neurodegenerative disordersMol Cell Toxicol201511289143
- KällbergMWangHWangSTemplate-based protein structure modeling using the RaptorX web serverNat Protoc2012781511152222814390
- BindeaGMlecnikBHacklHClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networksBioinformatics20092581091109319237447
- GuerreiroRJBaqueroMBlesaRGenetic screening of Alzheimer’s disease genes in Iberian and African samples yields novel mutations in presenilins and APPNeurobiol Aging201031572573118667258
- RichardsSAzizNBaleSStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med201517540542425741868
- GiauVVBagyinszkyEAnSSAKimSYClinical genetic strategies for early onset neurodegenerative diseasesMol Cell Toxicol2018142123142
- PiscopoPTalaricoGCrestiniAA novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer’s diseaseJ Alzheimers Dis2010201434720164579
- JayadevSLeverenzJBSteinbartEAlzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2Brain2010133Pt 41143115420375137
- MastrangeloPMathewsPMChishtiMADissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretasesProc Natl Acad Sci U S A2005102258972897715951428
- ShirotaniKTakahashiKArakiWMaruyamaKTabiraTMutational analysis of intrinsic regions of presenilin 2 that determine its endoproteolytic cleavage and pathological functionJ Biol Chem200027553681368610652366
- RogaevaEMengYLeeJHThe neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer diseaseNat Genet200739216817717220890
- SatohKAbe-DohmaeSYokoyamaSGeorge-HyslopPStFraserPEATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processingJ Biol Chem201529040241522416526260791