Acx H, Chávez-Gutiérrez L, Serneels L, Lismont S, Benurwar M, Elad N et al (2014) Signature amyloid β profiles are produced by different γ-secretase complexes*. JBC 289:4346–4355. https://doi.org/10.1074/jbc.M113.530907

Article  CAS  Google Scholar 

Alafuzoff I, Pikkarainen M, Al-Sarraj S, Arzberger T, Bell J, Bodi I et al (2006) Interlaboratory comparison of assessments of Alzheimer disease-related lesions: a study of the BrainNet Europe Consortium. J Neuropathol Exp Neurol 65:740–757. https://doi.org/10.1097/01.jnen.0000229986.17548.27

Article  CAS  PubMed  Google Scholar 

Arslan S, Garcia FJ, Guo M, Kellinger MW, Kruglyak S, LeVieux JA et al (2024) Sequencing by avidity enables high accuracy with low reagent consumption. Nat Biotechnol 42:132–138. https://doi.org/10.1038/s41587-023-01750-7

Article  CAS  PubMed  Google Scholar 

Auton A, Abecasis GR, Altshuler DM, Durbin RM, Abecasis GR, Bentley DR et al (2015) A global reference for human genetic variation. Nature 526:68–74. https://doi.org/10.1038/nature15393

Article  CAS  PubMed  Google Scholar 

Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N et al (2022) New insights into the genetic etiology of Alzheimer’s disease and related dementias. Nat Genet 54:412–436. https://doi.org/10.1038/s41588-022-01024-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bennett DA, Buchman AS, Boyle PA, Barnes LL, Wilson RS, Schneider JA (2018) Religious orders study and rush memory and aging project. J Alzheimers Dis 64:S161-s189. https://doi.org/10.3233/jad-179939

Article  PubMed  PubMed Central  Google Scholar 

Bergem AL, Engedal K, Kringlen E (1997) The role of heredity in late-onset Alzheimer disease and vascular dementia. A twin study. Arch Gen Psychiatry 54:264–270. https://doi.org/10.1001/archpsyc.1997.01830150090013

Article  CAS  PubMed  Google Scholar 

Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Costanzo A et al (2009) Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia. Neurobiol Aging 30:1825–1833. https://doi.org/10.1016/j.neurobiolaging.2008.01.005

Article  CAS  PubMed  Google Scholar 

Bourdenx M, Martín-Segura A, Scrivo A, Rodriguez-Navarro JA, Kaushik S, Tasset I et al (2021) Chaperone-mediated autophagy prevents collapse of the neuronal metastable proteome. Cell J 184:2696-2714.e2625. https://doi.org/10.1016/j.cell.2021.03.048

Article  CAS  Google Scholar 

Braak H, Alafuzoff I, Arzberger T, Kretzschmar H, Del Tredici K (2006) Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry. Acta Neuropathol 112:389–404. https://doi.org/10.1007/s00401-006-0127-z

Article  PubMed  PubMed Central  Google Scholar 

Braak H, Tredici KD, Rüb U, de Vos RAI, Jansen Steur ENH, Braak E (2003) Staging of brain pathology related to sporadic Parkinson’s disease. Neurobiol Aging 24:197–211. https://doi.org/10.1016/S0197-4580(02)00065-9

Article  PubMed  Google Scholar 

Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E et al (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet 53:294–303. https://doi.org/10.1038/s41588-021-00785-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cooper JM, Lathuiliere A, Su EJ, Song Y, Torrente D, Jo Y et al (2024) SORL1 is a receptor for tau that promotes tau seeding. J Biol Chem 300:107313. https://doi.org/10.1016/j.jbc.2024.107313

Article  CAS  PubMed  PubMed Central  Google Scholar 

Crane PK, Foroud T, Montine TJ, Larson EB (2017) Alzheimer’s disease sequencing project discovery and replication criteria for cases and controls: data from a community-based prospective cohort study with autopsy follow-up. Alzheimers Dement 13:1410–1413. https://doi.org/10.1016/j.jalz.2017.09.010

Article  PubMed  Google Scholar 

De Strooper B (2003) Aph-1, Pen-2, and Nicastrin with Presenilin generate an active gamma-Secretase complex. Neuron 38:9–12. https://doi.org/10.1016/s0896-6273(03)00205-8

Article  PubMed  Google Scholar 

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J et al (2004) A novel presenilin 1 mutation associated with Pick’s disease but not beta-amyloid plaques. Ann Neurol 55:617–626. https://doi.org/10.1002/ana.20083

Article  CAS  PubMed  Google Scholar 

Dourlen P, Fernandez-Gomez FJ, Dupont C, Grenier-Boley B, Bellenguez C, Obriot H et al (2017) Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology. Mol Psychiatry 22:874–883. https://doi.org/10.1038/mp.2016.59

Article  CAS  PubMed  Google Scholar 

Edge P, Bansal V (2019) Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing. Nat Commun 10:4660. https://doi.org/10.1038/s41467-019-12493-y

Article  CAS  PubMed  PubMed Central  Google Scholar 

Epskamp S, Borsboom D, Fried EI (2018) Estimating psychological networks and their accuracy: a tutorial paper. Behav Res Methods 50:195–212. https://doi.org/10.3758/s13428-017-0862-1

Article  PubMed  Google Scholar 

Foygel R, Drton M (2010) Extended Bayesian information criteria for Gaussian graphical models. In: Proceedings of the 23rd International Conference on Neural Information Processing Systems—Volume 1. Curran Associates Inc., City, pp 604–612

Friedman J, Hastie T, Tibshirani R (2008) Sparse inverse covariance estimation with the graphical lasso. J Biostat 9:432–441. https://doi.org/10.1093/biostatistics/kxm045

Article  Google Scholar 

Ghosal K, Fan Q, Dawson HN, Pimplikar SW (2016) Tau protein mediates APP intracellular domain (AICD)-induced Alzheimer’s-like pathological features in mice. PLoS ONE 11:e0159435. https://doi.org/10.1371/journal.pone.0159435

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hamilton RL (2000) Lewy bodies in Alzheimer’s disease: a neuropathological review of 145 cases using α-synuclein immunohistochemistry. Brain Pathol 10:378–384. https://doi.org/10.1111/j.1750-3639.2000.tb00269.x

Article  CAS  PubMed  Google Scholar 

Hao KM, Liu Z, Wang HY, Qi WX (2022) Time dependent expression profiling of PTK2B and its relationship with Aβ, Tau and LRP-1 in hippocampus and blood of APPswe/PS1dE9 double-transgenic mouse. Zhongguo Ying Yong Sheng Li Xue Za Zhi 38:17–24. https://doi.org/10.10247/j.cjap.6191.2022.004

Article  PubMed  Google Scholar 

Harley P, Neves G, Riccio F, Machado CB, Cheesbrough A, R’Bibo L et al. (2022) Pathogenic TDP-43 disrupts axon initial segment structure and neuronal excitability in a human iPSC Model of ALS. bioRxiv

Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML et al (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease. Nat Genet 41:1088–1093. https://doi.org/10.1038/ng.440

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hong S, Prokopenko D, Dobricic V, Kilpert F, Bos I, Vos SJB et al (2020) Genome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD multimodal biomarker discovery dataset. Transl Psychiatry 10:403. https://doi.org/10.1038/s41398-020-01074-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC et al (2012) National Institute on Aging–Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease. A&D 8:1–13. https://doi.org/10.1016/j.jalz.2011.10.007

Article  Google Scholar 

Hyman BT, Trojanowski JQ (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol 56:1095–1097. https://doi.org/10.1097/00005072-199710000-00002

Article  CAS  PubMed  Google Scholar 

Jacobson TY, Nho K, Risacher SL, Gao S, Shen L, Foroud T, et al. (2021) Genome wide analysis across Alzheimer’s disease