Extreme cerebrospinal fluid amyloid β levels identify family with late‐onset Alzheimer's disease presenilin 1 mutation

Neuropathological stageing of Alzheimer-related changes.

Braak, H., & Braak, E. (1991) · Acta Neuropathologica · doi:10.1007/bf00308809 · Cited by 16,123 · see citing works

Primer3 on the WWW for General Users and for Biologist Programmers

Rozen, S., & Skaletsky, H. (2003) · Humana Press eBooks · doi:10.1385/1-59259-192-2:365 · Cited by 14,952 · see citing works

The Amyloid Hypothesis of Alzheimer’s Disease: Progress and Problems on the Road to Therapeutics

Hardy, J., & Selkoe, D. J. (2002) · Science · doi:10.1126/science.1072994 · Cited by 13,864 · see citing works

The Clinical Dementia Rating (CDR): Current version and scoring rules

Morris, J. C. (1993) · Neurology · doi:10.1212/wnl.43.11.2412-a · Cited by 9,882 · see citing works

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240 · see citing works

The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions

Gottesman, I. I., & Gould, T. D. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.4.636 · Cited by 5,615 · see citing works

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Hutton, M., Lendon, C. L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., et al. (1998) · Nature · doi:10.1038/31508 · Cited by 3,498 · see citing works

Consortium to Establish a Registry for Alzheimer's Disease (CERAD)

Fillenbaum, G., & Heyman, A. (2002) · doi:10.1002/0470846410.ch42(iii · Cited by 2,859 · see citing works

The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia

Zarranz, J. J., Alegre, J., Gómez‐Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atarés, B., et al. (2004) · Annals of Neurology · doi:10.1002/ana.10795 · Cited by 2,737 · see citing works

Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Scheuner, D., Eckman, C., Jensen, M., Song, X., Citron, M., Suzuki, N., Bird, T. D., Hardy, J., Hutton, M., Kukull, W., et al. (1996) · Nature Medicine · doi:10.1038/nm0896-864 · Cited by 2,599 · see citing works

CSF markers for incipient Alzheimer's disease

Blennow, K., & Hampel, H. (2003) · The Lancet Neurology · doi:10.1016/s1474-4422(03)00530-1 · Cited by 1,291 · see citing works

Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Aβ ₄₂ in humans

Fagan, A. M., Mintun, M. A., Mach, R. H., Lee, S., Dence, C. S., Shah, A. R., LaRossa, G. N., Spinner, M. L., Klunk, W. E., Mathis, C. A., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20730 · Cited by 1,246 · see citing works

Age-Dependent Changes in Brain, CSF, and Plasma Amyloid β Protein in the Tg2576 Transgenic Mouse Model of Alzheimer's Disease

Kawarabayashi, T., Younkin, L. H., Saido, T. C., Shoji, M., Ashe, K. H., & Younkin, S. G. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-02-00372.2001 · Cited by 1,053 · see citing works

Mild cognitive impairment can be distinguished from Alzheimer disease and normal aging for clinical trials

Grundman, M. (2004) · Archives of Neurology · doi:10.1001/archneur.61.1.59 · Cited by 972 · see citing works

Lack of apolipoprotein E dramatically reduces amyloid β-peptide deposition

Bales, K. R., Verina, T., Dodel, R. C., Du, Y., Altstiel, L., Bender, M., Hyslop, P., Johnstone, E. M., Little, S. P., Cummins, D. J., et al. (1997) · Nature Genetics · doi:10.1038/ng1197-263 · Cited by 830 · see citing works

Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy

Baker, M., Litvan, I., Houlden, H., Adamson, J., Dickson, D., Perez-Tur, J., Hardy, J., Lynch, T., Bigio, E., & Hutton, M. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.4.711 · Cited by 781 · see citing works

Reduction of β‐amyloid peptide₄₂ in the cerebrospinal fluid of patients with Alzheimer's disease

Motter, R., Vigo‐Pelfrey, C., Kholodenko, D., Barbour, R., Johnson‐Wood, K., Galasko, D., Chang, L., Miller, B., Clark, C., Green, R., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410380413 · Cited by 701 · see citing works

Decreased β-Amyloid_1-42and Increased Tau Levels in Cerebrospinal Fluid of Patients With Alzheimer Disease

Sunderland, T., Linker, G., Mirza, N., Putnam, K. T., Friedman, D. L., Kimmel, L. H., Bergeson, J., Manetti, G. J., Zimmermann, M., Tang, B., et al. (2003) · JAMA · doi:10.1001/jama.289.16.2094 · Cited by 656 · see citing works

CSF Aβ 42 levels correlate with amyloid-neuropathology in a population-based autopsy study

Strozyk, D., Blennow, K., White, L. R., & Launer, L. J. (2003) · Neurology · doi:10.1212/01.wnl.0000046581.81650.d0 · Cited by 604 · see citing works

Plasma and Cerebrospinal Fluid Levels of Amyloid β Proteins 1-40 and 1-42 in Alzheimer Disease

Mehta, P. D., Pirttilä, T., Mehta, S. P., Sersen, E. A., Aisen, P. S., & Wisniewski, H. M. (2000) · Archives of Neurology · doi:10.1001/archneur.57.1.100 · Cited by 582 · see citing works

Neurofibrillary Tangles, Amyloid, and Memory in Aging and Mild Cognitive Impairment

Guillozet-Bongaarts, A. L., Weıntraub, S., Mash, D. C., & Mesulam, M. M. (2003) · Archives of Neurology · doi:10.1001/archneur.60.5.729 · Cited by 572 · see citing works

The Genetics of Schizophrenia: A Current, Genetic-epidemiologic Perspective

Kendler, K. S., & Diehl, S. R. (1993) · Schizophrenia Bulletin · doi:10.1093/schbul/19.2.261 · Cited by 568 · see citing works

High Cerebrospinal Fluid Tau and Low Amyloid β42 Levels in the Clinical Diagnosis of Alzheimer Disease and Relation to Apolipoprotein E Genotype

Galasko, D., Chang, L., Motter, R., Clark, C. M., Kaye, J., Knopman, D., Thomas, R., Kholodenko, D., Schenk, D., Lieberburg, I., et al. (1998) · Archives of Neurology · doi:10.1001/archneur.55.7.937 · Cited by 442 · see citing works

Plasma Aβ40 and Aβ42 and Alzheimer’s disease: Relation to age, mortality, and risk

Mayeux, R., Honig, L. S., Tang, M.-X., Manly, J., Stern, Y., Schupf, N., & Mehta, P. D. (2003) · Neurology · doi:10.1212/01.wnl.0000091890.32140.8f · Cited by 434 · see citing works

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

Cruts, M., van Duijn, C. M., Backhovens, H., den Broeck, M. V., Wehnert, A., Serneels, S., Sherrington, R. P., Hutton, M., Hardy, J., George‐Hyslop, P. S., et al. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.1.43 · Cited by 432 · see citing works

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Houlden, H., Baker, M., Morris, H. R., MacDonald, N., Pickering–Brown, S., Adamson, J., Lees, A. J., Rossor, M. N., Quinn, N. P., Kertesz, A., et al. (2001) · Neurology · doi:10.1212/wnl.56.12.1702 · Cited by 409 · see citing works

Validation of clinical diagnostic criteria for Alzheimer's disease

Morris, J. C., McKeel, D. W., Fulling, K., Torack, R. M., & Berg, L. (1988) · Annals of Neurology · doi:10.1002/ana.410240105 · Cited by 362 · see citing works

Cerebrospinal Fluid Tau and β-Amyloid: How Well Do These Biomarkers Reflect Autopsy-Confirmed Dementia Diagnoses?

Clark, C. M., Xie, S., Chittams, J., Ewbank, D., Peskind, E., Galasko, D., Morris, J. C., McKeel, D. W., Farlow, M., Weitlauf, S. L., et al. (2003) · Archives of Neurology · doi:10.1001/archneur.60.12.1696 · Cited by 357 · see citing works

Longitudinal study of cerebrospinal fluid levels of tau, Aβ1–40, and Aβ1–42(43) in Alzheimer's disease: A study in Japan

Kanai, M., Matsubara, E., Isoe, K., Urakami, K., Nakashima, K., Arai, H., Sasaki, H., Abe, K., Iwatsubo, T., Kosaka, T., et al. (1998) · Annals of Neurology · doi:10.1002/ana.410440108 · Cited by 340 · see citing works

alpha-synuclein gene haplotypes are associated with Parkinson's disease

Farrer, M. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.17.1847 · Cited by 340 · see citing works

Value of CSF β-amyloid1–42 and tau as predictors of Alzheimer's disease in patients with mild cognitive impairment

Hampel, H., Teipel, S. J., Fuchsberger, T., Andreasen, N., Wiltfang, J., Otto, M., Shen, Y., Dodel, R., Du, Y., Farlow, M., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001473 · Cited by 287 · see citing works

Age but Not Diagnosis Is the Main Predictor of Plasma Amyloid β-Protein Levels

Fukumoto, H., Tennis, M. K., Locascio, J. J., Hyman, B. T., Growdon, J. H., & Irizarry, M. C. (2003) · Archives of Neurology · doi:10.1001/archneur.60.7.958 · Cited by 258 · see citing works

Combination assay of CSF Tau, Aβ1-40 and Aβ1-42(43) as a biochemical marker of Alzheimer's disease

Shoji, M., Matsubara, E., Kanai, M., Watanabe, M., Nakamura, T., Tomidokoro, Y., Shizuka, M., Wakabayashi, K., Igeta, Y., Ikeda, Y., et al. (1998) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(98)00122-1 · Cited by 219 · see citing works

A manic depressive history

RISCH, N. J., & Botstein, D. (1996) · Nature Genetics · doi:10.1038/ng0496-351 · Cited by 214 · see citing works

The Role of Heredity in Late-Onset Alzheimer Disease and Vascular Dementia

Bergem, A. L. M. (1997) · Archives of General Psychiatry · doi:10.1001/archpsyc.1997.01830150090013 · Cited by 208 · see citing works

Endophenotypes for psychiatric disorders: ready for primetime?

Bearden, C. E., & Freimer, N. B. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.04.004 · Cited by 206 · see citing works

Alzheimer's disease: one disorder, too many genes?

Bertram, L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh077 · Cited by 201 · see citing works

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes

Finckh, U., Müller‐Thomsen, T., Mann, U. M., Eggers, C., Marksteiner, J., Meins, W., Binetti, G. G., Alberici, A., Höck, C., Nitsch, R. M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302702 · Cited by 194 · see citing works

Cerebrospinal fluid levels of total-tau, phospho-tau and Aβ42 predicts development of Alzheimer's disease in patients with mild cognitive impairment

Andreasen, N., Vanmechelen, E., Vanderstichele, H., Davidsson, P., & Blennow, K. (2003) · Acta Neurologica Scandinavica · doi:10.1034/j.1600-0404.107.s179.9.x · Cited by 160 · see citing works

Elevated plasma amyloid β-peptide 1–42 and onset of dementia in adults with Down syndrome

Schupf, N., Patel, B. N., Silverman, W. P., Zigman, W. B., Zhong, N., Tycko, B., Mehta, P. D., & Mayeux, R. P. (2001) · Neuroscience Letters · doi:10.1016/s0304-3940(01)01657-3 · Cited by 148 · see citing works

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

Owen, F., Poulter, M., Shah, T., Collinge, J., Lofthouse, R., Baker, H. F., Ridley, R. M., McVey, J. H., & Crow, T. J. (1990) · Molecular Brain Research · doi:10.1016/0169-328x(90)90038-f · Cited by 148 · see citing works

Amyloid β protein 42(43) in cerebrospinal fluid of patients with Alzheimer's disease

Tamaoka, A., Sawamura, N., Fukushima, T., Shoji, S., Matsubara, E., Shoji, M., Hirai, S., Furiya, Y., Endoh, R., & Mori, H. (1997) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(96)00314-0 · Cited by 139 · see citing works

Age and Apolipoprotein E*4 Allele Effects on Cerebrospinal Fluid β-Amyloid 42 in Adults With Normal Cognition

Peskind, E. R., Li, G., Shofer, J., Quinn, J. F., Kaye, J. A., Clark, C. M., Farlow, M. R., DeCarli, C., Raskind, M. A., Schellenberg, G. D., et al. (2006) · Archives of Neurology · doi:10.1001/archneur.63.7.936 · Cited by 131 · see citing works

Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease: A Meta-analysis

Farrer, L. A. (1997) · JAMA · doi:10.1001/jama.1997.03550160069041 · Cited by 124 · see citing works

Amyloid β 38, 40, and 42 species in cerebrospinal fluid: More of the same?

Schoonenboom, N. S. M., Mulder, C., van Kamp, G. J., Mehta, S. P., Scheltens, P., Blankenstein, M. A., & Mehta, P. D. (2005) · Annals of Neurology · doi:10.1002/ana.20508 · Cited by 120 · see citing works

Age, neurofibrillary changes, Aβ-amyloid and the onset of Alzheimer's disease

Braak, H., Braak, E., Böhl, J., & Reintjes, R. (1996) · Neuroscience Letters · doi:10.1016/0304-3940(96)12668-9 · Cited by 117 · see citing works

Expression of normal sequence pathogenic proteins for neurodegenerative disease contributes to disease risk: ‘permissive templating’ as a general mechanism underlying neurodegeneration

Hardy, J. (2005) · Biochemical Society Transactions · doi:10.1042/bst0330578 · Cited by 105 · see citing works

Cerebrospinal fluid tau, Aβ1–42 and inflammatory cytokines in patients with Alzheimer's disease and vascular dementia

Jia, J., Meng, R., Sun, Y., Sun, W., Ji, X., & Jia, L. (2005) · Neuroscience Letters · doi:10.1016/j.neulet.2005.03.051 · Cited by 96 · see citing works

C‐terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation

Wang, J., Beher, D., Nyborg, A. C., Shearman, M. S., Golde, T. E., & Goate, A. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03548.x · Cited by 91 · see citing works

Functional analysis of intra-allelic variation at NACP-Rep1 in the ?-synuclein gene

Chiba‐Falek, O., Touchman, J. W., & Nussbaum, R. L. (2003) · Human Genetics · doi:10.1007/s00439-003-1002-9 · Cited by 87 · see citing works

The Consortium to Establish a Registry for Alzheimer's Disease (CERAD)

Silverman, J. M., Raiford, K., Edland, S. D., Fillenbaum, G. G., Morris, J. C., Clark, C. M., Kukull, W. A., & Heyman, A. (1994) · Neurology · doi:10.1212/wnl.44.7.1253 · Cited by 77 · see citing works

Anomalously phosphorylated tau and Aβ fragments in the CSF correlates with cognitive impairment in MCI subjects

Maccioni, R. B., Manuel Lavados, M., Guillón, M., Mújica, C. L. D., BOSCH, R., FARIAS, G., & FUENTES, P. (2005) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2005.01.011 · Cited by 66 · see citing works

Biomarkers in the Diagnosis of Alzheimer’s Disease: Are We Ready?

Sunderland, T., Hampel, H. J., Takeda, M., Putnam, K. T., & Cohen, R. M. (2006) · Journal of Geriatric Psychiatry and Neurology · doi:10.1177/0891988706291088 · Cited by 60 · see citing works

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

Larner, A. J., Ray, P. S., & Doran, M. (2007) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2006.11.013 · Cited by 39 · see citing works

Gender- and age-specific contributions of additional DNA sequence variation in the 5' regulatory region of the APOE gene to prediction of measures of lipid metabolism

Frikke-Schmidt, R., Sing, C., Nordestgaard, B., & Tybj�rg-Hansen, A. (2004) · Human Genetics · doi:10.1007/s00439-004-1165-z · Cited by 21 · see citing works

Diagnostic criteria for primary progressive mutiple sclerosis: a position paper.

(2000) · Pure Amsterdam UMC · doi:10.1002/1531-8249(200006)47:6 · Cited by 2 · see citing works

Untitled work

Kordower (1999) · doi:10.1002/1531-8249(199909)46:3

Alzheimer’s Disease: The Challenge of the Second Century

Holtzman, D. M., Morris, J. C., & Goate, A. M. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002369 · Cited by 1,424 · see citing works

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases

Lanoiselée, H.-M., Nicolas, G., Wallon, D., Rovelet-Lecrux, A., Lacour, M., Rousseau, S., Richard, A.-C., Pasquier, F., Rollin-Sillaire, A., Martinaud, O., et al. (2017) · PLOS Medicine · doi:10.1371/journal.pmed.1002270 · Cited by 616 · see citing works

Alzheimer’s Disease Genetics: From the Bench to the Clinic

Karch, C. M., Cruchaga, C., & Goate, A. M. (2014) · Neuron · doi:10.1016/j.neuron.2014.05.041 · Cited by 473 · see citing works

Longitudinal Change in CSF Biomarkers in Autosomal-Dominant Alzheimer’s Disease

Fagan, A. M., Xiong, C., Jasielec, M. S., Bateman, R. J., Goate, A. M., Benzinger, T. L. S., Ghetti, B., Martins, R. N., Masters, C. L., Mayeux, R., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3007901 · Cited by 434 · see citing works

GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease

Cruchaga, C., Kauwe, J. S. K., Harari, O., Jin, S. C., Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.026 · Cited by 383 · see citing works

Genetics of dementia

Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60630-3 · Cited by 342 · see citing works

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families

Cruchaga, C., Chakraverty, S., Mayo, K., Vallania, F. L. M., Mitra, R. D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031039 · Cited by 320 · see citing works

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE

Guerreiro, R. J., Gustafson, D. R., & Hardy, J. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.03.025 · Cited by 285 · see citing works

Early changes in CSF sTREM2 in dominantly inherited Alzheimer’s disease occur after amyloid deposition and neuronal injury

Suárez-Calvet, M., Araque Caballero, M. Á., Kleinberger, G., Bateman, R. J., Fagan, A. M., Morris, J. C., Levin, J., Danek, A., Ewers, M., Haass, C., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aag1767 · Cited by 272 · see citing works

The genetics and neuropathology of Alzheimer’s disease

Schellenberg, G. D., & Montine, T. J. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0996-2 · Cited by 242 · see citing works

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity

Kim, M., Suh, J., Romano, D., Truong, M. H., Mullin, K., Hooli, B., Norton, D., Tesco, G., Elliott, K., Wagner, S. L., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp323 · Cited by 234 · see citing works

Increased in Vivo Amyloid-β42 Production, Exchange, and Loss in Presenilin Mutation Carriers

Potter, R., Patterson, B. W., Elbert, D. L., Ovod, V., Kasten, T., Sigurdson, W., Mawuenyega, K., Blazey, T., Goate, A., Chott, R., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3005615 · Cited by 236 · see citing works

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Bales, K., Pickering, E. H., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds296 · Cited by 207 · see citing works

Molecular genetics of Alzheimer's disease: An update

Brouwers, N., Sleegers, K., & Broeckhoven, C. V. (2008) · Annals of Medicine · doi:10.1080/07853890802186905 · Cited by 208 · see citing works

Molecular Mechanisms of Alzheimer Disease Protection by the A673T Allele of Amyloid Precursor Protein

Maloney, J. A., Bainbridge, T. W., Gustafson, A. E., Zhang, S., Kyauk, R. V., Steiner, P., van der Brug, M., Liu, Y., Ernst, J. A., Watts, R. J., et al. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.589069 · Cited by 199 · see citing works

Pathways to Alzheimer's disease

Hardy, J., Bogdanović, N., Winblad, B. G., Portelius, E., Andreasen, N. C., Cedazo-Mı́nguez, Á., & Zetterberg, H. (2014) · Journal of Internal Medicine · doi:10.1111/joim.12192 · Cited by 177 · see citing works

PET amyloid-beta imaging in preclinical Alzheimer's disease

Vlassenko, A. G., Benzinger, T. L. S., & Morris, J. C. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.11.005 · Cited by 173 · see citing works

Unraveling Molecular and Genetic Insights into Neurodegenerative Diseases: Advances in Understanding Alzheimer’s, Parkinson’s, and Huntington’s Diseases and Amyotrophic Lateral Sclerosis

Ciurea, A. V., Mohan, A. G., Covache-Busuioc, R.-A., Costin, H. P., Glavan, L.-A., Corlatescu, A.-D., & Saceleanu, V. M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241310809 · Cited by 149 · see citing works

Genome-wide association study of CSF levels of 59 Alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

Kauwe, J. S. K., Bailey, M. H., Ridge, P. G., Perry, R., Wadsworth, M. E., Hoyt, K. L., Staley, L. A., Karch, C. M., Harari, O., Cruchaga, C., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004758 · Cited by 125 · see citing works

SNPs Associated with Cerebrospinal Fluid Phospho-Tau Levels Influence Rate of Decline in Alzheimer's Disease

Cruchaga, C., Kauwe, J. S. K., Mayo, K., Spiegel, N., Bertelsen, S., Nowotny, P., Shah, A. R., Abraham, R., Hollingworth, P., Harold, D., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001101 · Cited by 128 · see citing works

Genetic architecture of Alzheimer's disease

Neuner, S. M., TCW, J., & Goate, A. M. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104976 · Cited by 126 · see citing works

Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene

Bagaria, J., Bagyinszky, E., & An, S. S. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810970 · Cited by 114 · see citing works

Association and Expression Analyses With Single-Nucleotide Polymorphisms in TOMM40 in Alzheimer Disease

Cruchaga, C. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.155 · Cited by 104 · see citing works

Free radical-mediated damage to brain in Alzheimer's disease and its transgenic mouse models

Sonnen, J. A., Breitner, J. C. S., Lovell, M. A., Markesbery, W. R., Quinn, J. F., & Montine, T. J. (2008) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2008.04.022 · Cited by 103 · see citing works

Rare autosomal copy number variations in early-onset familial Alzheimer’s disease

Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., Lange, C., Mohapatra, G., Bertram, L., & Tanzi, R. E. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.77 · Cited by 100 · see citing works

Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders

An, S. S. A., Cai, Y., & Kim, S. (2015) · Clinical Interventions in Aging · doi:10.2147/cia.s85808 · Cited by 101 · see citing works

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

Kauwe, J. S. K., Cruchaga, C., Mayo, K., Fenoglio, C., Bertelsen, S. E., Nowotny, P., Galimberti, D., Scarpini, E. A., Morris, J. C., Fagan, A. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0801227105 · Cited by 89 · see citing works

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

Larner, A. J. (2013) · Journal of Alzheimer s Disease · doi:10.3233/jad-130746 · Cited by 83 · see citing works

Alzheimer’s disease risk variants show association with cerebrospinal fluid amyloid beta

Kauwe, J. S. K., Wang, J., Mayo, K., Morris, J. C., Fagan, A. M., Holtzman, D. M., & Goate, A. M. (2009) · neurogenetics · doi:10.1007/s10048-008-0150-4 · Cited by 82 · see citing works

Canonical correlation analysis for RNA-seq co-expression networks

Hong, S., Chen, X., Li, J., & Xiong, M. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt145 · Cited by 80 · see citing works

DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

Meeus, B., Verstraeten, A., Crosiers, D., Engelborghs, S., den Broeck, M. V., Mattheijssens, M., Peeters, K., Corsmit, E., Elinck, E., Pickut, B. A., et al. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.10.014 · Cited by 80 · see citing works

The 28‐amino acid form of an APLP1‐derived Aβ‐like peptide is a surrogate marker for Aβ42 production in the central nervous system

Yanagida, K., Okochi, M., Tagami, S., Nakayama, T., Kodama, T. S., Nishitomi, K., Jiang, J., Mori, K., Tatsumi, S., Arai, T., et al. (2009) · EMBO Molecular Medicine · doi:10.1002/emmm.200900026 · Cited by 78 · see citing works

Biomarkers for cognitive impairment and dementia in elderly people

Sonnen, J. A., Montine, K. S., Quinn, J. F., Kaye, J. A., Breitner, J. C. S., & Montine, T. J. (2008) · The Lancet Neurology · doi:10.1016/s1474-4422(08)70162-5 · Cited by 77 · see citing works

Genetic Markers of Alzheimer’s Disease

Perković, M. N., & Pivac, N. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-32-9721-0_3 · Cited by 75 · see citing works

Understanding the cause of sporadic Alzheimer’s disease

Zetterberg, H., & Mattsson, N. (2014) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.2014.915740 · Cited by 73 · see citing works

Fine Mapping of Genetic Variants in BIN1, CLU, CR1 and PICALM for Association with Cerebrospinal Fluid Biomarkers for Alzheimer's Disease

Kauwe, J. S. K., Cruchaga, C., Karch, C. M. M., Sadler, B. E., Lee, M., Mayo, K., Latu, W., Su'a, M., Fagan, A. M., Holtzman, D. M., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0015918 · Cited by 72 · see citing works

Biomarkers for early diagnosis of Alzheimer disease: ‘ALZheimer ASsociated gene’– a new blood biomarker?

Jellinger, K. A., Janetzky, B., Attems, J., & Kienzl, E. (2008) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2008.00313.x · Cited by 70 · see citing works

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

Patel, D., Mez, J. B., Vardarajan, B. N., Staley, L. A., Chung, J., Zhang, X., Farrell, J. J., Rynkiewicz, M. J., Cannon‐Albright, L., Teerlink, C. C., et al. (2019) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.1350 · Cited by 66 · see citing works

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

Benítez, B. A., Karch, C. M. M., Cai, Y., Jin, S. C., Cooper, B., Carrell, D., Bertelsen, S. E., Chibnik, L. B., Schneider, J. A., Bennett, D., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003685 · Cited by 64 · see citing works

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., et al. (2017) · JAMA Neurology · doi:10.1001/jamaneurol.2017.1518 · Cited by 62 · see citing works

Cerebrospinal fluid biomarkers for Alzheimer's and vascular disease vary by age, gender, and APOE genotype in cognitively normal adults

Li, G., Shofer, J. B., Petrie, E. C., Yu, C., Wilkinson, C. W., Figlewicz, D. P., Shutes‐David, A., Zhang, J., Montine, T. J., Raskind, M. A., et al. (2017) · Alzheimer s Research & Therapy · doi:10.1186/s13195-017-0271-9 · Cited by 53 · see citing works

Alcadein Cleavages by Amyloid β-Precursor Protein (APP) α- and γ-Secretases Generate Small Peptides, p3-Alcs, Indicating Alzheimer Disease-related γ-Secretase Dysfunction

Hata, S., Fujishige, S., Araki, Y., Kato, N., Araseki, M., Nishimura, M., Hartmann, D., Säftig, P., Fahrenholz, F., Taniguchi, M., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.057497 · Cited by 53 · see citing works

Genetics of dementia: Update and guidelines for the clinician

Cohn‐Hokke, P. E., Elting, M. W., Pijnenburg, Y. A. L., & Swieten, J. C. V. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32080 · Cited by 47 · see citing works

Golgi fragmentation – One of the earliest organelle phenotypes in Alzheimer’s disease neurons

Haukedal, H., Corsi, G. I., Gadekar, V. P., Doncheva, N. T., Kedia, S., de Haan, N., Chandrasekaran, A., Jensen, P., Schiønning, P., Vallin, S., et al. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1120086 · Cited by 37 · see citing works

Association of Longitudinal Changes in Cerebrospinal Fluid Total Tau and Phosphorylated Tau 181 and Brain Atrophy With Disease Progression in Patients With Alzheimer Disease

Llibre‐Guerra, J. J., Li, Y., Schindler, S. E., Gordon, B. A., Fagan, A. M., Morris, J. C., Benzinger, T. L. S., Hassenstab, J. J., Wang, G., Allegri, R., et al. (2019) · JAMA Network Open · doi:10.1001/jamanetworkopen.2019.17126 · Cited by 38 · see citing works

Pupil Response Biomarkers Distinguish Amyloid Precursor Protein Mutation Carriers from Non-Carriers

Frost, S. M., Kanagasingam, Y., Sohrabi, H. R., Taddei, K., Bateman, R. J., Morris, J. C., Benzinger, T. L. S., Goate, A., Masters, C. L., & Martins, R. N. (2013) · Current Alzheimer Research · doi:10.2174/15672050113109990154 · Cited by 35 · see citing works

Mild cognitive impairment (part 2): biological markers for diagnosis and prediction of dementia in Alzheimer's disease

Forlenza, O. V., Diniz, B. S., Teixeira, A. L., Stella, F., & Gattaz, W. F. (2013) · Brazilian Journal of Psychiatry · doi:10.1590/1516-4446-2012-3505 · Cited by 26 · see citing works

Novel Blood Biomarkers that Correlate with Cognitive Performance and Hippocampal Volumetry: Potential for Early Diagnosis of Alzheimer’s Disease

Hudd, F., Shiel, A., Harris, M., Bowdler, P., McCann, B., Tsivos, D., Wearn, A., Knight, M., Kauppinen, R., Coulthard, E., et al. (2019) · Journal of Alzheimer's Disease · doi:10.3233/jad-180879 · Cited by 26 · see citing works

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

Ibáñez, L., Dube, U., Davis, A. A., Fernández, M. V., Budde, J., Cooper, B., Díez-Fairén, M., Ortega‐Cubero, S., Pástor, P., Perlmutter, J. S., et al. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00230 · Cited by 26 · see citing works

CALHM1 P86L Polymorphism Modulates CSF Aβ Levels in Cognitively Healthy Individuals at Risk for Alzheimer’s Disease

Koppel, J. L., Campagne, F., Vingtdeux, V., Dreses‐Werringloer, U., Ewers, M., Rujescu, D., Hampel, H. J., Gordon, M. L., Christen, E., Chapuis, J., et al. (2011) · Molecular Medicine · doi:10.2119/molmed.2011.00154 · Cited by 25 · see citing works

Cerebrospinal Fluid Biomarkers in Mild Cognitive Impairment and Dementia

Sonnen, J. A., Montine, K. S., Quinn, J. F., Breitner, J. C. S., & Montine, T. J. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-1236 · Cited by 23 · see citing works

Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease

Day, G. S., Musiek, E. S., Roe, C. M., Norton, J. B., Goate, A., Cruchaga, C., Cairns, N. J., & Morris, J. C. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.1236 · Cited by 21 · see citing works

Longitudinal clinical, cognitive and biomarker profiles in dominantly inherited versus sporadic early-onset Alzheimer’s disease

Llibre‐Guerra, J. J., Iaccarino, L., Coble, D., Edwards, L., Li, Y., McDade, E., Strom, A., Gordon, B. A., Mundada, N. S., Schindler, S. E., et al. (2023) · Brain Communications · doi:10.1093/braincomms/fcad280 · Cited by 19 · see citing works

Presenilin 1 mutation likely contributes to U1 small nuclear RNA dysregulation and Alzheimer's disease–like symptoms

Cheng, Z., Shang, Y., Xu, X., Dong, Z., Zhang, Y., Du, Z., Lu, X., & Zhang, T. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.12.015 · Cited by 17 · see citing works

APOE Lipoprotein Particles: Pathophysiology, Therapy, and the Crosstalk in Alzheimer’s Disease and Cardiovascular Disease

Лю, Ч., Liu, J., Wang, Y., Xu, S.-F., & Yu, L.-M. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05629-3 · Cited by 21 · see citing works

Strong Evidence for a Genetic Contribution to Late-Onset Alzheimer’s Disease Mortality: A Population-Based Study

Kauwe, J. S. K., Ridge, P. G., Foster, N. L., & Cannon‐Albright, L. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077087 · Cited by 16 · see citing works

The immunological potency and therapeutic potential of a prototype dual vaccine against influenza and Alzheimer's disease

Davtyan, H., Ghochikyan, A., Cadagan, R., Zamarin, D., Petrushina, I., Movsesyan, N., Martínez‐Sobrido, L., Albrecht, R. A., García‐Sastre, A., & Agadjanyan, M. G. (2011) · Journal of Translational Medicine · doi:10.1186/1479-5876-9-127 · Cited by 17 · see citing works

Multiple γ-secretase product peptides are coordinately increased in concentration in the cerebrospinal fluid of a subpopulation of sporadic Alzheimer’s disease subjects

Hata, S., Taniguchi, M., Piao, Y., Ikeuchi, T., Fagan, A. M., Holtzman, D. M., Bateman, R. J., Sohrabi, H. R., Martins, R. N., Gandy, S., et al. (2012) · Molecular Neurodegeneration · doi:10.1186/1750-1326-7-16 · Cited by 15 · see citing works

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life

Kauwe, J. S. K., Wang, J., Chakraverty, S., Goate, A., & Henao‐Martínez, A. F. (2008) · Neuroscience Letters · doi:10.1016/j.neulet.2008.04.029 · Cited by 13 · see citing works

Genetic Discoveries in AD Using CSF Amyloid and Tau

Cruchaga, C., Ebbert, M., & Kauwe, J. S. K. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0031-0 · Cited by 11 · see citing works

Molecular Profiling Reveals Diversity of Stress Signal Transduction Cascades in Highly Penetrant Alzheimer's Disease Human Skin Fibroblasts

Mendonsa, G. R., Zakaria, J. A. D., Lin, A., Vijairania, P., Jong, Y.-J. I., & Baenziger, N. L. (2009) · PLoS ONE · doi:10.1371/journal.pone.0004655 · Cited by 11 · see citing works

Direct‐to‐consumer genetic testing in China and its role in GWAS discovery and replication

Kang, K., Sun, X., Wang, L., Yao, X., Tang, S., Deng, J., Wu, X., Yang, C., & Chen, G. (2020) · Quantitative Biology · doi:10.1007/s40484-020-0209-2 · Cited by 11 · see citing works

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

Marsh, J. A., Huang, G., Bowling, K., Renton, A. E., Ziegemeier, E., Ball, T., Pottier, C., Cruchaga, C., Day, G. S., Bateman, R. J., et al. (2025) · Neurotherapeutics · doi:10.1016/j.neurot.2025.e00527 · Cited by 9 · see citing works

The Dangers of Direct-to-Consumer Genetic Testing for Alzheimer’s Disease

Lacaze, P. A., Tiller, J. M., & Ryan, J. L. (2017) · Journal of Bioethical Inquiry · doi:10.1007/s11673-017-9817-6 · Cited by 9 · see citing works

Cruchaga & Goate reply

Cruchaga, C., & Goate, A. (2015) · Nature · doi:10.1038/nature14037 · Cited by 8 · see citing works

Amyloid-β can activate JNK signalling via WNT5A-ROR2 to reduce synapse formation in Alzheimer's disease

Fang, K., Pishva, E., Piers, T. M., & Scholpp, S. (2025) · Journal of Cell Science · doi:10.1242/jcs.263526 · Cited by 7 · see citing works

Molecular genetics of early-onset Alzheimer's disease and frontotemporal lobar degeneration

Krüger, J. (2010) · Cited by 7 · see citing works

The HapMap

Hardy, J., & Singleton, A. (2008) · Archives of Neurology · doi:10.1001/archneur.65.3.319 · Cited by 6 · see citing works

Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

Guerreiro, R. J., Brás, J., Toombs, J., Heslegrave, A., Hardy, J., & Zetterberg, H. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0062-6 · Cited by 5 · see citing works

Genome scan in familial late‐onset Alzheimer's disease: A locus on chromosome 6 contributes to age‐at‐onset

Zhao, W., Blue, E., Cheung, C. Y. K., Steinbart, E. J., Schellenberg, G. D., Bird, T. D., & Wijsman, E. M. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32133 · Cited by 5 · see citing works

Endophenotypes in psychiatric genetics

Chen, A. C. H., Rangaswamy, M., & Bernice Porjesz, A. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139025997.030 · Cited by 4 · see citing works

Alzheimer's Disease Longitudinal Change in CSF Biomarkers in Autosomal-Dominant

Fagan, A. M. (2014) · Cited by 3 · see citing works

Cruchaga & Goate reply

Cruchaga, C., & Goate, A. (2015) · Nature · doi:10.1038/nature14041 · Cited by 3 · see citing works

Molecular etiopathogenesis of neurodegenerative diseases

Divya, D., Thekkekkara, D., Sai, T. E., Ramakrishna, D., Manjula, S. N., & Goswami, S. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-28822-7.00002-7 · Cited by 2 · see citing works

Are Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease “Separate but Equal”?

Ringman, J. M. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.1633 · Cited by 2 · see citing works

Alzheimer's disease

Cruchaga, C., Kauwe, J. S. K., & Goate, A. (2012) · Cambridge University Press eBooks · doi:10.1017/cbo9781139025997.032 · Cited by 1 · see citing works

Strategies for Alzheimer's Disease Diagnosis

Estrada, L. D., & Soto, C. A. (2009) · Springer eBooks · doi:10.1007/978-0-387-87995-6_18 · Cited by 1 · see citing works

Finding Risk in All the Right Places

Singleton, A. (2013) · Neuron · doi:10.1016/j.neuron.2013.04.011

Ocular biomarkers for early detection and monitoring of Alzheimer's disease

Frost, S. M. (2013) · UWA Profiles and Research Repository (UWA)

The Correlation between Genotype and Phenotype of Alzheimer's Disease

Li, H. L., Jiang, B., & Wu, Z. Y. (2018) · Journal of Alzheimer’s Disease & Parkinsonism · doi:10.4172/2161-0460.1000417

The 7th Leonard Berg Symposium, Part 3

Strobel, G. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100148

Current awareness in geriatric psychiatry

(2008) · International Journal of Geriatric Psychiatry · doi:10.1002/gps.1923

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer’s Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis

Yang, Y., Bagyinszky, E., & An, S. S. A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25179678

Effect of Cognitive Reserve on Age at Symptom Onset and Cognitive Decline in Individuals With Dominantly Inherited Alzheimer Disease

Llibre‐Guerra, J. J., Lu, R., Clarens, M. F., Liu, I., Renton, A. E., Ryan, N. S., Goate, A., Aguillón, D., Allegri, R., Benzinger, T. L. S., et al. (2026) · Neurology · doi:10.1212/wnl.0000000000214804

Extreme Cerebrospinal Fluid Amyloid Levels Identify Family with Late-Onset Alzheimer’s Disease Presenilin 1 Mutation

Kauwe, J. S. K., Jacquart, S., Chakraverty, S., Wang, J., Mayo, K., Fagan, A. M., Holtzman, D. M., Morris, J. C., & Goate, A. (2014)

CSF Studies Facilitate DNA Diagnosis in Familial Alzheimer's Disease Due to a Presenilin-1 Mutation

de Bot, S. T., Kremer, H. P. H., Dooijes, D., & Verbeek, M. M. (2009) · Journal of Alzheimer s Disease · doi:10.3233/jad-2009-1038 · Cited by 7 · see citing works

Cerebrospinal Fluid Biomarkers in Alzheimer’s Disease Families with PSEN1 Mutations

Fortea, J., Lladó, A., Bosch, B., Antonell, A., Oliva, R., Molinuevo, J. L., & Sánchez‐Valle, R. (2011) · Neurodegenerative Diseases · doi:10.1159/000322229 · Cited by 25 · see citing works

Association of Presenilin2 genetic variations and beta-amyloid 42 level in cerebrospinal fluid of early-onset Alzheimer's disease patients

Arnim, C. A. F. V., Lebedeva, E. R., Tumani, H., Ludolph, A., & Kirchheiner, J. (2008) · Aktuelle Neurologie · doi:10.1055/s-0028-1086622

Novel PSEN1 (P284S) Mutation Causes Alzheimer's Disease with Cerebellar Amyloid β-Protein Deposition

Xia, M., Gao, C., Wang, H., Shang, J., Liu, R., You, Y., Zang, W., & Zhang, J. (2022) · Current Alzheimer Research · doi:10.2174/1567205019666220718151357 · Cited by 4 · see citing works