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Peter St George-Hyslop, MD, FRCP - Publications

Affiliations: 
Medicine University of Toronto, Toronto, ON, Canada 
Area:
http://www.researchprofiles.collexis.com/jad/expert.asp?u_id=33
Website:
http://www.cimr.cam.ac.uk/investigators/st-george-hyslop/index.html
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Year Citation  Score
2024 Ho PC, Yu WH, Tee BL, Lee WP, Li C, Gu Y, Yokoyama JS, Reyes-Dumeyer D, Choi YB, Yang HS, Vardarajan BN, Tzuang M, Lieu K, Lu A, Faber KM, ... ... St George-Hyslop P, et al. Asian Cohort for Alzheimer's Disease (ACAD) pilot study on genetic and non-genetic risk factors for Alzheimer's disease among Asian Americans and Canadians. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 38215053 DOI: 10.1002/alz.13611  0.306
2023 Rajabli F, Benchek P, Tosto G, Kushch N, Sha J, Bazemore K, Zhu C, Lee WP, Haut J, Hamilton-Nelson KL, Wheeler NR, Zhao Y, Farrell JJ, Grunin MA, Leung YY, ... ... St George-Hyslop P, et al. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies and nominates ancestry-specific loci , , and as novel risk loci for Alzheimer's disease: the Alzheimer's Disease Genetics Consortium. Medrxiv : the Preprint Server For Health Sciences. PMID 37461624 DOI: 10.1101/2023.07.06.23292311  0.558
2023 Li S, Poon CH, Zhang Z, Yue M, Chen R, Zhang Y, Hossain MF, Pan Y, Zhao J, Rong L, Chu LW, Shea YF, Rogaeva E, Tu J, St George-Hyslop P, et al. MicroRNA-128 suppresses tau phosphorylation and reduces amyloid-beta accumulation by inhibiting the expression of GSK3β, APPBP2, and mTOR in Alzheimer's disease. Cns Neuroscience & Therapeutics. PMID 36880288 DOI: 10.1111/cns.14143  0.476
2021 Zhang Y, Zhang Y, Aman Y, Ng CT, Chau WH, Zhang Z, Yue M, Bohm C, Jia Y, Li S, Yuan Q, Griffin J, Chiu K, Wong DSM, Wang B, ... ... St George-Hyslop P, et al. Amyloid-β toxicity modulates tau phosphorylation through the PAX6 signalling pathway. Brain : a Journal of Neurology. PMID 34428276 DOI: 10.1093/brain/awab134  0.465
2021 Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, ... ... St George-Hyslop P, et al. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics. PMID 33589841 DOI: 10.1038/s41588-021-00785-3  0.545
2020 Wislet-Gendebien S, D'Souza C, Kawarai T, St George-Hyslop P, Westaway D, Fraser P, Tandon A. Withdrawal: Cytosolic proteins regulate α-synuclein dissociation from presynaptic membranes. The Journal of Biological Chemistry. 295: 13694. PMID 32978332 DOI: 10.1074/jbc.W120.015777  0.352
2020 Orme T, Hernandez D, Ross OA, Kun-Rodrigues C, Darwent L, Shepherd CE, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, Rogaeva E, St George-Hyslop P, Londos E, et al. Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies. Acta Neuropathologica Communications. 8: 5. PMID 31996268 DOI: 10.1186/S40478-020-0879-Z  0.614
2019 Guerreiro R, Escott-Price V, Hernandez DG, Kun-Rodrigues C, Ross OA, Orme T, Neto JL, Carmona S, Dehghani N, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, ... ... St George-Hyslop P, et al. Heritability and genetic variance of dementia with Lewy bodies. Neurobiology of Disease. PMID 30953760 DOI: 10.1016/J.Nbd.2019.04.004  0.553
2018 Kun-Rodrigues C, Orme T, Carmona S, Hernandez DG, Ross OA, Eicher JD, Shepherd C, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Dawson T, Rosenthal L, ... ... St George-Hyslop P, et al. A comprehensive screening of copy number variability in dementia with Lewy bodies. Neurobiology of Aging. PMID 30448004 DOI: 10.1016/J.Neurobiolaging.2018.10.019  0.536
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... St George-Hyslop P, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757  0.437
2018 Wang B, Bao S, Zhang Z, Zhou X, Wang J, Fan Y, Zhang Y, Li Y, Chen L, Jia Y, Li J, Li M, Zheng W, Mu N, Wang L, ... ... St George-Hyslop P, et al. A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population. Neurobiology of Aging. PMID 29656768 DOI: 10.1016/J.Neurobiolaging.2018.03.006  0.576
2018 Lautenschläger J, Stephens AD, Fusco G, Ströhl F, Curry N, Zacharopoulou M, Michel CH, Laine R, Nespovitaya N, Fantham M, Pinotsi D, Zago W, Fraser P, Tandon A, St George-Hyslop P, et al. C-terminal calcium binding of α-synuclein modulates synaptic vesicle interaction. Nature Communications. 9: 712. PMID 29459792 DOI: 10.1038/S41467-018-03111-4  0.357
2018 Guerreiro R, Ross OA, Kun-Rodrigues C, Hernandez DG, Orme T, Eicher JD, Shepherd CE, Parkkinen L, Darwent L, Heckman MG, Scholz SW, Troncoso JC, Pletnikova O, Ansorge O, Clarimon J, ... ... St George-Hyslop P, et al. Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. The Lancet. Neurology. 17: 64-74. PMID 29263008 DOI: 10.1016/S1474-4422(17)30400-3  0.517
2017 Vardarajan BN, Tosto G, Lefort R, Yu L, Bennett DA, De Jager PL, Barral S, Reyes-Dumeyer D, Nagy PL, Lee JH, Cheng R, Medrano M, Lantigua R, Rogaeva E, St George-Hyslop P, et al. Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease. Neurology. Genetics. 3: e178. PMID 28852706 DOI: 10.1212/Nxg.0000000000000178  0.583
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... St George-Hyslop P, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/Ng.3916  0.554
2017 Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, ... ... St George-Hyslop PH, et al. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 28183528 DOI: 10.1016/J.Jalz.2016.12.012  0.331
2016 Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, et al. The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration. Npj Genomic Medicine. 1: 16032. PMID 29263818 DOI: 10.1038/Npjgenmed.2016.32  0.57
2016 Zhang M, Schmitt-Ulms G, Sato C, Xi Z, Zhang Y, Zhou Y, St George-Hyslop P, Rogaeva E. Drug Repositioning for Alzheimer's Disease Based on Systematic 'omics' Data Mining. Plos One. 11: e0168812. PMID 28005991 DOI: 10.1371/Journal.Pone.0168812  0.482
2016 Cuccaro ML, Carney RM, Zhang Y, Bohm C, Kunkle BW, Vardarajan BN, Whitehead PL, Cukier HN, Mayeux R, St George-Hyslop P, Pericak-Vance MA. SORL1 mutations in early- and late-onset Alzheimer disease. Neurology. Genetics. 2: e116. PMID 27822510 DOI: 10.1212/Nxg.0000000000000116  0.323
2016 Lam B, Khan A, Keith J, Rogaeva E, Bilbao J, St George-Hyslop P, Ghani M, Freedman M, Stuss DT, Chow T, Black SE, Masellis M. Characterizing familial corticobasal syndrome due to Alzheimer's pathology and PSEN1 mutations. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 27743520 DOI: 10.1016/J.Jalz.2016.08.014  0.581
2016 Kun-Rodrigues C, Ross OA, Orme T, Shepherd C, Parkkinen L, Darwent L, Hernandez D, Ansorge O, Clark LN, Honig LS, Marder K, Lemstra A, Scheltens P, van der Flier W, Louwersheimer E, ... ... St George-Hyslop P, et al. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of Aging. PMID 27666590 DOI: 10.1016/J.Neurobiolaging.2016.08.023  0.506
2016 Ghani M, Sato C, Kakhki EG, Gibbs JR, Traynor B, St George-Hyslop P, Rogaeva E. Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer's disease data set. Neurobiology of Aging. PMID 27084067 DOI: 10.1016/J.Neurobiolaging.2016.03.009  0.547
2016 Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B, Uchitel OD, Nogués M, Silva E, Rojas G, Bagnatti P, Amengual A, Campos J, Rogaeva E, St George-Hyslop P, et al. Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiology of Aging. PMID 26925510 DOI: 10.1016/J.Neurobiolaging.2016.02.001  0.471
2015 Guerreiro R, Escott-Price V, Darwent L, Parkkinen L, Ansorge O, Hernandez DG, Nalls MA, Clark L, Honig L, Marder K, van der Flier W, Holstege H, Louwersheimer E, Lemstra A, Scheltens P, ... ... St George-Hyslop P, et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiology of Aging. PMID 26643944 DOI: 10.1016/J.Neurobiolaging.2015.10.028  0.548
2015 Ghani M, Reitz C, Cheng R, Vardarajan BN, Jun G, Sato C, Naj A, Rajbhandary R, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, ... ... St George-Hyslop P, et al. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals. Jama Neurology. PMID 26366463 DOI: 10.1001/Jamaneurol.2015.1700  0.595
2015 Tosto G, Fu H, Vardarajan BN, Lee JH, Cheng R, Reyes-Dumeyer D, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Elkind MS, Wright CB, Sacco RL, Pericak-Vance M, Farrer L, Rogaeva E, ... St George-Hyslop P, et al. F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease. Annals of Clinical and Translational Neurology. 2: 810-20. PMID 26339675 DOI: 10.1002/Acn3.223  0.566
2015 Vardarajan BN, Ghani M, Kahn A, Sheikh S, Sato C, Barral S, Lee JH, Cheng R, Reitz C, Lantigua R, Reyes-Dumeyer D, Medrano M, Jimenez-Velazquez IZ, Rogaeva E, St George-Hyslop P, et al. Rare coding mutations identified by sequencing of Alzheimer's disease GWAS loci. Annals of Neurology. PMID 26101835 DOI: 10.1002/Ana.24466  0.55
2015 Zhang M, Xi Z, Zinman L, Bruni AC, Maletta RG, Curcio SA, Rainero I, Rubino E, Pinessi L, Nacmias B, Sorbi S, Galimberti D, Lang AE, Fox S, Surace EI, ... ... St George-Hyslop P, et al. Mutation analysis of CHCHD10 in different neurodegenerative diseases. Brain : a Journal of Neurology. PMID 25833818 DOI: 10.1093/Brain/Awv082  0.46
2015 Bohm C, Chen F, Sevalle J, Qamar S, Dodd R, Li Y, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH. Current and future implications of basic and translational research on amyloid-β peptide production and removal pathways. Molecular and Cellular Neurosciences. 66: 3-11. PMID 25748120 DOI: 10.1016/J.Mcn.2015.02.016  0.331
2015 Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, ... ... St George-Hyslop P, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. Jama Neurology. 72: 209-16. PMID 25531812 DOI: 10.1001/Jamaneurol.2014.2157  0.57
2015 Vardarajan BN, Zhang Y, Lee JH, Cheng R, Bohm C, Ghani M, Reitz C, Reyes-Dumeyer D, Shen Y, Rogaeva E, St George-Hyslop P, Mayeux R. Coding mutations in SORL1 and Alzheimer disease. Annals of Neurology. 77: 215-27. PMID 25382023 DOI: 10.1002/Ana.24305  0.587
2015 Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, ... St George-Hyslop P, et al. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiology of Aging. 36: 545.e9-14. PMID 25174650 DOI: 10.1016/J.Neurobiolaging.2014.07.038  0.585
2014 Vardarajan BN, Schaid DJ, Reitz C, Lantigua R, Medrano M, Jiménez-Velázquez IZ, Lee JH, Ghani M, Rogaeva E, St George-Hyslop P, Mayeux RP. Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 25394174 DOI: 10.1038/Gim.2014.161  0.525
2014 Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, ... ... St George-Hyslop PH, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/Jamaneurol.2014.1491  0.539
2014 Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, ... St George-Hyslop P, et al. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Human Molecular Genetics. 23: 6139-46. PMID 24973356 DOI: 10.1093/Hmg/Ddu334  0.562
2014 Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... St George-Hyslop P, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1  0.541
2014 Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, ... ... St George-Hyslop P, et al. Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients. Human Molecular Genetics. 23: 5630-7. PMID 24908669 DOI: 10.1093/Hmg/Ddu279  0.439
2014 Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, ... ... St George-Hyslop P, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/Nature12825  0.57
2013 Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, ... ... St George-Hyslop P, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nature Genetics. 45: 1452-8. PMID 24162737 DOI: 10.1038/Ng.2802  0.553
2013 Ghani M, Sato C, Lee JH, Reitz C, Moreno D, Mayeux R, St George-Hyslop P, Rogaeva E. Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. Jama Neurology. 70: 1261-7. PMID 23978990 DOI: 10.1001/Jamaneurol.2013.3545  0.581
2013 Riudavets MA, Bartoloni L, Troncoso JC, Pletnikova O, St George-Hyslop P, Schultz M, Sevlever G, Allegri RF. Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. Brain Pathology (Zurich, Switzerland). 23: 595-600. PMID 23489366 DOI: 10.1111/Bpa.12051  0.396
2013 Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, ... ... St George-Hyslop P, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/Nejmoa1211851  0.592
2012 Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, St George-Hyslop P, Goldstein LE, Farrer LA. δ-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes. Plos One. 7: e43728. PMID 22984439 DOI: 10.1371/journal.pone.0043728  0.309
2012 Rubino E, Rainero I, Chiò A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L, et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology. 79: 1556-62. PMID 22972638 DOI: 10.1212/Wnl.0B013E31826E25Df  0.505
2012 Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, ... ... St George-Hyslop P, et al. Investigation of c9orf72 in 4 neurodegenerative disorders. Archives of Neurology. 69: 1583-90. PMID 22964832 DOI: 10.1001/Archneurol.2012.2016  0.534
2012 Barnett C, Grinberg Y, Ghani M, Rogaeva E, Katzberg H, St George-Hyslop P, Bril V. Fcγ receptor polymorphisms do not predict response to intravenous immunoglobulin in myasthenia gravis. Journal of Clinical Neuromuscular Disease. 14: 1-6. PMID 22922574 DOI: 10.1097/Cnd.0B013E31825C566B  0.46
2012 Hazrati LN, Van Cauwenberghe C, Brooks PL, Brouwers N, Ghani M, Sato C, Cruts M, Sleegers K, St George-Hyslop P, Van Broeckhoven C, Rogaeva E. Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism. Neurobiology of Aging. 33: 2949.e5-2949.e12. PMID 22819390 DOI: 10.1016/J.Neurobiolaging.2012.07.001  0.493
2012 Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, ... ... St George-Hyslop P, et al. Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy. Neurobiology of Aging. 33: 2948.e1-2948.e10. PMID 22819134 DOI: 10.1016/J.Neurobiolaging.2012.06.017  0.568
2012 Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, ... ... St George-Hyslop P, et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 79: 221-8. PMID 22722634 DOI: 10.1212/Wnl.0B013E3182605801  0.527
2012 Vardarajan BN, Bruesegem SY, Harbour ME, Inzelberg R, Friedland R, St George-Hyslop P, Seaman MN, Farrer LA. Identification of Alzheimer disease-associated variants in genes that regulate retromer function. Neurobiology of Aging. 33: 2231.e15-2231.e30. PMID 22673115 DOI: 10.1016/j.neurobiolaging.2012.04.020  0.356
2012 Ghani M, Pinto D, Lee JH, Grinberg Y, Sato C, Moreno D, Scherer SW, Mayeux R, St George-Hyslop P, Rogaeva E. Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda, Md.). 2: 71-8. PMID 22384383 DOI: 10.1534/G3.111.000869  0.544
2012 Bettens K, Brouwers N, Engelborghs S, Lambert JC, Rogaeva E, Vandenberghe R, Le Bastard N, Pasquier F, Vermeulen S, Van Dongen J, Mattheijssens M, Peeters K, Mayeux R, St George-Hyslop P, Amouyel P, et al. Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk. Molecular Neurodegeneration. 7: 3. PMID 22248099 DOI: 10.1186/1750-1326-7-3  0.56
2012 Reitz C, Cheng R, Schupf N, Lee JH, Mehta PD, Rogaeva E, St George-Hyslop P, Mayeux R. Association between variants in IDE-KIF11-HHEX and plasma amyloid β levels. Neurobiology of Aging. 33: 199.e13-7. PMID 20724036 DOI: 10.1016/J.Neurobiolaging.2010.07.005  0.486
2011 Pettersen JA, Patry DG, St George-Hyslop PH, Curry B. Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 38: 659-61. PMID 21672709  0.373
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, ... ... St George-Hyslop P, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/Ng.801  0.451
2011 Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Zou F, Bettens K, Sleegers K, Tan EK, Kimura R, Shibata N, Arai H, Kamboh MI, Prince JA, Maier W, ... ... St George-Hyslop PH, et al. Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Archives of Neurology. 68: 99-106. PMID 21220680 DOI: 10.1001/Archneurol.2010.346  0.546
2011 Ehsani S, Huo H, Salehzadeh A, Pocanschi CL, Watts JC, Wille H, Westaway D, Rogaeva E, St George-Hyslop PH, Schmitt-Ulms G. Family reunion--the ZIP/prion gene family. Progress in Neurobiology. 93: 405-20. PMID 21163327 DOI: 10.1016/J.Pneurobio.2010.12.001  0.506
2011 Lee JH, Cheng R, Barral S, Reitz C, Medrano M, Lantigua R, Jiménez-Velazquez IZ, Rogaeva E, St George-Hyslop PH, Mayeux R. Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Archives of Neurology. 68: 320-8. PMID 21059989 DOI: 10.1001/Archneurol.2010.292  0.543
2010 Pollen DA, Baker S, Hinerfeld D, Swearer J, Evans BA, Evans JE, Caselli R, Rogaeva E, St George-Hyslop P, Moonis M. Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4. Alzheimer's Research & Therapy. 2: 31. PMID 21062519 DOI: 10.1186/Alzrt55  0.469
2010 Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C. Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). Journal of Alzheimer's Disease : Jad. 22: 1123-33. PMID 20930269 DOI: 10.3233/Jad-2010-101413  0.59
2010 Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, et al. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of Neurology. 67: 1473-84. PMID 20697030 DOI: 10.1001/Archneurol.2010.201  0.527
2010 Butler R, Beattie BL, Thong UP, Dwosh E, Guimond C, Feldman HH, Hsiung GY, Rogaeva E, St George-Hyslop P, Sadovnick AD. A novel PS1 gene mutation in a large Aboriginal kindred. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 37: 359-64. PMID 20481270 DOI: 10.1017/S0317167100010258  0.58
2010 Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, Munhoz RP, Rogaeva EA, St George-Hyslop PH, Bernardi G, Kawarai T. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 133: 591-8. PMID 20110243 DOI: 10.1093/Brain/Awp325  0.551
2009 Evans BA, Evans JE, Baker SP, Kane K, Swearer J, Hinerfeld D, Caselli R, Rogaeva E, St George-Hyslop P, Moonis M, Pollen DA. Long-term statin therapy and CSF cholesterol levels: implications for Alzheimer's disease. Dementia and Geriatric Cognitive Disorders. 27: 519-24. PMID 19478483 DOI: 10.1159/000221835  0.464
2009 Mayeux R, St George-Hyslop P. Brain traffic: subcellular transport of the amyloid precursor protein. Archives of Neurology. 66: 433-4. PMID 19364927 DOI: 10.1001/archneurol.2009.29  0.347
2008 Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Nørremølle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE. A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 15: 1135-9. PMID 18727676 DOI: 10.1111/j.1468-1331.2008.02256.x  0.39
2008 Pettersen JA, Sathiyamoorthy G, Gao FQ, Szilagyi G, Nadkarni NK, St George-Hyslop P, Rogaeva E, Black SE. Microbleed topography, leukoaraiosis, and cognition in probable Alzheimer disease from the Sunnybrook dementia study. Archives of Neurology. 65: 790-5. PMID 18541799 DOI: 10.1001/Archneur.65.6.790  0.508
2008 Lee JH, Cheng R, Rogaeva E, Meng Y, Stern Y, Santana V, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Farrer LA, St George-Hyslop P, Mayeux R. Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. Neurogenetics. 9: 127-38. PMID 18340469 DOI: 10.1007/S10048-008-0122-8  0.554
2008 Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L, Hosford D, Barnes MR, Briley JD, Borrie M, Coletta N, Delisle R, Dhalla D, Ehm MG, Feldman HH, ... ... St George-Hyslop PH, et al. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Archives of Neurology. 65: 45-53. PMID 17998437 DOI: 10.1001/Archneurol.2007.3  0.323
2008 Lee JH, Barral S, Cheng R, Chacon I, Santana V, Williamson J, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, et al. Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease. Neurogenetics. 9: 51-60. PMID 17940814 DOI: 10.1007/S10048-007-0103-3  0.503
2007 Hinerfeld DA, Moonis M, Swearer JM, Baker SP, Caselli RJ, Rogaeva E, St George-Hyslop P, Pollen DA. Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects. Archives of Neurology. 64: 1672-3. PMID 17998454 DOI: 10.1001/Archneur.64.11.1672  0.446
2007 Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, ... ... St George-Hyslop P, et al. Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology. 69: 140-7. PMID 17620546 DOI: 10.1212/01.wnl.0000265220.64396.b4  0.565
2007 Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, Rogaeva E, Wakutani Y, Farrer L, St George-Hyslop P, Mayeux R. The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Archives of Neurology. 64: 501-6. PMID 17420311 DOI: 10.1001/Archneur.64.4.501  0.536
2007 Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M. A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia. Journal of Neurology. 254: 972-4. PMID 17380240 DOI: 10.1007/S00415-006-0446-Y  0.502
2007 Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, ... ... St George-Hyslop P, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics. 39: 168-77. PMID 17220890 DOI: 10.1038/Ng1943  0.564
2006 Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, ... ... St George-Hyslop P, et al. Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. Bmc Neurology. 6: 44. PMID 17166276 DOI: 10.1186/1471-2377-6-44  0.54
2006 Klünemann HH, Fronhöfer W, Werner-Füchtenbusch D, Grasbon-Frodl E, Kloiber S, Wurster HW, St George-Hyslop PH, Rogaeva E. Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia. Alzheimer Disease and Associated Disorders. 20: 291-4. PMID 17132975 DOI: 10.1097/01.wad.0000213855.81989.c8  0.597
2006 Lee JH, Cheng R, Santana V, Williamson J, Lantigua R, Medrano M, Arriaga A, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R. Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease. Archives of Neurology. 63: 1591-8. PMID 17101828 DOI: 10.1001/Archneur.63.11.1591  0.493
2006 Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E. T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. Archives of Neurology. 63: 1483-5. PMID 17030667 DOI: 10.1001/Archneur.63.10.1483  0.502
2006 Masellis M, Momeni P, Meschino W, Heffner R, Elder J, Sato C, Liang Y, St George-Hyslop P, Hardy J, Bilbao J, Black S, Rogaeva E. Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome. Brain : a Journal of Neurology. 129: 3115-23. PMID 17030534 DOI: 10.1093/Brain/Awl276  0.561
2006 Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, ... ... St George-Hyslop P, et al. Genetic variability in CHMP2B and frontotemporal dementia. Neuro-Degenerative Diseases. 3: 129-33. PMID 16954699 DOI: 10.1159/000094771  0.575
2006 Wislet-Gendebien S, D'Souza C, Kawarai T, St George-Hyslop P, Westaway D, Fraser P, Tandon A. Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes. The Journal of Biological Chemistry. 281: 32148-55. PMID 16926154 DOI: 10.1074/Jbc.M605965200  0.401
2006 Rogaeva E, Zadikoff C, Ponesse J, Schmitt-Ulms G, Kawarai T, Sato C, Salehi-Rad S, St George-Hyslop P, Lang AE. Childhood onset in familial prion disease with a novel mutation in the PRNP gene. Archives of Neurology. 63: 1016-21. PMID 16831973 DOI: 10.1001/Archneur.63.7.1016  0.582
2006 Kaneko S, Kawarai T, Yip E, Salehi-Rad S, Sato C, Orlacchio A, Bernardi G, Liang Y, Hasegawa H, Rogaeva E, St George-Hyslop P. Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 1531-3. PMID 16795073 DOI: 10.1002/Mds.21005  0.533
2006 Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, ... ... St George-Hyslop P, et al. TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. Nature. 440: 1208-12. PMID 16641999 DOI: 10.1038/Nature04667  0.575
2006 Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE. Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients. Movement Disorders : Official Journal of the Movement Disorder Society. 21: 875-9. PMID 16547921 DOI: 10.1002/Mds.20854  0.525
2006 Munhoz RP, Kawarai T, Teive HA, Raskin S, Sato C, Liang Y, St George-Hyslop PH, Rogaeva E. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus). Movement Disorders : Official Journal of the Movement Disorder Society. 21: 279-81. PMID 16267846 DOI: 10.1002/Mds.20775  0.541
2006 Shibata N, Kawarai T, Lee JH, Lee HS, Shibata E, Sato C, Liang Y, Duara R, Mayeux RP, St George-Hyslop PH, Rogaeva E. Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. Neuroscience Letters. 391: 142-6. PMID 16157450 DOI: 10.1016/J.Neulet.2005.08.048  0.559
2006 St George-Hyslop PH. Genetics and neurobiology of Alzheimer's disease and frontotemporal dementias Principles of Molecular Medicine. 1130-1141. DOI: 10.1007/978-1-59259-963-9_118  0.313
2005 Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology. 65: 696-700. PMID 16157901 DOI: 10.1212/01.wnl.0000167552.79769.b3  0.529
2005 Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, Chen F, Gu Y, Hasegawa H, Salehi-Rad S, Wang L, Rogaeva E, Fraser P, Robinson B, St George-Hyslop P, et al. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. The Journal of Biological Chemistry. 280: 34025-32. PMID 16079129 DOI: 10.1074/Jbc.M505143200  0.603
2005 Moonis M, Swearer JM, Dayaw MP, St George-Hyslop P, Rogaeva E, Kawarai T, Pollen DA. Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline. Neurology. 65: 323-5. PMID 16043812 DOI: 10.1212/01.wnl.0000171397.32851.bc  0.541
2005 St George-Hyslop PH, Petit A. Molecular biology and genetics of Alzheimer's disease. Comptes Rendus Biologies. 328: 119-30. PMID 15770998 DOI: 10.1016/j.crvi.2004.10.013  0.4
2005 Sato C, Morgan A, Lang AE, Salehi-Rad S, Kawarai T, Meng Y, Ray PN, Farrer LA, St George-Hyslop P, Rogaeva E. Analysis of the glucocerebrosidase gene in Parkinson's disease. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 367-70. PMID 15517592 DOI: 10.1002/Mds.20319  0.494
2004 Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, ... ... St George-Hyslop P, et al. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology. 61: 1898-904. PMID 15596610 DOI: 10.1001/Archneur.61.12.1898  0.663
2004 Klünemann HH, Rogaeva E, Neumann M, Kretzschmar HA, Kandel M, Toulina A, Sato C, Salehi-Rad S, Pfister K, Klein HE, St George-Hyslop PH. Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease. Alzheimer Disease and Associated Disorders. 18: 256-8. PMID 15592140  0.559
2004 Groen JL, Kawarai T, Toulina A, Rivoiro C, Salehi-Rad S, Sato C, Morgan A, Liang Y, Postuma RB, St George-Hyslop P, Lang AE, Rogaeva E. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Neuroscience Letters. 372: 226-9. PMID 15542245 DOI: 10.1016/J.Neulet.2004.09.043  0.487
2004 Luis CA, Barker WW, Loewenstein DA, Crum TA, Rogaeva E, Kawarai T, St George-Hyslop P, Duara R. Conversion to dementia among two groups with cognitive impairment. A preliminary report. Dementia and Geriatric Cognitive Disorders. 18: 307-13. PMID 15305108 DOI: 10.1159/000080124  0.499
2004 Lee JH, Mayeux R, Mayo D, Mo J, Santana V, Williamson J, Flaquer A, Ciappa A, Rondon H, Estevez P, Lantigua R, Kawarai T, Toulina A, Medrano M, Torres M, ... ... St George-Hyslop P, et al. Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics. Molecular Psychiatry. 9: 1042-51. PMID 15241431 DOI: 10.1038/Sj.Mp.4001538  0.517
2004 Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G. Hereditary spastic paraplegia: clinical genetic study of 15 families. Archives of Neurology. 61: 849-55. PMID 15210521 DOI: 10.1001/archneur.61.6.849  0.338
2004 Orlacchio A, Kawarai T, Polidoro M, Paterson AD, Rogaeva E, Orlacchio A, St George-Hyslop PH, Bernardi G. Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene. Neuroscience Letters. 363: 49-53. PMID 15157994 DOI: 10.1016/J.Neulet.2004.03.044  0.56
2003 Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH. PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. Neurology. 61: 1005-7. PMID 14557582 DOI: 10.1212/Wnl.61.7.1005  0.619
2003 Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Annals of Neurology. 54: 271-4. PMID 12891685 DOI: 10.1002/Ana.10663  0.506
2003 Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, Medeiros H, St George-Hyslop PH, Lang AE. Benign hereditary chorea: clinical, genetic, and pathological findings. Annals of Neurology. 54: 244-7. PMID 12891678 DOI: 10.1002/Ana.10637  0.531
2003 Tandon A, Yu H, Wang L, Rogaeva E, Sato C, Chishti MA, Kawarai T, Hasegawa H, Chen F, Davies P, Fraser PE, Westaway D, St George-Hyslop PH. Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles. Journal of Neurochemistry. 86: 572-81. PMID 12859671 DOI: 10.1046/J.1471-4159.2003.01865.X  0.615
2003 Di Natale M, Perri M, Kawarai T, Maletta R, Tomaino C, Sato C, Nacmias B, Shibata N, Sorbi S, St George-Hyslop PH, Bruni AC, Rogaeva E. Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population. Neuroscience Letters. 343: 210-2. PMID 12770698 DOI: 10.1016/S0304-3940(03)00335-5  0.571
2003 Chen F, Tandon A, Sanjo N, Gu YJ, Hasegawa H, Arawaka S, Lee FJ, Ruan X, Mastrangelo P, Erdebil S, Wang L, Westaway D, Mount HT, Yankner B, Fraser PE, ... St George-Hyslop P, et al. Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain. The Journal of Biological Chemistry. 278: 19974-9. PMID 12646573 DOI: 10.1074/Jbc.M210049200  0.448
2003 Gu Y, Chen F, Sanjo N, Kawarai T, Hasegawa H, Duthie M, Li W, Ruan X, Luthra A, Mount HT, Tandon A, Fraser PE, St George-Hyslop P. APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes. The Journal of Biological Chemistry. 278: 7374-80. PMID 12471034 DOI: 10.1074/Jbc.M209499200  0.448
2002 Liauw J, Nguyen V, Huang J, St George-Hyslop P, Rozmahel R. Differential display analysis of presenilin 1-deficient mouse brains. Brain Research. Molecular Brain Research. 109: 56-62. PMID 12531515 DOI: 10.1016/S0169-328X(02)00491-6  0.312
2002 Arawaka S, Hasegawa H, Tandon A, Janus C, Chen F, Yu G, Kikuchi K, Koyama S, Kato T, Fraser PE, St George-Hyslop P. The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein. Journal of Neurochemistry. 83: 1065-71. PMID 12437577 DOI: 10.1046/J.1471-4159.2002.01207.X  0.442
2002 Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology. 59: 1395-401. PMID 12427890 DOI: 10.1212/01.Wnl.0000031423.43482.19  0.518
2002 Orlacchio A, Kawarai T, Polidoro M, Stefani A, Orlacchio A, St George-Hyslop PH, Bernardi G. Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms. Neuroscience Letters. 333: 115-8. PMID 12419494 DOI: 10.1016/S0304-3940(02)01022-4  0.386
2002 Taddei K, Fisher C, Laws SM, Martins G, Paton A, Clarnette RM, Chung C, Brooks WS, Hallmayer J, Miklossy J, Relkin N, St George-Hyslop PH, Gandy SE, Martins RN. Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population. Molecular Psychiatry. 7: 776-81. PMID 12192622 DOI: 10.1038/Sj.Mp.4001072  0.373
2002 Yang DS, Tandon A, Chen F, Yu G, Yu H, Arawaka S, Hasegawa H, Duthie M, Schmidt SD, Ramabhadran TV, Nixon RA, Mathews PM, Gandy SE, Mount HT, St George-Hyslop P, et al. Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins. The Journal of Biological Chemistry. 277: 28135-42. PMID 12032140 DOI: 10.1074/Jbc.M110871200  0.44
2002 Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. American Journal of Human Genetics. 70: 1568-74. PMID 11992262 DOI: 10.1086/340732  0.4
2001 Rogaeva E, Tandon A, St George-Hyslop PH. Genetic markers in the diagnosis of Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 3: 293-304. PMID 12214050 DOI: 10.3233/Jad-2001-3304  0.68
2001 Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song YQ, Sato C, Kawarai T, ... ... St George-Hyslop P, et al. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. Jama. 286: 2257-63. PMID 11710891 DOI: 10.1001/Jama.286.18.2257  0.607
2001 Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology. 57: 621-5. PMID 11524469 DOI: 10.1212/WNL.57.4.621  0.58
2001 Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Yu C, Janus C, Lee J, ... ... St George-Hyslop PH, et al. Nicastrin binds to membrane-tethered Notch. Nature Cell Biology. 3: 751-4. PMID 11483961 DOI: 10.1038/35087069  0.605
2001 Fraser PE, Yu G, Lévesque L, Nishimura M, Yang DS, Mount HT, Westaway D, St George-Hyslop PH. Presenilin function: connections to Alzheimer's disease and signal transduction. Biochemical Society Symposium. 89-100. PMID 11447843 DOI: 10.1042/Bst028A016  0.332
2001 Ishii K, Lippa C, Tomiyama T, Miyatake F, Ozawa K, Tamaoka A, Hasegawa T, Fraser PE, Shoji S, Nee LE, Pollen DA, St George-Hyslop PH, Ii K, Ohtake T, Kalaria RN, et al. Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition. Neurobiology of Aging. 22: 367-76. PMID 11378241 DOI: 10.1016/S0197-4580(01)00216-0  0.354
2001 Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P. Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. American Journal of Human Genetics. 68: 355-63. PMID 11156533 DOI: 10.1086/318188  0.347
2001 Sato N, Imaizumi K, Manabe T, Taniguchi M, Hitomi J, Katayama T, Yoneda T, Morihara T, Yasuda Y, Takagi T, Kudo T, Tsuda T, Itoyama Y, Makifuchi T, Fraser PE, ... St George-Hyslop P, et al. Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2. The Journal of Biological Chemistry. 276: 2108-14. PMID 11031265 DOI: 10.1074/Jbc.M006886200  0.324
2000 Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser P, Haass C, ... St George-Hyslop P, et al. Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes. Acta Neurologica Scandinavica. Supplementum. 176: 6-11. PMID 11261807 DOI: 10.1034/J.1600-0404.2000.00301.X  0.571
2000 Zhang DM, Levitan D, Yu G, Nishimura M, Chen F, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Liang Y, Holmes E, Milman P, Sato C, ... ... St George-Hyslop P, et al. Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans. Neuroreport. 11: 3227-30. PMID 11043553 DOI: 10.1097/00001756-200009280-00035  0.615
2000 Devi G, Fotiou A, Jyrinji D, Tycko B, DeArmand S, Rogaeva E, Song YQ, Medieros H, Liang Y, Orlacchio A, Williamson J, St George-Hyslop P, Mayeux R. Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease. Archives of Neurology. 57: 1454-7. PMID 11030797 DOI: 10.1001/Archneur.57.10.1454  0.602
2000 Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, ... ... St George-Hyslop P, et al. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature. 407: 48-54. PMID 10993067 DOI: 10.1038/35024009  0.585
2000 Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, Nee LE, St George-Hyslop P, Pollen DA, Drachman DA. Familial Alzheimer's disease: site of mutation influences clinical phenotype. Annals of Neurology. 48: 376-9. PMID 10976645 DOI: 10.1002/1531-8249(200009)48:3<376::Aid-Ana13>3.0.Co;2-U  0.385
2000 Tandon A, Rogaeva E, Mullan M, St George-Hyslop PH. Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins. Current Opinion in Neurology. 13: 377-84. PMID 10970053 DOI: 10.1097/00019052-200008000-00003  0.676
2000 Chen F, Yang DS, Petanceska S, Yang A, Tandon A, Yu G, Rozmahel R, Ghiso J, Nishimura M, Zhang DM, Kawarai T, Levesque G, Mills J, Levesque L, Song YQ, ... ... St George-Hyslop P, et al. Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells. The Journal of Biological Chemistry. 275: 36794-802. PMID 10962005 DOI: 10.1074/Jbc.M006986200  0.593
2000 Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop P, El Hachimi KH, Foncin JF, Robinson RG, Bruni AC. Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation. The Journal of Neuropsychiatry and Clinical Neurosciences. 12: 359-63. PMID 10956569 DOI: 10.1176/Jnp.12.3.359  0.564
2000 Fraser PE, Yang DS, Yu G, Lévesque L, Nishimura M, Arawaka S, Serpell LC, Rogaeva E, St George-Hyslop P. Presenilin structure, function and role in Alzheimer disease. Biochimica Et Biophysica Acta. 1502: 1-15. PMID 10899427 DOI: 10.1016/S0925-4439(00)00028-4  0.574
2000 Kertesz A, Kawarai T, Rogaeva E, St George-Hyslop P, Poorkaj P, Bird TD, Munoz DG. Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology. 54: 818-27. PMID 10690970 DOI: 10.1212/Wnl.54.4.818  0.571
2000 Farrer LA, Sherbatich T, Keryanov SA, Korovaitseva GI, Rogaeva EA, Petruk S, Premkumar S, Moliaka Y, Song YQ, Pei Y, Sato C, Selezneva ND, Voskresenskaya S, Golimbet V, Sorbi S, ... ... St George-Hyslop PH, et al. Association between angiotensin-converting enzyme and Alzheimer disease. Archives of Neurology. 57: 210-4. PMID 10681079 DOI: 10.1001/Archneur.57.2.210  0.518
1999 Van Uden E, Carlson G, St George-Hyslop P, Westaway D, Orlando R, Mallory M, Rockenstein E, Masliah E. Aberrant presenilin-1 expression downregulates LDL receptor-related protein (LRP): is LRP central to Alzheimer's disease pathogenesis? Molecular and Cellular Neurosciences. 14: 129-40. PMID 10479411 DOI: 10.1006/Mcne.1999.0772  0.333
1999 De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, et al. Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Human Molecular Genetics. 8: 1529-40. PMID 10401002 DOI: 10.1093/Hmg/8.8.1529  0.576
1999 Swartz RH, Black SE, St George-Hyslop P. Apolipoprotein E and Alzheimer's disease: a genetic, molecular and neuroimaging review. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 26: 77-88. PMID 10352866  0.335
1999 Rogaeva EA, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, Song Y, Hill DL, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M, ... ... St George-Hyslop PH, et al. An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease. Nature Genetics. 22: 19-22. PMID 10319855 DOI: 10.1038/8729  0.556
1999 Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D, Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L, VanderVere P, Bayne ML, ... ... St George-Hyslop P, et al. Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin. Journal of Neurochemistry. 72: 999-1008. PMID 10037471 DOI: 10.1046/J.1471-4159.1999.0720999.X  0.492
1999 Nishimura M, Yu G, Levesque G, Zhang DM, Ruel L, Chen F, Milman P, Holmes E, Liang Y, Kawarai T, Jo E, Supala A, Rogaeva E, Xu DM, Janus C, ... ... St George-Hyslop P, et al. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nature Medicine. 5: 164-9. PMID 9930863 DOI: 10.1038/5526  0.532
1998 Mattila KM, Forsell C, Pirttilä T, Rinne JO, Lehtimäki T, Röyttä M, Lilius L, Eerola A, St George-Hyslop PH, Frey H, Lannfelt L. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease. Annals of Neurology. 44: 965-7. PMID 9851443 DOI: 10.1002/Ana.410440617  0.408
1998 Ramirez-Dueñas MG, Rogaeva EA, Leal CA, Lin C, Ramirez-Casillas GA, Hernandez-Romo JA, St George-Hyslop PH, Cantu JM. A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. Annales De Gã©Nã©Tique. 41: 149-53. PMID 9833068  0.372
1998 Farrer LA, Abraham CR, Haines JL, Rogaeva EA, Song Y, McGraw WT, Brindle N, Premkumar S, Scott WK, Yamaoka LH, Saunders AM, Roses AD, Auerbach SA, Sorbi S, Duara R, ... ... St George-Hyslop PH, et al. Association between bleomycin hydrolase and Alzheimer's disease in caucasians. Annals of Neurology. 44: 808-11. PMID 9818937 DOI: 10.1002/Ana.410440515  0.553
1998 Rogaeva E, Premkumar S, Song Y, Sorbi S, Brindle N, Paterson A, Duara R, Levesque G, Yu G, Nishimura M, Ikeda M, O'Toole C, Kawarai T, Jorge R, Vilarino D, ... ... St George-Hyslop PH, et al. Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity. Jama. 280: 614-8. PMID 9718052 DOI: 10.1001/Jama.280.7.614  0.553
1998 Song YQ, Rogaeva E, Premkumar S, Brindle N, Kawarai T, Orlacchio A, Yu G, Levesque G, Nishimura M, Ikeda M, Pei Y, O'Toole C, Duara R, Barker W, Sorbi S, ... ... St George-Hyslop P, et al. Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE. Neuroscience Letters. 250: 189-92. PMID 9708864 DOI: 10.1016/S0304-3940(98)00470-4  0.545
1998 Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, Rogaeva E, Xu D, Liang Y, Duthie M, St George-Hyslop PH, Fraser PE. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin. The Journal of Biological Chemistry. 273: 16470-5. PMID 9632714 DOI: 10.1074/Jbc.273.26.16470  0.465
1998 Tamaoka A, Fraser PE, Ishii K, Sahara N, Ozawa K, Ikeda M, Saunders AM, Komatsuzaki Y, Sherrington R, Levesque G, Yu G, Rogaeva E, Shoji S, Nee LE, Pollen DA, ... ... St George-Hyslop PH, et al. Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease. Brain Research. Molecular Brain Research. 56: 178-85. PMID 9602117 DOI: 10.1016/S0169-328X(98)00044-8  0.532
1998 Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. Kidney International. 53: 1127-32. PMID 9573526 DOI: 10.1046/J.1523-1755.1998.00890.X  0.319
1998 St George-Hyslop PH. Role of genetics in tests of genotype, status, and disease progression in early-onset Alzheimer's disease. Neurobiology of Aging. 19: 133-7. PMID 9558149  0.304
1998 Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P. Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease. Human Molecular Genetics. 7: 933-5. PMID 9536099 DOI: 10.1093/Hmg/7.5.933  0.567
1998 Sato S, Kamino K, Miki T, Doi A, Ii K, St George-Hyslop PH, Ogihara T, Sakaki Y. Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease. Human Mutation. S91-4. PMID 9452052  0.388
1998 Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Human Molecular Genetics. 7: 43-51. PMID 9384602 DOI: 10.1093/Hmg/7.1.43  0.396
1997 Okochi M, Ishii K, Usami M, Sahara N, Kametani F, Tanaka K, Fraser PE, Ikeda M, Saunders AM, Hendriks L, Shoji SI, Nee LE, Martin JJ, Van Broeckhoven C, St George-Hyslop PH, et al. Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations. Febs Letters. 418: 162-6. PMID 9414118 DOI: 10.1016/S0014-5793(97)01378-1  0.304
1997 Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop PH, Lannfelt L. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease. Neuroscience Letters. 234: 3-6. PMID 9347932 DOI: 10.1016/S0304-3940(97)00603-4  0.373
1997 Podlisny MB, Citron M, Amarante P, Sherrington R, Xia W, Zhang J, Diehl T, Levesque G, Fraser P, Haass C, Koo EH, Seubert P, St George-Hyslop P, Teplow DB, Selkoe DJ. Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue. Neurobiology of Disease. 3: 325-37. PMID 9173929 DOI: 10.1006/Nbdi.1997.0129  0.311
1997 Boulianne GL, Livne-Bar I, Humphreys JM, Liang Y, Lin C, Rogaev E, St George-Hyslop P. Cloning and characterization of the Drosophila presenilin homologue. Neuroreport. 8: 1025-9. PMID 9141085  0.349
1997 Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, Kanai M, Shoji M, St George-Hyslop PH, Itoyama Y. A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology. 48: 1118-20. PMID 9109915  0.355
1997 Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K, Lin C, Lukiw WJ, de Jong PJ, Fraser PE, Rommens JM, St George-Hyslop P. Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease. Genomics. 40: 415-24. PMID 9073509 DOI: 10.1006/Geno.1996.4523  0.502
1997 Post SG, Whitehouse PJ, Binstock RH, Bird TD, Eckert SK, Farrer LA, Fleck LM, Gaines AD, Juengst ET, Karlinsky H, Miles S, Murray TH, Quaid KA, Relkin NR, Roses AD, ... St George-Hyslop PH, et al. The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. Jama. 277: 832-6. PMID 9052715 DOI: 10.1001/Jama.1997.03540340066035  0.31
1996 Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, ... ... St George-Hyslop PH, et al. The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients. Annals of Neurology. 40: 912-7. PMID 9007097 DOI: 10.1002/Ana.410400614  0.599
1996 Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, ... ... St George-Hyslop PH, et al. Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. Human Molecular Genetics. 5: 985-8. PMID 8817335 DOI: 10.1093/Hmg/5.7.985  0.601
1996 Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, ... ... St George-Hyslop PH, et al. Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Human Molecular Genetics. 5: 923-32. PMID 8817326 DOI: 10.1093/Hmg/5.7.923  0.437
1996 Kamino K, Sato S, Sakaki Y, Yoshiiwa A, Nishiwaki Y, Takeda M, Tanabe H, Nishimura T, Ii K, St George-Hyslop PH, Miki T, Ogihara T. Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families. Neuroscience Letters. 208: 195-8. PMID 8733303  0.388
1996 Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, Turaeva S, Chumakov I, St George-Hyslop P, Ginter EK. Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Human Molecular Genetics. 5: 699-703. PMID 8733140 DOI: 10.1093/hmg/5.5.699  0.524
1995 Chen X, de Silva HA, Pettenati MJ, Rao PN, St George-Hyslop P, Roses AD, Xia Y, Horsburgh K, Uéda K, Saitoh T. The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis. Genomics. 26: 425-7. PMID 7601479 DOI: 10.1016/0888-7543(95)80237-G  0.32
1995 Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, ... ... St George-Hyslop PH, et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature. 375: 754-60. PMID 7596406 DOI: 10.1038/375754A0  0.62
1995 Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE. Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Annals of Neurology. 38: 684-7. PMID 7574470 DOI: 10.1002/ana.410380422  0.519
1994 Lang AE, Rogaeva EA, Tsuda T, Hutterer J, St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Annals of Neurology. 36: 443-7. PMID 8080254 DOI: 10.1002/ana.410360318  0.523
1993 Tupler R, Rogaeva E, Vaula G, Mortilla M, Lukiw W, Liang Y, Hancock R, Rogaev E, St George-Hyslop P. A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene. Human Molecular Genetics. 2: 620. PMID 8518820 DOI: 10.1093/Hmg/2.5.620  0.499
1993 Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, ... ... St George-Hyslop PH, et al. Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease. Neurology. 43: 2275-9. PMID 8232942 DOI: 10.1212/Wnl.43.11.2275  0.538
1993 Rogaev EI, Rogaeva EA, Ginter EK, Korovaitseva GI, Farrer LA, Shlensky AB, Pritkov AN, Mordovtsev VN, St George-Hyslop PH. Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Nature Genetics. 5: 158-62. PMID 7504553 DOI: 10.1038/ng1093-158  0.521
1992 Rogaev E, Rogaeva E, Lukiw WJ, Vaula G, Liang Y, Hancock R, McLachlan DC, St George-Hyslop PH. An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene. Human Molecular Genetics. 1: 781. PMID 1302625 DOI: 10.1093/Hmg/1.9.781  0.434
1991 Kumar A, Schapiro MB, Grady CL, Matocha MF, Haxby JV, Moore AM, Luxenberg JS, St George-Hyslop PH, Robinette CD, Ball MJ. Anatomic, metabolic, neuropsychological, and molecular genetic studies of three pairs of identical twins discordant for dementia of the Alzheimer's type. Archives of Neurology. 48: 160-8. PMID 1993007 DOI: 10.1001/Archneur.1991.00530140052017  0.315
1989 St George-Hyslop PH, Tanzi RE, Haines JL, Polinsky RJ, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. European Neurology. 29: 25-7. PMID 2693103 DOI: 10.1159/000116477  0.36
1989 St George-Hyslop PH, Haines JL, Polinsky RJ, Tanzi RE, Farrer L, Myers RH, Gusella JF. Molecular genetics of familial Alzheimer's disease. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 16: 465-7. PMID 2680005 DOI: 10.1017/S0317167100029772  0.32
1988 St. George-Hyslop PH, Haines J, Polinsky R, Heston L, Sorbi S, Growdon J, Hardy J, Anvert M, Foncin J, Frommelt P. MOLECULAR GENETIC APPROACHES TO AUTOSOMAL DOMINANT FAMILIAL ALZHEIMER??S DISEASE Alzheimer Disease & Associated Disorders. 2: 274. DOI: 10.1097/00002093-198802030-00123  0.311
1987 St George-Hyslop PH, Tanzi RE, Polinsky RJ, Neve RL, Pollen D, Drachman D, Growdon J, Cupples LA, Nee L, Myers RH. Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease. Science (New York, N.Y.). 238: 664-6. PMID 2890206 DOI: 10.1126/Science.2890206  0.359
1987 St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (New York, N.Y.). 235: 885-90. PMID 2880399 DOI: 10.1126/Science.2880399  0.332
Low-probability matches (unlikely to be authored by this person)
2015 Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, ... ... St George-Hyslop PH, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry. PMID 25778476 DOI: 10.1038/Mp.2015.23  0.3
2004 Harwood DG, Barker WW, Ownby RL, St George-Hyslop P, Mullan M, Duara R. Apolipoprotein E polymorphism and age of onset for Alzheimer's disease in a bi-ethnic sample. International Psychogeriatrics / Ipa. 16: 317-26. PMID 15559755 DOI: 10.1017/S104161020400033X  0.299
1987 Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science (New York, N.Y.). 235: 880-4. PMID 2949367 DOI: 10.1126/Science.2949367  0.299
2006 McLaurin J, Kierstead ME, Brown ME, Hawkes CA, Lambermon MH, Phinney AL, Darabie AA, Cousins JE, French JE, Lan MF, Chen F, Wong SS, Mount HT, Fraser PE, Westaway D, ... St George-Hyslop P, et al. Cyclohexanehexol inhibitors of Abeta aggregation prevent and reverse Alzheimer phenotype in a mouse model. Nature Medicine. 12: 801-8. PMID 16767098 DOI: 10.1038/Nm1423  0.299
2007 Meng Y, Lee JH, Cheng R, St George-Hyslop P, Mayeux R, Farrer LA. Association between SORL1 and Alzheimer's disease in a genome-wide study. Neuroreport. 18: 1761-4. PMID 18090307 DOI: 10.1097/WNR.0b013e3282f13e7a  0.298
2003 Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra? Science (New York, N.Y.). 302: 822-6. PMID 14593167 DOI: 10.1126/science.1092132  0.297
2011 Yang DS, Stavrides P, Mohan PS, Kaushik S, Kumar A, Ohno M, Schmidt SD, Wesson D, Bandyopadhyay U, Jiang Y, Pawlik M, Peterhoff CM, Yang AJ, Wilson DA, St George-Hyslop P, et al. Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits. Brain : a Journal of Neurology. 134: 258-77. PMID 21186265 DOI: 10.1093/Brain/Awq341  0.297
1995 St George-Hyslop P. Genetic determinants of Alzheimer disease. Progress in Clinical and Biological Research. 393: 139-45. PMID 8545447  0.296
2015 Satoh K, Abe-Dohmae S, Yokoyama S, St George-Hyslop P, Fraser PE. ATP-binding Cassette Transporter A7 (ABCA7) Loss of Function Alters Alzheimer Amyloid Processing. The Journal of Biological Chemistry. 290: 24152-65. PMID 26260791 DOI: 10.1074/Jbc.M115.655076  0.295
1995 Young K, Jones CK, Piccardo P, Lazzarini A, Golbe LI, Zimmerman TR, Dickson DW, McLachlan DC, St George-Hyslop P, Lennox A. Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Neurology. 45: 1127-34. PMID 7783876 DOI: 10.1212/Wnl.45.6.1127  0.293
2005 Ikeda M, Shoji M, Kawarai T, Kawarabayashi T, Matsubara E, Murakami T, Sasaki A, Tomidokoro Y, Ikarashi Y, Kuribara H, Ishiguro K, Hasegawa M, Yen SH, Chishti MA, Harigaya Y, ... ... St George-Hyslop P, et al. Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice. The American Journal of Pathology. 166: 521-31. PMID 15681835 DOI: 10.1016/S0002-9440(10)62274-2  0.291
2011 Yang DS, Stavrides P, Mohan PS, Kaushik S, Kumar A, Ohno M, Schmidt SD, Wesson DW, Bandyopadhyay U, Jiang Y, Pawlik M, Peterhoff CM, Yang AJ, Wilson DA, St George-Hyslop P, et al. Therapeutic effects of remediating autophagy failure in a mouse model of Alzheimer disease by enhancing lysosomal proteolysis. Autophagy. 7: 788-9. PMID 21464620 DOI: 10.4161/Auto.7.7.15596  0.29
2022 Brown GC, St George-Hyslop P. Does Soluble TREM2 Protect Against Alzheimer's Disease? Frontiers in Aging Neuroscience. 13: 834697. PMID 35153729 DOI: 10.3389/fnagi.2021.834697  0.289
2000 Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, St George-Hyslop PH, Sorbi S. Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis. Neuroscience Letters. 289: 157-60. PMID 10961653 DOI: 10.1016/S0304-3940(00)01273-8  0.288
2008 T Cuenco K, Lunetta KL, Baldwin CT, McKee AC, Guo J, Cupples LA, Green RC, St George-Hyslop PH, Chui H, DeCarli C, Farrer LA. Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease. Archives of Neurology. 65: 1640-8. PMID 19064752 DOI: 10.1001/Archneur.65.12.1640  0.288
2002 Rozmahel R, Mount HT, Chen F, Nguyen V, Huang J, Erdebil S, Liauw J, Yu G, Hasegawa H, Gu Y, Song YQ, Schmidt SD, Nixon RA, Mathews PM, Bergeron C, ... ... St George-Hyslop P, et al. Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype. Proceedings of the National Academy of Sciences of the United States of America. 99: 14452-7. PMID 12388777 DOI: 10.1073/Pnas.222413999  0.286
2004 Orlacchio A, Gaudiello F, Totaro A, Floris R, St George-Hyslop PH, Bernardi G, Kawarai T. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology. 62: 1875-8. PMID 15159500 DOI: 10.1212/01.Wnl.0000125324.32082.D9  0.284
2002 Shizuka-Ikeda M, Matsubara E, Ikeda M, Kanai M, Tomidokoro Y, Ikeda Y, Watanabe M, Kawarabayashi T, Harigaya Y, Okamoto K, Maruyama K, Castaño EM, St George-Hyslop P, Shoji M. Generation of amyloid beta protein from a presenilin-1 and betaAPP complex. Biochemical and Biophysical Research Communications. 292: 571-8. PMID 11906199 DOI: 10.1006/Bbrc.2002.6681  0.284
2006 Alves da Costa C, Sunyach C, Pardossi-Piquard R, Sévalle J, Vincent B, Boyer N, Kawarai T, Girardot N, St George-Hyslop P, Checler F. Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 6377-85. PMID 16763046 DOI: 10.1523/JNEUROSCI.0651-06.2006  0.284
2007 St George-Hyslop PH. Molecular genetics of Alzheimer's disease and other adult-onset dementias Genes and Common Diseases. 439-453. DOI: 10.1017/CBO9780511543555.030  0.283
2017 Brown GC, St George-Hyslop PH. Deciphering microglial diversity in Alzheimer's disease. Science (New York, N.Y.). 356: 1123-1124. PMID 28619900 DOI: 10.1126/science.aan7893  0.283
2000 St George-Hyslop PH. Molecular genetics of Alzheimer's disease. Biological Psychiatry. 47: 183-99. PMID 10682216  0.282
1998 Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ. Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology. 50: 1015-20. PMID 9566388 DOI: 10.1212/Wnl.50.4.1015  0.282
1999 St George-Hyslop PH. Molecular genetics of Alzheimer disease. Seminars in Neurology. 19: 371-83. PMID 10716660 DOI: 10.1055/s-2008-1040852  0.282
1999 Katayama T, Imaizumi K, Sato N, Miyoshi K, Kudo T, Hitomi J, Morihara T, Yoneda T, Gomi F, Mori Y, Nakano Y, Takeda J, Tsuda T, Itoyama Y, Murayama O, ... ... St George-Hyslop P, et al. Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response. Nature Cell Biology. 1: 479-85. PMID 10587643 DOI: 10.1038/70265  0.281
2013 Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, ... ... St George-Hyslop P, et al. SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. Plos One. 8: e58618. PMID 23565137 DOI: 10.1371/Journal.Pone.0058618  0.28
2000 St George-Hyslop PH. Genetic factors in the genesis of Alzheimer's disease. Annals of the New York Academy of Sciences. 924: 1-7. PMID 11193785  0.279
1994 St George-Hyslop P, McLachlan DC, Tsuda T, Rogaev E, Karlinsky H, Lippa CF, Pollen D, Tuda T. Alzheimer's disease and possible gene interaction. Science (New York, N.Y.). 263: 537. PMID 8290965 DOI: 10.1126/Science.8290965  0.279
2006 Rogaeva E, Kawarai T, St George-Hyslop P. Genetic complexity of Alzheimer's disease: Successes and challenges Alzheimer's Disease: a Century of Scientific and Clinical Research. 381-387.  0.278
2020 Audrain M, Haure-Mirande JV, Mleczko J, Wang M, Griffin JK, St George-Hyslop PH, Fraser P, Zhang B, Gandy S, Ehrlich ME. Reactive or transgenic increase in microglial TYROBP reveals a TREM2-independent TYROBP-APOE link in wild-type and Alzheimer's-related mice. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 33314529 DOI: 10.1002/alz.12256  0.278
1998 Hayashi Y, Fukatsu R, Tsuzuki K, Yoshida T, Sasaki N, Kimura K, Yamaguchi H, St George-Hyslop PH, Fujii N, Takahata N. Evidence for presenilin-1 involvement in amyloid angiopathy in the Alzheimer's disease-affected brain. Brain Research. 789: 307-14. PMID 9573389 DOI: 10.1016/S0006-8993(98)00027-4  0.277
2000 St George-Hyslop P. Alzheimer's disease. Neurobiology of Disease. 7: 546-8. PMID 11042074 DOI: 10.1006/nbdi.2000.0352  0.276
1990 Farrer LA, Myers RH, Cupples LA, St George-Hyslop PH, Bird TD, Rossor MN, Mullan MJ, Polinsky R, Nee L, Heston L. Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity. Neurology. 40: 395-403. PMID 2314579 DOI: 10.1097/00002093-199100510-00015  0.275
2005 Mastrangelo P, Mathews PM, Chishti MA, Schmidt SD, Gu Y, Yang J, Mazzella MJ, Coomaraswamy J, Horne P, Strome B, Pelly H, Levesque G, Ebeling C, Jiang Y, Nixon RA, ... ... St George-Hyslop P, et al. Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases. Proceedings of the National Academy of Sciences of the United States of America. 102: 8972-7. PMID 15951428 DOI: 10.1073/Pnas.0500940102  0.274
2008 Liu XQ, Paterson AD, He N, St George-Hyslop P, Rauta V, Gronhagen-Riska C, Laakso M, Thibaudin L, Berthoux F, Cattran D, Pei Y. IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy. Journal of the American Society of Nephrology : Jasn. 19: 1025-33. PMID 18256354 DOI: 10.1681/ASN.2007091013  0.273
2018 Kent BA, Heath CJ, Kim CH, Ahrens R, Fraser PE, St George-Hyslop P, Bussey TJ, Saksida LM. Longitudinal evaluation of Tau-P301L transgenic mice reveals no cognitive impairments at 17 months of age. Brain and Behavior. 8: e00896. PMID 29568692 DOI: 10.1002/Brb3.896  0.272
1998 Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St George-Hyslop P. A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds. Journal of the American Society of Nephrology : Jasn. 9: 1853-60. PMID 9773786  0.272
1997 Ishii K, Tamaoka A, Mizusawa H, Shoji S, Ohtake T, Fraser PE, Takahashi H, Tsuji S, Gearing M, Mizutani T, Yamada S, Kato M, St George-Hyslop PH, Mirra SS, Mori H. Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease. Brain Research. 748: 250-2. PMID 9067471 DOI: 10.1016/S0006-8993(96)01363-7  0.272
1994 St George-Hyslop P, Rogaeva E, Huterer J, Tsuda T, Santos J, Haines JL, Schlumpf K, Rogaev EI, Liang Y, McLachlan DR. Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14. American Journal of Human Genetics. 55: 120-5. PMID 8023841  0.27
2004 Verdile G, Groth D, Mathews PM, St George-Hyslop P, Fraser PE, Ramabhadran TV, Kwok JB, Schofield PR, Carter T, Gandy S, Martins RN. Baculoviruses expressing the human familial Alzheimer's disease presenilin 1 mutation lacking exon 9 increase levels of an amyloid beta-like protein in Sf9 cells. Molecular Psychiatry. 9: 594-602. PMID 14993906 DOI: 10.1038/Sj.Mp.4001458  0.267
2002 Orlacchio A, Kawarai T, Paciotti E, Stefani A, Orlacchio A, Sorbi S, St George-Hyslop PH, Bernardi G. Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease. Neuroscience Letters. 325: 13-6. PMID 12023056 DOI: 10.1016/S0304-3940(02)00221-5  0.267
2005 Nakaya Y, Yamane T, Shiraishi H, Wang HQ, Matsubara E, Sato T, Dolios G, Wang R, De Strooper B, Shoji M, Komano H, Yanagisawa K, Ihara Y, Fraser P, St George-Hyslop P, et al. Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides. The Journal of Biological Chemistry. 280: 19070-7. PMID 15764596 DOI: 10.1074/jbc.M501130200  0.263
2010 St George-Hyslop P, Schmitt-Ulms G. Alzheimer's disease: Selectively tuning gamma-secretase. Nature. 467: 36-7. PMID 20811445 DOI: 10.1038/467036A  0.262
2021 Vilalta A, Zhou Y, Sevalle J, Griffin JK, Satoh K, Allendorf DH, De S, Puigdellívol M, Bruzas A, Burguillos MA, Dodd RB, Chen F, Zhang Y, Flagmeier P, Needham LM, ... ... St George-Hyslop P, et al. Wild-type sTREM2 blocks Aβ aggregation and neurotoxicity, but the Alzheimer's R47H mutant increases Aβ aggregation. The Journal of Biological Chemistry. 100631. PMID 33823153 DOI: 10.1016/j.jbc.2021.100631  0.262
2004 Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nature Genetics. 36: 471-5. PMID 15107849 DOI: 10.1038/Ng1339  0.261
2021 Joshi P, Riffel F, Satoh K, Enomoto M, Qamar S, Scheiblich H, Villacampa N, Kumar S, Theil S, Parhizkar S, Haass C, Heneka MT, Fraser PE, St George-Hyslop P, Walter J. Differential interaction with TREM2 modulates microglial uptake of modified Aβ species. Glia. PMID 34427354 DOI: 10.1002/glia.24077  0.26
2000 Orlacchio A, Kawarai T, Massaro AM, St George-Hyslop PH, Sorbi S. Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees. Neuroscience Letters. 285: 83-6. PMID 10793232 DOI: 10.1016/S0304-3940(00)01032-6  0.259
1996 Trower MK, Orton SM, Purvis IJ, Sanseau P, Riley J, Christodoulou C, Burt D, See CG, Elgar G, Sherrington R, Rogaev EI, St George-Hyslop P, Brenner S, Dykes CW. Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus) Proceedings of the National Academy of Sciences of the United States of America. 93: 1366-9. PMID 8643637 DOI: 10.1073/PNAS.93.4.1366  0.259
2005 Tian X, Cecal R, McLaurin J, Manea M, Stefanescu R, Grau S, Harnasch M, Amir S, Ehrmann M, St George-Hyslop P, Kohlmann M, Przybylski M. Identification and structural characterisation of carboxy-terminal polypeptides and antibody epitopes of Alzheimer's amyloid precursor protein using high-resolution mass spectrometry. European Journal of Mass Spectrometry (Chichester, England). 11: 547-56. PMID 16322661 DOI: 10.1255/ejms.722  0.257
2005 Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A, Floris R, St George-Hyslop PH, Sorbi S, Bernardi G. Clinical and genetic study of a large SPG4 Italian family. Movement Disorders : Official Journal of the Movement Disorder Society. 20: 1055-9. PMID 15858810 DOI: 10.1002/Mds.20494  0.257
1998 Lippa CF, Nee LE, Mori H, St George-Hyslop P. Abeta-42 deposition precedes other changes in PS-1 Alzheimer's disease. Lancet. 352: 1117-8. PMID 9798591  0.257
1998 Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, St George-Hyslop P, Ghetti B, Nochlin D, Bird TD, Cairns NJ, Lee VM, et al. Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. The American Journal of Pathology. 153: 1365-70. PMID 9811326 DOI: 10.1016/S0002-9440(10)65722-7  0.256
2006 Li Y, Chu LW, Chen YQ, Cheung BM, Leung RY, Yik PY, Ng KM, Mak W, Jin DY, St George-Hyslop P, Song YQ. Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients. Dementia and Geriatric Cognitive Disorders. 22: 399-404. PMID 16960449 DOI: 10.1159/000095723  0.255
2001 Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology. 56: 1702-6. PMID 11425937 DOI: 10.1212/Wnl.56.12.1702  0.254
2000 Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y. Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations. Nature Genetics. 25: 143-4. PMID 10835625 DOI: 10.1038/75981  0.254
2005 Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bernardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Annals of Neurology. 58: 423-9. PMID 16130112 DOI: 10.1002/ana.20590  0.252
1999 Nishimura M, Yu G, St George-Hyslop PH. Biology of presenilins as causative molecules for Alzheimer disease. Clinical Genetics. 55: 219-25. PMID 10361981  0.252
1995 Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ. Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Research. Molecular Brain Research. 28: 319-37. PMID 7723630 DOI: 10.1016/0169-328X(94)00224-3  0.252
2003 Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, ... ... St George-Hyslop P, et al. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 14: 1164-74. PMID 12707387 DOI: 10.1097/01.Asn.0000061774.90975.25  0.25
2013 Jeon AH, Böhm C, Chen F, Huo H, Ruan X, Ren CH, Ho K, Qamar S, Mathews PM, Fraser PE, Mount HT, St George-Hyslop P, Schmitt-Ulms G. Interactome analyses of mature γ-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2. The Journal of Biological Chemistry. 288: 15352-66. PMID 23589300 DOI: 10.1074/Jbc.M112.441840  0.25
2012 Brautigam H, Steele JW, Westaway D, Fraser PE, St George-Hyslop PH, Gandy S, Hof PR, Dickstein DL. The isotropic fractionator provides evidence for differential loss of hippocampal neurons in two mouse models of Alzheimer's disease. Molecular Neurodegeneration. 7: 58. PMID 23173713 DOI: 10.1186/1750-1326-7-58  0.249
2017 McKeever PM, Kim T, Hesketh AR, MacNair L, Miletic D, Favrin G, Oliver SG, Zhang Z, St George-Hyslop P, Robertson J. Cholinergic neuron gene expression differences captured by translational profiling in a mouse model of Alzheimer's disease. Neurobiology of Aging. 57: 104-119. PMID 28628896 DOI: 10.1016/J.Neurobiolaging.2017.05.014  0.248
2013 Steele JW, Lachenmayer ML, Ju S, Stock A, Liken J, Kim SH, Delgado LM, Alfaro IE, Bernales S, Verdile G, Bharadwaj P, Gupta V, Barr R, Friss A, Dolios G, ... ... St George-Hyslop PH, et al. Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model. Molecular Psychiatry. 18: 889-97. PMID 22850627 DOI: 10.1038/Mp.2012.106  0.248
2018 Audrain M, Haure-Mirande JV, Wang M, Kim SH, Fanutza T, Chakrabarty P, Fraser P, St George-Hyslop PH, Golde TE, Blitzer RD, Schadt EE, Zhang B, Ehrlich ME, Gandy S. Integrative approach to sporadic Alzheimer's disease: deficiency of TYROBP in a tauopathy mouse model reduces C1q and normalizes clinical phenotype while increasing spread and state of phosphorylation of tau. Molecular Psychiatry. PMID 30283031 DOI: 10.1038/S41380-018-0258-3  0.248
2002 Sisodia SS, St George-Hyslop PH. gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in? Nature Reviews. Neuroscience. 3: 281-90. PMID 11967558 DOI: 10.1038/nrn785  0.247
2012 Lane RF, St George-Hyslop P, Hempstead BL, Small SA, Strittmatter SM, Gandy S. Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 14080-6. PMID 23055476 DOI: 10.1523/Jneurosci.3359-12.2012  0.246
2007 Checler F, Sunyach C, Pardossi-Piquard R, Sévalle J, Vincent B, Kawarai T, Girardot N, St George-Hyslop P, da Costa CA. The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53. Current Alzheimer Research. 4: 423-6. PMID 17908046 DOI: 10.2174/156720507781788945  0.246
2010 Harwood DG, Kalechstein A, Barker WW, Strauman S, St George-Hyslop P, Iglesias C, Loewenstein D, Duara R. The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease. International Journal of Geriatric Psychiatry. 25: 511-8. PMID 19750560 DOI: 10.1002/Gps.2372  0.245
1993 Stewart EA, White A, Tomfohrde J, Osborne-Lawrence S, Prestridge L, Bonne-Tamir B, Scheinberg IH, St George-Hyslop P, Giagheddu M, Kim JW. Polymorphic microsatellites and Wilson disease (WD). American Journal of Human Genetics. 53: 864-73. PMID 8213814  0.245
2014 Narayan P, Holmström KM, Kim DH, Whitcomb DJ, Wilson MR, St George-Hyslop P, Wood NW, Dobson CM, Cho K, Abramov AY, Klenerman D. Rare individual amyloid-β oligomers act on astrocytes to initiate neuronal damage. Biochemistry. 53: 2442-53. PMID 24717093 DOI: 10.1021/Bi401606F  0.243
2013 Frost JL, Le KX, Cynis H, Ekpo E, Kleinschmidt M, Palmour RM, Ervin FR, Snigdha S, Cotman CW, Saido TC, Vassar RJ, St George-Hyslop P, Ikezu T, Schilling S, Demuth HU, et al. Pyroglutamate-3 amyloid-β deposition in the brains of humans, non-human primates, canines, and Alzheimer disease-like transgenic mouse models. The American Journal of Pathology. 183: 369-81. PMID 23747948 DOI: 10.1016/J.Ajpath.2013.05.005  0.242
1999 Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 10: 1524-9. PMID 10405208  0.242
1999 St George-Hyslop PH, Westaway DA. Alzheimer's disease. Antibody clears senile plaques. Nature. 400: 116-7. PMID 10408433 DOI: 10.1038/22006  0.241
2024 Wagemann O, Liu H, Wang G, Shi X, Bittner T, Scelsi MA, Farlow MR, Clifford DB, Supnet-Bell C, Santacruz AM, Aschenbrenner AJ, Hassenstab JJ, Benzinger TLS, Gordon BA, Coalier KA, ... ... St George-Hyslop P, et al. Downstream Biomarker Effects of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimer Disease: The DIAN-TU-001 Randomized Clinical Trial. Jama Neurology. PMID 38683602 DOI: 10.1001/jamaneurol.2024.0991  0.237
2007 Brijbassi S, Amtul Z, Newbigging S, Westaway D, St George-Hyslop P, Rozmahel RF. Excess of nicastrin in brain results in heterozygosity having no effect on endogenous APP processing and amyloid peptide levels in vivo. Neurobiology of Disease. 25: 291-6. PMID 17071095 DOI: 10.1016/j.nbd.2006.09.013  0.237
1999 Tomidokoro Y, Ishiguro K, Igeta Y, Matsubara E, Kanai M, Shizuka M, Kawarabayashi T, Harigaya Y, Kawakatsu S, Ii K, Ikeda M, St George-Hyslop PH, Hirai S, Okamoto K, Shoji M. Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains. Biochemical and Biophysical Research Communications. 256: 512-8. PMID 10080929 DOI: 10.1006/Bbrc.1998.0119  0.235
2006 Murakami T, Paitel E, Kawarabayashi T, Ikeda M, Chishti MA, Janus C, Matsubara E, Sasaki A, Kawarai T, Phinney AL, Harigaya Y, Horne P, Egashira N, Mishima K, Hanna A, ... ... St George-Hyslop P, et al. Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation. The American Journal of Pathology. 169: 1365-75. PMID 17003492 DOI: 10.2353/Ajpath.2006.051250  0.234
2014 Steele JW, Brautigam H, Short JA, Sowa A, Shi M, Yadav A, Weaver CM, Westaway D, Fraser PE, St George-Hyslop PH, Gandy S, Hof PR, Dickstein DL. Early fear memory defects are associated with altered synaptic plasticity and molecular architecture in the TgCRND8 Alzheimer's disease mouse model. The Journal of Comparative Neurology. 522: 2319-35. PMID 24415002 DOI: 10.1002/Cne.23536  0.233
1994 Bowcock AM, Tomfohrde J, Weissenbach J, Bonne-Tamir B, St George-Hyslop P, Giagheddu M, Cavalli-Sforza LL, Farrer LA. Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites. American Journal of Human Genetics. 54: 79-87. PMID 8279473  0.233
2002 Chen F, Gu Y, Hasegawa H, Ruan X, Arawaka S, Fraser P, Westaway D, Mount H, St George-Hyslop P. Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch. The Journal of Biological Chemistry. 277: 36521-6. PMID 12119298 DOI: 10.1074/Jbc.M205093200  0.232
2008 St George-Hyslop PH, Morris JC. Will anti-amyloid therapies work for Alzheimer's disease? Lancet. 372: 180-2. PMID 18640437 DOI: 10.1016/S0140-6736(08)61047-8  0.231
1997 Cantillon M, Harwood D, Barker W, St George-Hyslop P, Tsuda T, Ekatarina R, Duara R. No association between apolipoprotein E genotype and late-onset depression in Alzheimer's disease. Biological Psychiatry. 41: 246-8. PMID 9018400  0.231
2015 Zhao Y, Tseng IC, Heyser CJ, Rockenstein E, Mante M, Adame A, Zheng Q, Huang T, Wang X, Arslan PE, Chakrabarty P, Wu C, Bu G, Mobley WC, Zhang YW, ... St George-Hyslop P, et al. Appoptosin-Mediated Caspase Cleavage of Tau Contributes to Progressive Supranuclear Palsy Pathogenesis. Neuron. 87: 963-75. PMID 26335643 DOI: 10.1016/J.Neuron.2015.08.020  0.231
2015 Hyman BT, Growdon JH, Albers MW, Buckner RL, Chhatwal J, Gomez-Isla MT, Haass C, Hudry E, Jack CR, Johnson KA, Khachaturian ZS, Kim DY, Martin JB, Nitsch RM, Rosen BR, ... ... St George-Hyslop P, et al. Massachusetts Alzheimer's Disease Research Center: Progress and challenges. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 26297855 DOI: 10.1016/J.Jalz.2015.06.1887  0.231
2019 Kawarabayashi T, Terakawa T, Takahashi A, Hasegawa H, Narita S, Sato K, Nakamura T, Seino Y, Hirohata M, Baba N, Ueda T, Harigaya Y, Kametani F, Maruyama N, Ishimoto M, ... St George-Hyslop P, et al. Oral Immunization with Soybean Storage Protein Containing Amyloid-β 4-10 Prevents Spatial Learning Decline. Journal of Alzheimer's Disease : Jad. PMID 31177217 DOI: 10.3233/Jad-190023  0.231
2005 Tuite PJ, Clark HB, Bergeron C, Bower M, St George-Hyslop P, Mateva V, Anderson J, Knopman DS. Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. Archives of Neurology. 62: 1453-7. PMID 16157754 DOI: 10.1001/Archneur.62.9.1453  0.23
2008 Tamboli IY, Prager K, Thal DR, Thelen KM, Dewachter I, Pietrzik CU, St George-Hyslop P, Sisodia SS, De Strooper B, Heneka MT, Filippov MA, Müller U, van Leuven F, Lütjohann D, Walter J. Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 28: 12097-106. PMID 19005074 DOI: 10.1523/Jneurosci.2635-08.2008  0.229
2010 Kim SH, Fraser PE, Westaway D, St George-Hyslop PH, Ehrlich ME, Gandy S. Group II metabotropic glutamate receptor stimulation triggers production and release of Alzheimer's amyloid(beta)42 from isolated intact nerve terminals. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 3870-5. PMID 20237257 DOI: 10.1523/Jneurosci.4717-09.2010  0.228
2006 Burgess BL, McIsaac SA, Naus KE, Chan JY, Tansley GH, Yang J, Miao F, Ross CJ, van Eck M, Hayden MR, van Nostrand W, St George-Hyslop P, Westaway D, Wellington CL. Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma. Neurobiology of Disease. 24: 114-27. PMID 16899370 DOI: 10.1016/J.Nbd.2006.06.007  0.228
2016 Allen GI, Amoroso N, Anghel C, Balagurusamy V, Bare CJ, Beaton D, Bellotti R, Bennett DA, Boehme K, Boutros PC, Caberlotto L, Caloian C, Campbell F, Neto EC, Chang YC, ... ... St George-Hyslop P, et al. Crowdsourced estimation of cognitive decline and resilience in Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 27079753 DOI: 10.1016/J.Jalz.2016.02.006  0.228
2000 St George-Hyslop PH. Piecing together Alzheimer's. Scientific American. 283: 76-83. PMID 11103462  0.227
2015 Whitcomb DJ, Hogg EL, Regan P, Piers T, Narayan P, Whitehead G, Winters BL, Kim DH, Kim E, St George-Hyslop P, Klenerman D, Collingridge GL, Jo J, Cho K. Intracellular oligomeric amyloid-beta rapidly regulates GluA1 subunit of AMPA receptor in the hippocampus. Scientific Reports. 5: 10934. PMID 26055072 DOI: 10.1038/Srep10934  0.224
2004 Gelinas DS, DaSilva K, Fenili D, St George-Hyslop P, McLaurin J. Immunotherapy for Alzheimer's disease. Proceedings of the National Academy of Sciences of the United States of America. 101: 14657-62. PMID 15297619 DOI: 10.1073/pnas.0404866101  0.224
2014 Michel CH, Kumar S, Pinotsi D, Tunnacliffe A, St George-Hyslop P, Mandelkow E, Mandelkow EM, Kaminski CF, Kaminski Schierle GS. Extracellular monomeric tau protein is sufficient to initiate the spread of tau protein pathology. The Journal of Biological Chemistry. 289: 956-67. PMID 24235150 DOI: 10.1074/Jbc.M113.515445  0.223
1999 Harwood DG, Barker WW, Loewenstein DA, Ownby RL, St George-Hyslop P, Mullan M, Duara R. A cross-ethnic analysis of risk factors for AD in white Hispanics and white non-Hispanics. Neurology. 52: 551-6. PMID 10025786 DOI: 10.1212/Wnl.52.3.551  0.22
2000 Lippa CF, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM. Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. Annals of Neurology. 48: 850-8. PMID 11117541 DOI: 10.1002/1531-8249(200012)48:6<850::Aid-Ana5>3.0.Co;2-V  0.22
2000 St George-Hyslop PH, McLaurin J, Fraser PE. Neuropathological, biochemical and genetic alterations in AD. Drug News & Perspectives. 13: 281-8. PMID 12937642  0.219
2000 Verdile G, Martins RN, Duthie M, Holmes E, St George-Hyslop PH, Fraser PE. Inhibiting amyloid precursor protein C-terminal cleavage promotes an interaction with presenilin 1. The Journal of Biological Chemistry. 275: 20794-8. PMID 10801777 DOI: 10.1074/Jbc.C000208200  0.219
2008 Dolcini V, Dunys J, Sevalle J, Chen F, Guillot-Sestier MV, St George-Hyslop P, Fraser PE, Checler F. TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin. Biochemical and Biophysical Research Communications. 371: 69-74. PMID 18405662 DOI: 10.1016/J.Bbrc.2008.03.151  0.219
2007 Paterson AD, Liu XQ, Wang K, Magistroni R, Song X, Kappel J, Klassen J, Cattran D, St George-Hyslop P, Pei Y. Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36. Journal of the American Society of Nephrology : Jasn. 18: 2408-15. PMID 17634434 DOI: 10.1681/ASN.2007020241  0.219
2009 Vincent B, Sunyach C, Orzechowski HD, St George-Hyslop P, Checler F. p53-Dependent transcriptional control of cellular prion by presenilins. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 29: 6752-60. PMID 19458243 DOI: 10.1523/JNEUROSCI.0789-09.2009  0.218
2000 Janus C, Pearson J, McLaurin J, Mathews PM, Jiang Y, Schmidt SD, Chishti MA, Horne P, Heslin D, French J, Mount HT, Nixon RA, Mercken M, Bergeron C, Fraser PE, ... St George-Hyslop P, et al. A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease. Nature. 408: 979-82. PMID 11140685 DOI: 10.1038/35050110  0.217
2003 Phinney AL, Drisaldi B, Schmidt SD, Lugowski S, Coronado V, Liang Y, Horne P, Yang J, Sekoulidis J, Coomaraswamy J, Chishti MA, Cox DW, Mathews PM, Nixon RA, Carlson GA, ... St George-Hyslop P, et al. In vivo reduction of amyloid-beta by a mutant copper transporter. Proceedings of the National Academy of Sciences of the United States of America. 100: 14193-8. PMID 14617772 DOI: 10.1073/Pnas.2332851100  0.215
2015 Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain : a Journal of Neurology. PMID 26556829 DOI: 10.1093/brain/awv320  0.212
2002 Fukami S, Watanabe K, Iwata N, Haraoka J, Lu B, Gerard NP, Gerard C, Fraser P, Westaway D, St George-Hyslop P, Saido TC. Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology. Neuroscience Research. 43: 39-56. PMID 12074840 DOI: 10.1016/S0168-0102(02)00015-9  0.211
2004 Carter TL, Verdile G, Groth D, Bogush A, Thomas S, Shen P, Fraser PE, Mathews P, Nixon RA, Ehrlich ME, Kwok JB, St George-Hyslop P, Schofield P, Li Y, Yang A, et al. Alzheimer amyloid precursor aspartyl proteinase activity in CHAPSO homogenates of Spodoptera frugiperda cells. Alzheimer Disease and Associated Disorders. 18: 261-3. PMID 15592142  0.209
2012 Murakami T, Yang SP, Xie L, Kawano T, Fu D, Mukai A, Bohm C, Chen F, Robertson J, Suzuki H, Tartaglia GG, Vendruscolo M, Kaminski Schierle GS, Chan FT, Moloney A, ... ... St George-Hyslop P, et al. ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism. Human Molecular Genetics. 21: 1-9. PMID 21949354 DOI: 10.1093/Hmg/Ddr417  0.207
2008 St George-Hyslop P. Genetics of dementia Continuum Lifelong Learning in Neurology. 14: 29-48. DOI: 10.1212/01.CON.0000275624.01820.a9  0.204
2017 Thornton P, Sevalle J, Deery MJ, Fraser G, Zhou Y, Ståhl S, Franssen EH, Dodd RB, Qamar S, Gomez Perez-Nievas B, Nicol LS, Eketjäll S, Revell J, Jones C, Billinton A, ... St George-Hyslop PH, et al. TREM2 shedding by cleavage at the H157-S158 bond is accelerated for the Alzheimer's disease-associated H157Y variant. Embo Molecular Medicine. PMID 28855301 DOI: 10.15252/emmm.201707673  0.204
2019 Fernandopulle M, Wang G, Nixon-Abell J, Qamar S, Balaji V, Morihara R, St George-Hyslop PH. Inherited and Sporadic Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degenerations arising from Pathological Condensates of Phase Separating Proteins. Human Molecular Genetics. PMID 31595953 DOI: 10.1093/hmg/ddz162  0.204
1999 Lévesque L, Annaert W, Craessaerts K, Mathews PM, Seeger M, Nixon RA, Van Leuven F, Gandy S, Westaway D, St George-Hyslop P, De Strooper B, Fraser PE. Developmental expression of wild-type and mutant presenilin-1 in hippocampal neurons from transgenic mice: evidence for novel species-specific properties of human presenilin-1. Molecular Medicine (Cambridge, Mass.). 5: 542-54. PMID 10501657 DOI: 10.1007/Bf03401981  0.2
1995 Ikeda M, Abe K, Aoki M, Sahara M, Watanabe M, Shoji M, St George-Hyslop PH, Hirai S, Itoyama Y. Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene. Neurology. 45: 2038-42. PMID 7501156  0.194
1999 Harwood DG, Barker WW, Ownby RL, St George-Hyslop P, Duara R. Apolipoprotein-E (APO-E) genotype and symptoms of psychosis in Alzheimer's disease. The American Journal of Geriatric Psychiatry : Official Journal of the American Association For Geriatric Psychiatry. 7: 119-23. PMID 10322238  0.193
2008 St George-Hyslop P, Haass C. Regulatory RNA goes awry in Alzheimer's disease. Nature Medicine. 14: 711-2. PMID 18607365 DOI: 10.1038/Nm0708-711  0.192
1999 Elia AJ, Parkes TL, Kirby K, St George-Hyslop P, Boulianne GL, Phillips JP, Hilliker AJ. Expression of human FALS SOD in motorneurons of Drosophila. Free Radical Biology & Medicine. 26: 1332-8. PMID 10381207 DOI: 10.1016/S0891-5849(98)00333-5  0.192
2002 Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y. Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 40: 16-20. PMID 12087556 DOI: 10.1053/ajkd.2002.33908  0.19
2008 Bai Y, Markham K, Chen F, Weerasekera R, Watts J, Horne P, Wakutani Y, Bagshaw R, Mathews PM, Fraser PE, Westaway D, St George-Hyslop P, Schmitt-Ulms G. The in vivo brain interactome of the amyloid precursor protein. Molecular & Cellular Proteomics : McP. 7: 15-34. PMID 17934213 DOI: 10.1074/Mcp.M700077-Mcp200  0.19
1996 Tierney MC, Szalai JP, Snow WG, Fisher RH, Nores A, Nadon G, Dunn E, St George-Hyslop PH. Prediction of probable Alzheimer's disease in memory-impaired patients: A prospective longitudinal study. Neurology. 46: 661-5. PMID 8618663 DOI: 10.1212/WNL.46.3.661  0.189
2005 Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St George-Hyslop P, Pei Y. Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. Journal of the American Society of Nephrology : Jasn. 16: 755-62. PMID 15677307 DOI: 10.1681/Asn.2004090758  0.189
2002 McLaurin J, Cecal R, Kierstead ME, Tian X, Phinney AL, Manea M, French JE, Lambermon MH, Darabie AA, Brown ME, Janus C, Chishti MA, Horne P, Westaway D, Fraser PE, ... ... St George-Hyslop P, et al. Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis. Nature Medicine. 8: 1263-9. PMID 12379850 DOI: 10.1038/Nm790  0.188
2012 McLean D, Cooke MJ, Wang Y, Fraser P, St George-Hyslop P, Shoichet MS. Targeting the amyloid-β antibody in the brain tissue of a mouse model of Alzheimer's disease. Journal of Controlled Release : Official Journal of the Controlled Release Society. 159: 302-8. PMID 22245684 DOI: 10.1016/J.Jconrel.2011.12.036  0.186
2000 Janus C, D'Amelio S, Amitay O, Chishti MA, Strome R, Fraser P, Carlson GA, Roder JC, St George-Hyslop P, Westaway D. Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes. Neurobiology of Aging. 21: 541-9. PMID 10924767 DOI: 10.1016/S0197-4580(00)00107-X  0.183
2006 Nguyen V, Hawkins C, Bergeron C, Supala A, Huang J, Westaway D, St George-Hyslop P, Rozmahel R. Loss of nicastrin elicits an apoptotic phenotype in mouse embryos. Brain Research. 1086: 76-84. PMID 16626651 DOI: 10.1016/J.Brainres.2006.02.122  0.183
2004 Cui JG, Fraser PE, St George-Hyslop P, Westaway D, Lukiw WJ. Potential roles for presenilin-1 in oxygen sensing and in glial-specific gene expression. Neuroreport. 15: 2025-8. PMID 15486475 DOI: 10.1097/00001756-200409150-00006  0.181
1994 Rogaev EI, Lukiw WJ, Lavrushina O, Rogaeva EA, St George-Hyslop PH. The upstream promoter of the beta-amyloid precursor protein gene (APP) shows differential patterns of methylation in human brain. Genomics. 22: 340-7. PMID 7528717 DOI: 10.1006/geno.1994.1393  0.179
2000 Grilli M, Diodato E, Lozza G, Brusa R, Casarini M, Uberti D, Rozmahel R, Westaway D, St George-Hyslop P, Memo M, Ongini E. Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically. Proceedings of the National Academy of Sciences of the United States of America. 97: 12822-7. PMID 11070093 DOI: 10.1073/Pnas.97.23.12822  0.178
2007 Pardossi-Piquard R, Chen F, Silva-Gagliardi NF, Szego M, McInnes R, McGlade CJ, St George-Hyslop P, Fraser PE. Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells. Biochemistry. 46: 13704-10. PMID 17988153 DOI: 10.1021/Bi701347W  0.177
2004 Janus C, Welzl H, Hanna A, Lovasic L, Lane N, St George-Hyslop P, Westaway D. Impaired conditioned taste aversion learning in APP transgenic mice. Neurobiology of Aging. 25: 1213-9. PMID 15312967 DOI: 10.1016/J.Neurobiolaging.2003.11.007  0.175
2002 Jo E, Fuller N, Rand RP, St George-Hyslop P, Fraser PE. Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein. Journal of Molecular Biology. 315: 799-807. PMID 11812148 DOI: 10.1006/Jmbi.2001.5269  0.175
1999 Schwarzman AL, Singh N, Tsiper M, Gregori L, Dranovsky A, Vitek MP, Glabe CG, St George-Hyslop PH, Goldgaber D. Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix. Proceedings of the National Academy of Sciences of the United States of America. 96: 7932-7. PMID 10393925 DOI: 10.1073/pnas.96.14.7932  0.174
2015 Murakami T, Qamar S, Lin JQ, Schierle GS, Rees E, Miyashita A, Costa AR, Dodd RB, Chan FT, Michel CH, Kronenberg-Versteeg D, Li Y, Yang SP, Wakutani Y, Meadows W, ... ... St George-Hyslop P, et al. ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function. Neuron. PMID 26526393 DOI: 10.1016/J.Neuron.2015.10.030  0.173
2010 Sanjo N, Katayama T, Hasegawa H, Jin H, Duthie M, Mount HT, Mizusawa H, St George-Hyslop P, Fraser PE. Localization and trafficking of endogenous anterior pharynx-defective 1, a component of Alzheimer's disease related gamma-secretase. Neuroscience Letters. 483: 53-6. PMID 20674680 DOI: 10.1016/J.Neulet.2010.07.061  0.169
2004 Gu Y, Sanjo N, Chen F, Hasegawa H, Petit A, Ruan X, Li W, Shier C, Kawarai T, Schmitt-Ulms G, Westaway D, St George-Hyslop P, Fraser PE. The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities. The Journal of Biological Chemistry. 279: 31329-36. PMID 15123598 DOI: 10.1074/Jbc.M401548200  0.168
2009 Pardossi-Piquard R, Böhm C, Chen F, Kanemoto S, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE. TMP21 transmembrane domain regulates gamma-secretase cleavage. The Journal of Biological Chemistry. 284: 28634-41. PMID 19710022 DOI: 10.1074/Jbc.M109.059345  0.164
2002 Petit A, St George-Hyslop P, Fraser P, Checler F. Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells. Biochemical and Biophysical Research Communications. 290: 1408-10. PMID 11820778 DOI: 10.1006/Bbrc.2002.6349  0.163
2008 Orlacchio A, Bruce IN, Rahman P, Kawarai T, Bernardi G, St George-Hyslop PH, Gladman DD, Urowitz MB. The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research. 14: CR233-237. PMID 18443545  0.163
2019 Carrillo-Jimenez A, Deniz Ö, Niklison-Chirou MV, Ruiz R, Bezerra-Salomão K, Stratoulias V, Amouroux R, Yip PK, Vilalta A, Cheray M, Scott-Egerton AM, Rivas E, Tayara K, García-Domínguez I, Garcia-Revilla J, ... ... St George-Hyslop P, et al. TET2 Regulates the Neuroinflammatory Response in Microglia. Cell Reports. 29: 697-713.e8. PMID 31618637 DOI: 10.1016/j.celrep.2019.09.013  0.163
1996 Uchihara T, el Hachimi HK, Duyckaerts C, Foncin JF, Fraser PE, Levesque L, St George-Hyslop PH, Hauw JJ. Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study. Acta Neuropathologica. 92: 325-30. PMID 8891063 DOI: 10.1007/S004010050526  0.162
2014 Ganzinger KA, Narayan P, Qamar SS, Weimann L, Ranasinghe RT, Aguzzi A, Dobson CM, McColl J, St George-Hyslop P, Klenerman D. Single-molecule imaging reveals that small amyloid-β1-42 oligomers interact with the cellular prion protein (PrP(C)). Chembiochem : a European Journal of Chemical Biology. 15: 2515-21. PMID 25294384 DOI: 10.1002/Cbic.201402377  0.157
1992 Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME. Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease. Archives of Neurology. 49: 1161-7. PMID 1444883 DOI: 10.1001/Archneur.1992.00530350075022  0.154
2009 Pardossi-Piquard R, Yang SP, Kanemoto S, Gu Y, Chen F, Böhm C, Sevalle J, Li T, Wong PC, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE. APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes. The Journal of Biological Chemistry. 284: 16298-307. PMID 19369254 DOI: 10.1074/Jbc.M109.000067  0.154
1994 Rogaev EI, Rogaeva EA, Ginter EK, KorovaÄ­tseva GI, Farrer L, ShlenskiÄ­ AB, Prytkov AN, St George-Hyslop P, Mordovtsev VN. [Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region]. Genetika. 30: 326-9. PMID 7514555  0.154
2018 St George-Hyslop P, Lin JQ, Miyashita A, Phillips EC, Qamar S, Randle SJ, Wang G. The Physiological and Pathological Biophysics of Phase Separation and Gelation of RNA Binding Proteins in Amyotrophic Lateral Sclerosis and Fronto-Temporal Lobar Degeneration. Brain Research. PMID 29723523 DOI: 10.1016/J.Brainres.2018.04.036  0.153
2014 Li Y, Bohm C, Dodd R, Chen F, Qamar S, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH. Structural biology of presenilin 1 complexes. Molecular Neurodegeneration. 9: 59. PMID 25523933 DOI: 10.1186/1750-1326-9-59  0.152
2004 Hasegawa H, Sanjo N, Chen F, Gu YJ, Shier C, Petit A, Kawarai T, Katayama T, Schmidt SD, Mathews PM, Schmitt-Ulms G, Fraser PE, St George-Hyslop P. Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes. The Journal of Biological Chemistry. 279: 46455-63. PMID 15322109 DOI: 10.1074/Jbc.M406289200  0.149
2023 Maestre G, Carrillo M, Kalaria R, Acosta D, Adams L, Adoukonou T, Akinwande K, Akinyemi J, Akinyemi R, Akpa O, Alladi S, Allegri R, Arizaga R, Arshad F, Arulogun O, ... ... St George-Hyslop P, et al. The Nairobi Declaration-Reducing the burden of dementia in low- and middle-income countries (LMICs): Declaration of the 2022 Symposium on Dementia and Brain Aging in LMICs. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 36905253 DOI: 10.1002/alz.13025  0.146
2013 Narayan P, Ganzinger KA, McColl J, Weimann L, Meehan S, Qamar S, Carver JA, Wilson MR, St George-Hyslop P, Dobson CM, Klenerman D. Single molecule characterization of the interactions between amyloid-β peptides and the membranes of hippocampal cells. Journal of the American Chemical Society. 135: 1491-8. PMID 23339742 DOI: 10.1021/Ja3103567  0.141
2006 Dunys J, Kawarai T, Wilk S, St George-Hyslop P, Alves da Costa C, Checler F. Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins. The Biochemical Journal. 394: 501-9. PMID 16302845 DOI: 10.1042/Bj20051197  0.14
2001 Fergani A, Yu G, St George-Hyslop P, Checler F. Wild-type and mutated nicastrins do not display aminopeptidase M- and B-like activities. Biochemical and Biophysical Research Communications. 289: 678-80. PMID 11726200 DOI: 10.1006/bbrc.2001.6030  0.14
2006 Uchihara T, Sanjo N, Nakamura A, Han K, Song SY, St George-Hyslop P, Fraser PE. Transient abundance of presenilin 1 fragments/nicastrin complex associated with synaptogenesis during development in rat cerebellum. Neurobiology of Aging. 27: 88-97. PMID 16298244 DOI: 10.1016/J.Neurobiolaging.2004.12.011  0.139
2000 Jo E, McLaurin J, Yip CM, St George-Hyslop P, Fraser PE. alpha-Synuclein membrane interactions and lipid specificity. The Journal of Biological Chemistry. 275: 34328-34. PMID 10915790 DOI: 10.1074/Jbc.M004345200  0.137
1992 St George-Hyslop PH, Ohno H, Gusella JF, McKeithan T. The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism. Nucleic Acids Research. 20: 927. PMID 1542596 DOI: 10.1093/NAR/20.4.927  0.12
2017 Johnson DS, Li YM, Pettersson M, St George-Hyslop PH. Structural and Chemical Biology of Presenilin Complexes. Cold Spring Harbor Perspectives in Medicine. PMID 28320827 DOI: 10.1101/Cshperspect.A024067  0.12
1994 Mortilla M, Vaula G, St George-Hyslop PH. Assessment of genetic polymorphisms in DNA from formalin fixed neurological tissues. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques. 21: 248-51. PMID 8000980  0.117
2010 Jin H, Sanjo N, Uchihara T, Watabe K, St George-Hyslop P, Fraser PE, Mizusawa H. Presenilin-1 holoprotein is an interacting partner of sarco endoplasmic reticulum calcium-ATPase and confers resistance to endoplasmic reticulum stress. Journal of Alzheimer's Disease : Jad. 20: 261-73. PMID 20164584 DOI: 10.1016/J.Jalz.2010.05.1327  0.116
2002 Rozmahel R, Huang J, Chen F, Liang Y, Nguyen V, Ikeda M, Levesque G, Yu G, Nishimura M, Mathews P, Schmidt SD, Mercken M, Bergeron C, Westaway D, St George-Hyslop P. Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP. Neurobiology of Aging. 23: 187-94. PMID 11804702 DOI: 10.1016/S0197-4580(01)00267-6  0.11
2009 Pardossi-Piquard R, Dunys J, Giaime E, Guillot-Sestier MV, St George-Hyslop P, Checler F, Alves da Costa C. p53-dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent gamma-secretase complex. Journal of Neurochemistry. 109: 225-37. PMID 19187441 DOI: 10.1111/j.1471-4159.2009.05952.x  0.109
2018 Qamar S, Wang G, Randle SJ, Ruggeri FS, Varela JA, Lin JQ, Phillips EC, Miyashita A, Williams D, Ströhl F, Meadows W, Ferry R, Dardov VJ, Tartaglia GG, Farrer LA, ... ... St George-Hyslop P, et al. FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions. Cell. 173: 720-734.e15. PMID 29677515 DOI: 10.1016/J.Cell.2018.03.056  0.108
2011 Knobbe CB, Revett TJ, Bai Y, Chow V, Jeon AH, Böhm C, Ehsani S, Kislinger T, Mount HT, Mak TW, St George-Hyslop P, Schmitt-Ulms G. Choice of biological source material supersedes oxidative stress in its influence on DJ-1 in vivo interactions with Hsp90. Journal of Proteome Research. 10: 4388-404. PMID 21819105 DOI: 10.1021/Pr200225C  0.108
2012 St George-Hyslop P, Fraser PE. Assembly of the presenilin γ-/ε-secretase complex. Journal of Neurochemistry. 120: 84-8. PMID 22122073 DOI: 10.1111/J.1471-4159.2011.07505.X  0.107
2014 Li Y, Lu SH, Tsai CJ, Bohm C, Qamar S, Dodd RB, Meadows W, Jeon A, McLeod A, Chen F, Arimon M, Berezovska O, Hyman BT, Tomita T, Iwatsubo T, ... ... St George-Hyslop PH, et al. Structural interactions between inhibitor and substrate docking sites give insight into mechanisms of human PS1 complexes. Structure (London, England : 1993). 22: 125-35. PMID 24210759 DOI: 10.1016/J.Str.2013.09.018  0.1
2007 Pardossi-Piquard R, Dunys J, Kawarai T, Sunyach C, Alves da Costa C, Vincent B, Sévalle J, Pimplikar S, St George-Hyslop P, Checler F. Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554. Neuron. 53: 483-6. PMID 17296550 DOI: 10.1016/j.neuron.2007.01.024  0.1
1998 Fraser PE, Levesque G, Yu G, Mills LR, Thirlwell J, Frantseva M, Gandy SE, Seeger M, Carlen PL, St George-Hyslop P. Presenilin 1 is actively degraded by the 26S proteasome. Neurobiology of Aging. 19: S19-21. PMID 9562462 DOI: 10.1016/S0197-4580(98)00029-3  0.096
2023 Shen Y, Chen A, Wang W, Shen Y, Ruggeri FS, Aime S, Wang Z, Qamar S, Espinosa JR, Garaizar A, St George-Hyslop P, Collepardo-Guevara R, Weitz DA, Vigolo D, Knowles TPJ. The liquid-to-solid transition of FUS is promoted by the condensate surface. Proceedings of the National Academy of Sciences of the United States of America. 120: e2301366120. PMID 37549257 DOI: 10.1073/pnas.2301366120  0.088
2007 Dunys J, Kawarai T, Giaime E, Wilk S, Herrant M, Auberger P, St George-Hyslop P, Alves da Costa C, Checler F. Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2. Neuro-Degenerative Diseases. 4: 156-63. PMID 17596710 DOI: 10.1159/000101840  0.088
1996 Tierney MC, Szalai JP, Snow WG, Fisher RH, Tsuda T, Chi H, McLachlan DR, St George-Hyslop PH. A prospective study of the clinical utility of ApoE genotype in the prediction of outcome in patients with memory impairment. Neurology. 46: 149-54. PMID 8559365  0.087
2000 Van Gassen G, De Jonghe C, Nishimura M, Yu G, Kuhn S, St George-Hyslop P, Van Broeckhoven C. Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction. Molecular Medicine (Cambridge, Mass.). 6: 570-80. PMID 10997338  0.087
2004 Alves da Costa C, Ayral E, Hernandez JF, St George-Hyslop P, Checler F. Presenilin-directed inhibitors of gamma-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells. Journal of Neurochemistry. 90: 800-6. PMID 15287885 DOI: 10.1111/j.1471-4159.2004.02512.x  0.082
2023 Nixon-Abell J, Ruggeri FS, Qamar S, Herling TW, Czekalska MA, Shen Y, Wang G, King C, Fernandopulle MS, Sneideris T, Watson JL, Pillai VVS, Meadows W, Henderson JW, Chambers JE, ... ... St George-Hyslop P, et al. ANXA11 biomolecular condensates facilitate protein-lipid phase coupling on lysosomal membranes. Biorxiv : the Preprint Server For Biology. PMID 36993242 DOI: 10.1101/2023.03.22.533832  0.07
2022 Volkmar N, Gawden-Bone CM, Williamson JC, Nixon-Abell J, West JA, St George-Hyslop PH, Kaser A, Lehner PJ. Regulation of membrane fluidity by RNF145-triggered degradation of the lipid hydrolase ADIPOR2. The Embo Journal. e110777. PMID 35993436 DOI: 10.15252/embj.2022110777  0.065
2019 Liao YC, Fernandopulle MS, Wang G, Choi H, Hao L, Drerup CM, Patel R, Qamar S, Nixon-Abell J, Shen Y, Meadows W, Vendruscolo M, Knowles TPJ, Nelson M, Czekalska MA, ... ... St George-Hyslop P, et al. RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether. Cell. 179: 147-164.e20. PMID 31539493 DOI: 10.1016/J.Cell.2019.08.050  0.063
1998 Ichise M, Ballinger JR, Tanaka F, Moscovitch M, St George-Hyslop PH, Raphael D, Freedman M. Age-related changes in D2 receptor binding with iodine-123-iodobenzofuran SPECT. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine. 39: 1511-8. PMID 9744333  0.063
1995 Cox DW, Gedde-Dahl T, Menon AG, Nygaard TG, Tomlinson IM, Peters J, St George-Hyslop PH, Walter MA, Edwards JH. Report of the second international workshop on human chromosome 14 mapping 1994. Cytogenetics and Cell Genetics. 69: 159-74. PMID 7698004 DOI: 10.1159/000133954  0.06
2023 Kim SC, Mitchell SJ, Qamar S, Whitcomb DJ, Ruepp MD, St George-Hyslop P, Cho K. Mimicking hypomethylation of FUS requires liquid-liquid phase separation to induce synaptic dysfunctions. Acta Neuropathologica Communications. 11: 199. PMID 38105257 DOI: 10.1186/s40478-023-01703-w  0.057
2005 Checler F, Frédéric C, Alves da Costa C, Cristine Ada C, Ayral E, Erwan A, Andrau D, David A, Dumanchin C, Cécile D, Farzan M, Michael F, Hernandez JF, Jean-François H, Martinez J, ... ... St George-Hyslop P, et al. JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway. Current Alzheimer Research. 2: 327-34. PMID 15974898  0.053
2023 Erkamp NA, Sneideris T, Ausserwöger H, Qian D, Qamar S, Nixon-Abell J, St George-Hyslop P, Schmit JD, Weitz DA, Knowles TPJ. Spatially non-uniform condensates emerge from dynamically arrested phase separation. Nature Communications. 14: 684. PMID 36755024 DOI: 10.1038/s41467-023-36059-1  0.047
2006 Pardossi-Piquard R, Dunys J, Yu G, St George-Hyslop P, Alves da Costa C, Checler F. Neprilysin activity and expression are controlled by nicastrin. Journal of Neurochemistry. 97: 1052-6. PMID 16606360 DOI: 10.1111/j.1471-4159.2006.03822.x  0.045
2024 Cullen PJ, Holstege H, Small SA, St George-Hyslop P. Understanding the endo-lysosomal network in neurodegeneration. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 379: 20220372. PMID 38368931 DOI: 10.1098/rstb.2022.0372  0.032
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