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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

179 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

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  0.559
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  0.477
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  0.466
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  0.546
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  0.615
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  0.554
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  0.537
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  0.438
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  0.577
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  0.518
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  0.555
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  0.571
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  0.483
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  0.582
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  0.507
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  0.548
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  0.472
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  0.549
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  0.596
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  0.567
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  0.551
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  0.461
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
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  0.571
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  0.588
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  0.586
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  0.526
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  0.54
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  0.563
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  0.542
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  0.44
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  0.571
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  0.554
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  0.582
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  0.593
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  0.506
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  0.535
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  0.461
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  0.494
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  0.569
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  0.528
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  0.545
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  0.561
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  0.487
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  0.452
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  0.547
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  0.507
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  0.544
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  0.47
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  0.591
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  0.528
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  0.581
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  0.552
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  0.465
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  0.391
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  0.509
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  0.555
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  0.504
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  0.447
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  0.566
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  0.537
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  0.503
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  0.565
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  0.541
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  0.598
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  0.494
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  0.503
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  0.562
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  0.576
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  0.583
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  0.534
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  0.526
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  0.542
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  0.56
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  0.53
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  0.542
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  0.495
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  0.56
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  0.488
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  0.5
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  0.518
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  0.561
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  0.62
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  0.507
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  0.532
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  0.616
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  0.572
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  0.449
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  0.519
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  0.374
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  0.441
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  0.681
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  0.581
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  0.606
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  0.572
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  0.603
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  0.586
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  0.677
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  0.594
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  0.565
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  0.575
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  0.572
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  0.519
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  0.577
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  0.557
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  0.493
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  0.409
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  0.554
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  0.554
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  0.546
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  0.466
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  0.533
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  0.568
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  0.503
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  0.6
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  0.602
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  0.438
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  0.525
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  0.621
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  0.521
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  0.524
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  0.5
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  0.539
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  0.522
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  0.435
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
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