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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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198 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, 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
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
2013 Vardarajan B, Vergote D, Tissir F, Logue M, Yang J, Daude N, Ando K, Rogaeva E, Lee J, Cheng R, Brion JP, Ghani M, Shi B, Baldwin CT, Kar S, et al. Role of p73 in Alzheimer disease: lack of association in mouse models or in human cohorts. Molecular Neurodegeneration. 8: 10. PMID 23414597 DOI: 10.1186/1750-1326-8-10  0.76
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  0.76
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  0.76
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  0.36
2012 Lauritzen I, Pardossi-Piquard R, Bauer C, Brigham E, Abraham JD, Ranaldi S, Fraser P, St-George-Hyslop P, Le Thuc O, Espin V, Chami L, Dunys J, Checler F. The β-secretase-derived C-terminal fragment of βAPP, C99, but not Aβ, is a key contributor to early intraneuronal lesions in triple-transgenic mouse hippocampus. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 32: 16243-55a. PMID 23152608 DOI: 10.1523/JNEUROSCI.2775-12.2012  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
2012 Lu SH, Jeon AH, Schmitt-Ulms G, Qamar S, Dodd R, McDonald B, Li Y, Meadows W, Cox K, Bohm C, Chen F, Fraser P, George-Hyslop PS. Vigilin interacts with signal peptide peptidase. Proteome Science. 10: 33. PMID 22607704 DOI: 10.1186/1477-5956-10-33  0.36
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
2011 Seki N, Takahashi Y, Tomiyama H, Rogaeva E, Murayama S, Mizuno Y, Hattori N, Marras C, Lang AE, George-Hyslop PS, Goto J, Tsuji S. Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. Journal of Human Genetics. 56: 671-5. PMID 21796139 DOI: 10.1038/jhg.2011.79  0.76
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  0.36
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  0.76
2011 Wakasaya Y, Kawarabayashi T, Watanabe M, Yamamoto-Watanabe Y, Takamura A, Kurata T, Murakami T, Abe K, Yamada K, Wakabayashi K, Sasaki A, Westaway D, Hyslop PS, Matsubara E, Shoji M. Factors responsible for neurofibrillary tangles and neuronal cell losses in tauopathy. Journal of Neuroscience Research. 89: 576-84. PMID 21312224 DOI: 10.1002/jnr.22572  0.36
2011 Reitz C, Tokuhiro S, Clark LN, Conrad C, Vonsattel JP, Hazrati LN, Palotás A, Lantigua R, Medrano M, Z Jiménez-Velázquez I, Vardarajan B, Simkin I, Haines JL, Pericak-Vance MA, Farrer LA, et al. SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Annals of Neurology. 69: 47-64. PMID 21280075 DOI: 10.1002/ana.22308  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.32
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  0.76
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  0.76
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: 10.3233/JAD-2010-1360  0.32
2010 Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, et al. Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation. Neurology. 74: 798-806. PMID 20164095 DOI: 10.1212/WNL.0b013e3181d52785  0.76
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  0.76
2009 Steele JW, Kim SH, Cirrito JR, Verges DK, Restivo JL, Westaway D, Fraser P, Hyslop PS, Sano M, Bezprozvanny I, Ehrlich ME, Holtzman DM, Gandy S. Acute dosing of latrepirdine (Dimebon), a possible Alzheimer therapeutic, elevates extracellular amyloid-beta levels in vitro and in vivo. Molecular Neurodegeneration. 4: 51. PMID 20017949 DOI: 10.1186/1750-1326-4-51  0.36
2009 Pedrini S, Thomas C, Brautigam H, Schmeidler J, Ho L, Fraser P, Westaway D, Hyslop PS, Martins RN, Buxbaum JD, Pasinetti GM, Dickstein DL, Hof PR, Ehrlich ME, Gandy S. Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathology. Molecular Neurodegeneration. 4: 40. PMID 19845940 DOI: 10.1186/1750-1326-4-40  0.36
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  0.76
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  0.76
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  0.76
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  0.32
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.32
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  0.76
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  0.76
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  0.36
2008 St George-Hyslop P. Genetics of dementia Continuum Lifelong Learning in Neurology. 14: 29-48. DOI: 10.1212/01.CON.0000275624.01820.a9  0.76
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  0.76
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  0.76
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  0.32
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
2006 Samura E, Shoji M, Kawarabayashi T, Sasaki A, Matsubara E, Murakami T, Wuhua X, Tamura S, Ikeda M, Ishiguro K, Saido TC, Westaway D, St George Hyslop P, Harigaya Y, Abe K. Enhanced accumulation of tau in doubly transgenic mice expressing mutant betaAPP and presenilin-1. Brain Research. 1094: 192-9. PMID 16713590 DOI: 10.1016/j.brainres.2005.12.134  0.36
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  0.76
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  0.76
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  0.76
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  0.32
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  0.76
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  0.76
2006 Bernardi L, Maletta RG, Tomaino C, Smirne N, Di Natale M, Perri M, Longo T, Colao R, Curcio SA, Puccio G, Mirabelli M, Kawarai T, Rogaeva E, St George Hyslop PH, Passarino G, et al. The effects of APOE and tau gene variability on risk of frontotemporal dementia. Neurobiology of Aging. 27: 702-9. PMID 15904995 DOI: 10.1016/j.neurobiolaging.2005.03.008  0.76
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  0.76
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.  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
2005 Pardossi-Piquard R, Petit A, Kawarai T, Sunyach C, Alves da Costa C, Vincent B, Ring S, D'Adamio L, Shen J, Müller U, St George Hyslop P, Checler F. Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP. Neuron. 46: 541-54. PMID 15944124 DOI: 10.1016/j.neuron.2005.04.008  0.36
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  0.36
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  0.76
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  0.36
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  0.36
2005 Edwards-Lee T, Ringman JM, Chung J, Werner J, Morgan A, St George Hyslop P, Thompson P, Dutton R, Mlikotic A, Rogaeva E, Hardy J. An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. Neurology. 64: 377-9. PMID 15668448 DOI: 10.1212/01.WNL.0000149761.70566.3E  0.76
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  0.76
2004 Bruni AC, Kawarai T, Spillantini MG, St-George Hyslop PH, Leotta A, Lio S, Foncin JF, El Hachimi KH. [Familial fronto-temporal dementia with brain stem ubiquitin-positive neuronal inclusions]. Revue Neurologique. 160: 1171-9. PMID 15602363  0.36
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  0.76
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  0.76
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  0.36
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  0.76
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  0.36
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  0.36
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  0.36
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  0.76
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  0.76
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  0.76
2004 Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, et al. No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neuroscience Letters. 363: 99-101. PMID 15172093 DOI: 10.1016/j.neulet.2004.03.070  0.76
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  0.76
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  0.76
2004 Gandy S, DeMattos RB, Lemere CA, Heppner FL, Leverone J, Aguzzi A, Ershler WB, Dai J, Fraser P, St George Hyslop P, Holtzman DM, Walker LC, Keller ET. Alzheimer's Abeta vaccination of rhesus monkeys (Macaca mulatta). Mechanisms of Ageing and Development. 125: 149-51. PMID 15037022 DOI: 10.1016/j.mad.2003.12.002  0.36
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.32
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
2001 Nicolaou M, Song YQ, Sato CA, Orlacchio A, Kawarai T, Medeiros H, Liang Y, Sorbi S, Richard E, Rogaev EI, Moliaka Y, Bruni AC, Jorge R, Percy M, Duara R, et al. Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease. Neurogenetics. 3: 203-6. PMID 11714100 DOI: 10.1007/s100480100123  0.76
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  0.76
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  0.76
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  0.76
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  0.76
2000 St George-Hyslop PH, McLaurin J, Fraser PE. Neuropathological, biochemical and genetic alterations in AD. Drug News & Perspectives. 13: 281-8. PMID 12937642  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.36
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  0.76
1997 Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. Nature Medicine. 3: 67-72. PMID 8986743 DOI: 10.1038/nm0197-67  0.36
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  0.76
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  0.76
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