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Published in Human molecular genetics (01.01.1998)
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A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
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Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population
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Current and future implications of basic and translational research on amyloid-β peptide production and removal pathways
Bohm, C., Chen, F., Sevalle, J., Qamar, S., Dodd, R., Li, Y., Schmitt-Ulms, G., Fraser, P.E., St George-Hyslop, P.H.
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Nicastrin binds to membrane-tethered Notch
St George-Hyslop, P. H, Chen, Fusheng, Yu, Gang, Arawaka, Shigeki, Nishimura, Masaki, Kawarai, Toshitaka, Yu, Haung, Tandon, Anurag, Supala, Agnes, Song, You Qiang, Rogaeva, Ekaterina, Milman, Paul, Sato, Christine, Yu, Cong, Janus, Christopher, Lee, Julie, Song, Lixin, Zhang, Lili, Fraser, Paul E
Published in Nature cell biology (01.08.2001)
Published in Nature cell biology (01.08.2001)
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Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model
Steele, J W, Lachenmayer, M L, Ju, S, Stock, A, Liken, J, Kim, S H, Delgado, L M, Alfaro, I E, Bernales, S, Verdile, G, Bharadwaj, P, Gupta, V, Barr, R, Friss, A, Dolios, G, Wang, R, Ringe, D, Fraser, P, Westaway, D, St George-Hyslop, P H, Szabo, P, Relkin, N R, Buxbaum, J D, Glabe, C G, Protter, A A, Martins, R N, Ehrlich, M E, Petsko, G A, Yue, Z, Gandy, S
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Published in Molecular psychiatry (01.08.2013)
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The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients
Ikeda, M, Sharma, V, Sumi, S M, Rogaeva, E A, Poorkaj, P, Sherrington, R, Nee, L, Tsuda, T, Oda, N, Watanabe, M, Aoki, M, Shoji, M, Abe, K, Itoyama, Y, Hirai, S, Schellenberg, G D, Bird, T D, St George-Hyslop, P H
Published in Annals of neurology (01.12.1996)
Published in Annals of neurology (01.12.1996)
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The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin
Yu, G, Chen, F, Levesque, G, Nishimura, M, Zhang, D M, Levesque, L, Rogaeva, E, Xu, D, Liang, Y, Duthie, M, St George-Hyslop, P H, Fraser, P E
Published in The Journal of biological chemistry (26.06.1998)
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Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion
Tuite, P J, Rogaeva, E A, St George-Hyslop, P H, Lang, A E
Published in Annals of neurology (01.10.1995)
Published in Annals of neurology (01.10.1995)
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Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder
St George-Hyslop, P. H, Haines, J. L, Farrer, L. A, Polinsky, R, Broeckhoven, C. Van, Goate, A, McLachlan, D. R. Crapper, Orr, H, Bruni, A. C, Sorbi, S, Rainero, I, Foncin, J.-F, Pollen, D, Cantu, J-M, Tupler, R, Voskresenskaya, N, Mayeux, R, Growdon, J, Fried, V. A, Myers, R. H, Nee, L, Backhovens, H, Martin, J-J, Rossor, M, Owen, M. J, Mullan, M, Percy, M. E, Karlinsky, H, Rich, S, Heston, L, Montesi, M, Mortilla, M, Nacmias, N, Gusella, J. F, Hardy, J. A
Published in Nature (London) (13.09.1990)
Published in Nature (London) (13.09.1990)
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PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier
Rogaeva, E, Bergeron, C, Sato, C, Moliaka, I, Kawarai, T, Toulina, A, Song, Y-Q, Kolesnikova, T, Orlacchio, A, Bernardi, G, St George-Hyslop, P H
Published in Neurology (14.10.2003)
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Clinical and genetic study of a large Italian family linked to SPG12 locus
Orlacchio, A, Kawarai, T, Rogaeva, E, Song, Y Q, Paterson, A D, Bernardi, G, St George-Hyslop, P H
Published in Neurology (12.11.2002)
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Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R, Rogaev, E. I, Liang, Y, Rogaeva, E. A, Levesque, G, Ikeda, M, Chi, H, Lin, C, Li, G, Holman, K, Tsuda, T, Mar, L, Foncin, J.-F, Bruni, A. C, Montesi, M. P, Sorbi, S, Rainero, I, Pinessi, L, Nee, L, Chumakov, I, Pollen, D, Brookes, A, Sanseau, P, Polinsky, R. J, Wasco, W, Da Silva, H. A. R, Haines, J. L, Pericak-Vance, M. A, Tanzi, R. E, Roses, A. D, Fraser, P. E, Rommens, J. M, St George-Hyslop, P. H
Published in Nature (London) (29.06.1995)
Published in Nature (London) (29.06.1995)
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The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease
Mattila, K M, Forsell, C, Pirttilä, T, Rinne, J O, Lehtimäki, T, Röyttä, M, Lilius, L, Eerola, A, St George-Hyslop, P H, Frey, H, Lannfelt, L
Published in Annals of neurology (01.12.1998)
Published in Annals of neurology (01.12.1998)
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Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia
Furukawa, Y, Lang, A E, Trugman, J M, Bird, T D, Hunter, A, Sadeh, M, Tagawa, T, St George-Hyslop, P H, Guttman, M, Morris, L W, Hornykiewicz, O, Shimadzu, M, Kish, S J
Published in Neurology (01.04.1998)
Published in Neurology (01.04.1998)
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Endogenous Presenilin 1 Redistributes to the Surface of Lamellipodia upon Adhesion of Jurkat Cells to a Collagen Matrix
Schwarzman, Alexander L., Singh, Nandita, Tsiper, Maria, Gregori, Luisa, Dranovsky, Alex, Vitek, Michael P., Glabe, Charles G., St. George-Hyslop, Peter H., Goldgaber, Dmitry
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.1999)
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A large calabrian kindred segregating frontotemporal dementia
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Published in Journal of neurology (01.07.2002)
Published in Journal of neurology (01.07.2002)
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