Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Rogaev, E. I, Sherrington, R, Rogaeva, E. A, Levesque, G, Ikeda, M, Liang, Y, Chi, H, Lin, C, Holman, K, Tsuda, T, Mar, L, Sorbi, S, Nacmias, B, Piacentini, S, Amaducci, L, Chumakov, I, Cohen, D, Lannfelt, L, Fraser, P. E, Rommens, J. M, George-Hyslop, P. H. St
Published in Nature (London) (31.08.1995)
Published in Nature (London) (31.08.1995)
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Journal Article
Alzheimer's Disease Associated with Mutations in Presenilin 2 is Rare and Variably Penetrant
Sherrington, R., Froelich, S., Sorbi, S., Campion, D., Chi, H., Rogaeva, E. A., Levesque, G., Rogaev, E. I., Lin, C., Liang, Y., Ikeda, M., Mar, L., Brice, A., Agid, Y., Percy, M.E., Clerget-Darpoux, F., Piacentini, S., Marcon, G., Nacmias, B., Amaducci, L., Frebourg, T., Lannfelt, L., Rommens, J. M., St George-Hyslop, P. H.
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
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Journal Article
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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Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
ROGAEV, E. I, SHERRINGTON, R, DE JONG, P. J, FRASER, P. E, ROMMENS, J. M, ST GEORGE-HYSLOP, P, WU, C, LEVESQUE, G, LIANG, Y, ROGAEVA, E. A, IKEDA, M, HOLMAN, K, LIN, C, LUKIW, W. J
Published in Genomics (San Diego, Calif.) (15.03.1997)
Published in Genomics (San Diego, Calif.) (15.03.1997)
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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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Journal Article
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
Igarashi, S., Takiyama, Y., Cancel, G., Rogaeva, E. A., Sasaki, H., Wakisaka, A., Zhou, Y.-X., Takano, H., Endo, K., Sanpei, K., Oyake, M., Tanaka, H., Stevanin, G., Abbas, N., Dürr, A., Rogaev, E. I., Sherrington, R., Tsuda, T., Ikeda, M., Cassa, E., Nishizawa, M., Benomar, A., Julien, J., Weissenbach, J., Wang, G.-X., Agid, Y., St. George-Hyslop, P. H., Brice, A., Tsuji, S.
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
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Journal Article
Homozygous inheritance of the Machado-Joseph disease gene
Lang, A E, Rogaeva, E A, Tsuda, T, Hutterer, J, St George-Hyslop, P
Published in Annals of neurology (01.09.1994)
Published in Annals of neurology (01.09.1994)
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Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease
NICOLAOU, M, SONG, Y.-Q, MOLIAKA, Y, BRUNI, A. C, JORGE, R, PERCY, M, DUARA, R, FARRER, L. A, ST GEORGE-HYSLOP, P, ROGAEVA, E. A, SATO, C. A, ORLACCHIO, A, KAWARAI, T, MEDEIROS, H, LIANG, Y, SORBI, S, RICHARD, E, ROGAEV, E. I
Published in Neurogenetics (01.10.2001)
Published in Neurogenetics (01.10.2001)
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Journal Article
Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?
Tsuda, T, Lopez, R, Rogaeva, E A, Freedman, M, Rogaev, E, Drachman, D, Pollen, D, Haines, J, Liang, Y, McLachlan, D R
Published in Annals of neurology (01.07.1994)
Published in Annals of neurology (01.07.1994)
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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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Journal Article
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, Haines, J L, Perkicak-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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Journal Article
Association between bleomycin hydrolase and Alzheimer's disease in caucasians
Farrer, L A, Abraham, C R, Haines, J L, Rogaeva, E A, Song, Y, McGraw, W T, Brindle, N, Premkumar, S, Scott, W K, Yamaoka, L H, Saunders, A M, Roses, A D, Auerbach, S A, Sorbi, S, Duara, R, Pericak-Vance, M A, St George-Hyslop, P H
Published in Annals of neurology (01.11.1998)
Published in Annals of neurology (01.11.1998)
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Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease
Rogaev, E I, Lukiw, W J, Vaula, G, Haines, J L, Rogaeva, E A, Tsuda, T, Alexandrova, N, Liang, Y, Mortilla, M, Amaducci, L, Bergamini, L, Bruni, A C, Foncin, J F, Macciardi, F, Montesi, M, Sorbi, S, Rainero, I, Pinessi, L, Polinsky, R J, Frommelt, P, Duara, R, Lopez, R, Pollen, D, Gusella, J F, Tanzi, R, MacLachlan, D, Crapper, D, St George-Hyslop, P H
Published in Neurology (01.11.1993)
Published in Neurology (01.11.1993)
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Failure to detect missense mutations in the S182 gene in a series of late-onset Alzheimer's disease cases
Tsuda, T., Chi, H., Liang, Y., Rogaeva, E.A., Sherrington, R., Levesque, G., Ikeda, M., Rogaev, E.I., Pollen, D., Freedman, M., Duara, R., St. George-Hyslop, P.H.
Published in Neuroscience letters (08.12.1995)
Published in Neuroscience letters (08.12.1995)
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Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Takiyama, Y, Igarashi, S, Rogaeva, E A, Endo, K, Rogaev, E I, Tanaka, H, Sherrington, R, Sanpei, K, Liang, Y, Saito, M
Published in Human molecular genetics (01.07.1995)
Published in Human molecular genetics (01.07.1995)
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Journal Article
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased A beta 42 secretion
De Jonghe, C, Cruts, M, Rogaeva, E A, Tysoe, C, Singleton, A, Vanderstichele, H, Meschino, W, Dermaut, B, Vanderhoeven, I, Backhovens, H, Vanmechelen, E, Morris, C M, Hardy, J, Van Broeckhoven, C
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
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An α-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease
Farrer, Lindsay A, Rogaeva, Ekaterina A, Premkumar, Smita, Grubber, Janet, Serneels, Lutgarde, Scott, William K, Kawarai, Toshitaka, Song, Youqiang, Hill, De'Lisa M, Abou-Donia, Suzanne M, Martin, Eden R, Vance, Jeffrey J, Yu, Gang, Orlacchio, Antonio, Pei, York, Nishimura, Masaki, Supala, Agres, Roberge, Brenda, Saunders, Ann M, Roses, Allen D, Schmechel, Donald, Crane-Gatherum, Alison, Sorbi, Sandro, Bruni, Amalia, Small, Gary W, Conneally, P. Michael, Haines, Jonathan L, Leuven, Fred Van, St. George-Hyslop, Peter H, Pericak-Vance, Margaret A
Published in Nature genetics (01.05.1999)
Published in Nature genetics (01.05.1999)
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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
Orlacchio, Antonio, Babalini, Carla, Borreca, Antonella, Patrono, Clarice, Massa, Roberto, Basaran, Sarenur, Munhoz, Renato P., Rogaeva, Ekaterina A., St George-Hyslop, Peter H., Bernardi, Giorgio, Kawarai, Toshitaka
Published in Brain (London, England : 1878) (01.02.2010)
Published in Brain (London, England : 1878) (01.02.2010)
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Interfamilial and intrafamilial phenotypic heterogeneity in familial Alzheimer's disease
Lopez-Alberola, R F, Barker, W W, Harwood, D G, Loewenstein, D A, George-Hyslop, P H, Tsuda, T, Rogaeva, E A, Duara, R
Published in Journal of geriatric psychiatry and neurology (01.01.1997)
Published in Journal of geriatric psychiatry and neurology (01.01.1997)
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