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Results: 1-25 | 26-37
Results: 1-25/37
Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity
Authors: Grimes, DA Bulman, D St George-Hyslop, P Lang, AE
Citation: Da. Grimes et al., Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity, MOVEMENT D, 16(1), 2001, pp. 106-110
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families
Authors: 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 Fafel, KC Boss, MA Seltzer, WK Stern, Y St George-Hyslop, P Tycko, B Mayeux, R
Citation: Es. Athan et al., A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families, J AM MED A, 286(18), 2001, pp. 2257-2263
Screening for PS1 mutations in a referral-based series of AD cases - 21 Novel mutations
Authors: 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
Citation: Ea. Rogaeva et al., Screening for PS1 mutations in a referral-based series of AD cases - 21 Novel mutations, NEUROLOGY, 57(4), 2001, pp. 621-625
Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations
Authors: Katayama, T Imaizumi, K Honda, A Yoneda, T Kudo, T Takeda, M Mori, K Rozmahel, R Fraser, P St George-Hyslop, P Tohyama, M
Citation: T. Katayama et al., Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations, J BIOL CHEM, 276(46), 2001, pp. 43446-43454
Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2
Authors: 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 Tohyama, M
Citation: N. Sato et al., Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2, J BIOL CHEM, 276(3), 2001, pp. 2108-2114
Early-onset amyloid deposition and cognitive deficits in transgenic mice expressing a double mutant form of amyloid precursor protein 695
Authors: Chishti, MA Yang, DS Janus, C Phinney, AL Horne, P Pearson, J Strome, R Zuker, N Loukides, J French, J Turner, S Lozza, G Grilli, M Kunicki, S Morissette, C Paquette, J Gervais, F Bergeron, C Fraser, PE Carlson, GA St George-Hyslop, P Westaway, D
Citation: Ma. Chishti et al., Early-onset amyloid deposition and cognitive deficits in transgenic mice expressing a double mutant form of amyloid precursor protein 695, J BIOL CHEM, 276(24), 2001, pp. 21562-21570
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease
Authors: Pei, Y Paterson, AD Wang, KR He, N Hefferton, D Watnick, T Germino, GG Parfrey, P Somlo, S St George-Hyslop, P
Citation: Y. Pei et al., Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease, AM J HU GEN, 68(2), 2001, pp. 355-363
Changes in cognitive characteristics of Tg(APP)CRND8 mice at early stages of immunization with beta-amyloid peptide
Authors: Janus, C Pearson, J Horne, P Renlund, R Parisien, K Chishti, A Heslin, D Bergeron, C Fraser, P St George-Hyslop, P Westaway, D
Citation: C. Janus et al., Changes in cognitive characteristics of Tg(APP)CRND8 mice at early stages of immunization with beta-amyloid peptide, ALZHEIMER'S DISEASE, 2001, pp. 697-704
Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations
Authors: Watnick, T He, N Wang, KR Liang, Y Parfrey, P Hefferton, D St George-Hyslop, P Germino, G Pei, Y
Citation: T. Watnick et al., Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations, NAT GENET, 25(2), 2000, pp. 143-144
Alzheimer's disease
Authors: St George-Hyslop, P
Citation: P. St George-hyslop, Alzheimer's disease, NEUROBIOL D, 7(5), 2000, pp. 546-548
Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta(42) secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans
Authors: Zhang, DM Levitan, D Yu, G Nishimura, M Chen, FS Tandon, A Kawarai, T Arawaka, S Supala, A Song, YQ Rogaeva, E Liang, Y Holmes, E Milman, P Sato, C Zhang, LL St George-Hyslop, P
Citation: Dm. Zhang et al., Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta(42) secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans, NEUROREPORT, 11(14), 2000, pp. 3227-3230
Presenilin structure, function and role in Alzheimer disease
Authors: Fraser, PE Yang, DS Yu, G Levesque, L Nishimura, M Arawaka, S Serpell, LC Rogaeva, E St George-Hyslop, P
Citation: Pe. Fraser et al., Presenilin structure, function and role in Alzheimer disease, BBA-MOL BAS, 1502(1), 2000, pp. 1-15
Special issue: Molecular basis of Alzheimer's disease - Preface
Authors: Fraser, PE St George-Hyslop, P
Citation: Pe. Fraser et P. St George-hyslop, Special issue: Molecular basis of Alzheimer's disease - Preface, BBA-MOL BAS, 1502(1), 2000, pp. VII-VIII
Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation
Authors: Jorge, R Mangone, C Castano, E Perandones, C Rogaeva, E St George-Hyslop, P El Hachimi, KH Foncin, JF Robinson, RG Bruni, AC
Citation: R. Jorge et al., Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation, J NEUROP CL, 12(3), 2000, pp. 359-363
Familial Alzheimer's disease: Site of mutation influences clinical phenotype
Authors: Lippa, CF Swearer, JM Kane, KJ Nochlin, D Bird, TD Ghetti, B Nee, LE St George-Hyslop, P Pollen, DA Drachman, DA
Citation: Cf. Lippa et al., Familial Alzheimer's disease: Site of mutation influences clinical phenotype, ANN NEUROL, 48(3), 2000, pp. 376-379
Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes
Authors: Janus, C D'Amelio, S Amitay, O Chishti, MA Strome, R Fraser, P Carlson, GA Roder, JC St George-Hyslop, P Westaway, D
Citation: C. Janus et al., Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes, NEUROBIOL A, 21(4), 2000, pp. 541-549
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions
Authors: Kertesz, A Kawarai, T Rogaeva, E St George-Hyslop, P Poorkaj, P Bird, TD Munoz, DG
Citation: A. Kertesz et al., Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions, NEUROLOGY, 54(4), 2000, pp. 818-827
A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease
Authors: Janus, C Pearson, J McLaurin, J Mathews, PM Jiang, Y Schmidt, SD Chishti, MA Horne, P Heslin, D French, J Mount, HTJ Nixon, RA Mercken, M Bergeron, C Fraser, PE St George-Hyslop, P Westaway, D
Citation: C. Janus et al., A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease, NATURE, 408(6815), 2000, pp. 979-982
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and beta APP processing
Authors: Yu, G Nishimura, M Arawaka, S Levitan, D Zhang, LL Tandon, A Song, YQ Rogaeva, E Chen, FS Kawaral, T Supala, A Levesque, L Yu, H Yang, DS Holmes, E Millman, P Liang, Y Zhang, DM Xu, DH Sato, C Rogaev, E Smith, M Janus, C Zhang, YN Aebersold, R Farrer, L Sorbi, S Bruni, A Fraser, P St George-Hyslop, P
Citation: G. Yu et al., Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and beta APP processing, NATURE, 407(6800), 2000, pp. 48-54
Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically
Authors: Grilli, M Lozza, G Brusa, R Casarini, M Uberti, D Rozmahel, R Westaway, D St George-Hyslop, P Memo, M Ongini, E
Citation: M. Grilli et al., Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically, P NAS US, 97(23), 2000, pp. 12822-12827
Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells
Authors: Chen, FS Yang, DS Petanceska, S Yang, A Tandon, A Yu, G Rozmahel, R Ghiso, J Nishimura, M Zhang, DM Kawara, T Levesque, G Mills, J Levesque, L Song, YQ Rogaeva, E Westaway, D Mount, H Gandy, S St George-Hyslop, P Fraser, PE
Citation: Fs. Chen et al., Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells, J BIOL CHEM, 275(47), 2000, pp. 36794-36802
alpha-synuclein membrane interactions and lipid specificity
Authors: Jo, EJ McLaurin, J Yip, CM St George-Hyslop, P Fraser, PE
Citation: Ej. Jo et al., alpha-synuclein membrane interactions and lipid specificity, J BIOL CHEM, 275(44), 2000, pp. 34328-34334
Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes
Authors: Yu, G Chen, FS Nishimura, M Steiner, H Tandon, A Kawarai, T Arawaka, S Supala, A Song, YQ Rogaeva, E Holmes, E Zhang, DM Milman, P Fraser, PE Haass, C St George-Hyslop, P
Citation: G. Yu et al., Mutation of conserved aspartates affects maturation of both aspartate mutant and endogenous presenilin 1 and presenilin 2 complexes, J BIOL CHEM, 275(35), 2000, pp. 27348-27353
Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease
Authors: 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
Citation: G. Devi et al., Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease, ARCH NEUROL, 57(10), 2000, pp. 1454-1457
Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes
Authors: Yu, G Chen, F Nishimura, M Steiner, H Tandon, A Kawarai, T Arawaka, S Supar, A Song, YQ Rogaeva, E Holmes, E Zhang, M Milman, P Fraser, P Haass, C St George-Hyslop, P
Citation: G. Yu et al., Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes, ACT NEUR SC, 102, 2000, pp. 6-11
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