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Results: 1-25 | 26-42
Results: 1-25/42
Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease
Authors: Wyttenbach, A Swartz, J Kita, H Thykjaer, T Carmichael, J Bradley, J Brown, R Maxwell, M Schapira, A Orntoft, TF Kato, K Rubinsztein, DC
Citation: A. Wyttenbach et al., Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease, HUM MOL GEN, 10(17), 2001, pp. 1829-1845
The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease
Authors: Murphy, T Yip, A Brayne, C Easton, D Evans, JG Xuereb, J Cairns, N Esiri, MM Rubinsztein, DC
Citation: T. Murphy et al., The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease, NEUROREPORT, 12(3), 2001, pp. 631-634
Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers
Authors: Berrios, GE Wagle, AC Markova, IS Wagle, SA Ho, LW Rubinsztein, DC Whittaker, J Ffrench-Constant, C Kershaw, A Rosser, A Bak, T Hodges, JR
Citation: Ge. Berrios et al., Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers, PSYCHIAT R, 102(3), 2001, pp. 217-225
Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes
Authors: Taylor, A Ezquerra, M Bagri, G Yip, A Goumidi, L Cottel, D Easton, D Evans, JG Xuereb, J Cairns, NJ Amouyel, P Chartier-Harlin, MC Brayne, C Rubinsztein, DC
Citation: A. Taylor et al., Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes, AM J MED G, 105(8), 2001, pp. 761-764
The molecular biology of Huntington's disease
Authors: Ho, LW Carmichael, J Swartz, J Wyttenbach, A Rankin, J Rubinsztein, DC
Citation: Lw. Ho et al., The molecular biology of Huntington's disease, PSYCHOL MED, 31(1), 2001, pp. 3-14
Wild type huntingtin reduces the cellular toxicity of mutant huntingtin inmammalian cell models of Huntington's disease
Authors: Ho, LW Brown, R Maxwell, M Wyttenbach, A Rubinsztein, DC
Citation: Lw. Ho et al., Wild type huntingtin reduces the cellular toxicity of mutant huntingtin inmammalian cell models of Huntington's disease, J MED GENET, 38(7), 2001, pp. 450-452
Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onsetAlzheimer's disease
Authors: Taylor, AE Yip, A Brayne, C Easton, D Evans, JG Xuereb, J Cairns, N Esiri, MM Rubinsztein, DC
Citation: Ae. Taylor et al., Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onsetAlzheimer's disease, J MED GENET, 38(4), 2001, pp. 232-233
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2loci presenting as familial cerebral aneurysm
Authors: McConnell, RS Rubinsztein, DC Fannin, TF McKinstry, CS Kelly, B Bailey, IC Hughes, AE
Citation: Rs. Mcconnell et al., Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2loci presenting as familial cerebral aneurysm, J MED GENET, 38(4), 2001, pp. 238-239
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate
Authors: Reid, E Escayg, A Dearlove, AM Lee, DD Meisler, MH Rubinsztein, DC
Citation: E. Reid et al., The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate, J MED GENET, 38(1), 2001, pp. 65-67
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language (vol 67, pg 1526, 2000)
Authors: Rosser,"Efgrafov, O Syrrou, M Meitinger, TA Rubinsztein, DC Stefanescu, G Tolun, A
Citation: O. Rosser,"efgrafov et al., Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language (vol 67, pg 1526, 2000), AM J HU GEN, 68(4), 2001, pp. 1075-1075
Apolipoprotein E genetic variation and Alzheimer's Disease - A meta-analysis
Authors: Rubinsztein, DC Easton, EF
Citation: Dc. Rubinsztein et Ef. Easton, Apolipoprotein E genetic variation and Alzheimer's Disease - A meta-analysis, DEMENT G C, 11(4), 2000, pp. 238-238
12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp I sites
Authors: Coles, R Birdsall, M Wyttenbach, A Rubinsztein, DC
Citation: R. Coles et al., 12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp I sites, NEUROREPORT, 11(14), 2000, pp. 3157-3161
Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death
Authors: Rankin, J Wyttenbach, A Rubinsztein, DC
Citation: J. Rankin et al., Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death, BIOCHEM J, 348, 2000, pp. 15-19
alpha-synuclein overexpression promotes aggregation of mutant huntingtin
Authors: Furlong, RA Narain, Y Rankin, J Wyttenbach, A Rubinsztein, DC
Citation: Ra. Furlong et al., alpha-synuclein overexpression promotes aggregation of mutant huntingtin, BIOCHEM J, 346, 2000, pp. 577-581
No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders
Authors: Furlong, RA Keramatipour, M Ho, LW Rubinsztein, JS Michael, A Walsh, C Paykel, ES Rubinsztein, DC
Citation: Ra. Furlong et al., No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders, AM J MED G, 96(6), 2000, pp. 733-735
Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder
Authors: Ho, LW Furlong, RA Rubinsztein, JS Walsh, C Paykel, ES Rubinsztein, DC
Citation: Lw. Ho et al., Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder, AM J MED G, 96(1), 2000, pp. 36-42
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease
Authors: Wyttenbach, A Carmichael, J Swartz, J Furlong, RA Narain, Y Rankin, J Rubinsztein, DC
Citation: A. Wyttenbach et al., Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease, P NAS US, 97(6), 2000, pp. 2898-2903
Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease
Authors: Carmichael, J Chatellier, J Woolfson, A Milstein, C Fersht, AR Rubinsztein, DC
Citation: J. Carmichael et al., Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease, P NAS US, 97(17), 2000, pp. 9701-9705
The ACE gene and Alzheimer's disease susceptibility
Authors: Narain, Y Yip, A Murphy, T Brayne, C Easton, D Evans, JG Xuereb, J Cairns, N Esiri, MM Furlong, RA Rubinsztein, DC
Citation: Y. Narain et al., The ACE gene and Alzheimer's disease susceptibility, J MED GENET, 37(9), 2000, pp. 695-697
The ACE I allele is associated with increased risk for ruptured intracranial aneurysms
Authors: Keramatipour, M McConnell, RS Kirkpatrick, P Tebbs, S Furlong, RA Rubinsztein, DC
Citation: M. Keramatipour et al., The ACE I allele is associated with increased risk for ruptured intracranial aneurysms, J MED GENET, 37(7), 2000, pp. 498-500
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
Authors: Lindsey, JC Lusher, ME McDermott, CJ White, KD Reid, E Rubinsztein, DC Bashir, R Hazan, J Shaw, PJ Bushby, KMD
Citation: Jc. Lindsey et al., Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis, J MED GENET, 37(10), 2000, pp. 759-765
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation
Authors: Singleton, AB Hall, R Ballard, CG Perry, RH Xuereb, JH Rubinsztein, DC Tysoe, C Matthews, P Cordell, B Kumar-Singh, S De Jonghe, C Cruts, M van Broeckhoven, C Morris, CM
Citation: Ab. Singleton et al., Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation, BRAIN, 123, 2000, pp. 2467-2474
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Authors: Rosser, ZH Zerjal, T Hurles, ME Adojaan, M Alavantic, D Amorim, A Amos, W Armenteros, M Arroyo, E Barbujani, G Beckman, G Beckman, L Bertranpetit, J Bosch, E Bradley, DG Brede, G Cooper, G Corte-Real, HBSM de Knijff, P Decorte, R Dubrova, YE Evgrafov, O Gilissen, A Glisic, S Golge, M Hill, EW Jeziorowska, A Kalaydjieva, L Kayser, M Kivisild, T Kravchenko, SA Krumina, A Kucinskas, V Lavinha, J Livshits, LA Malaspina, P Maria, S McElreavey, K Meitinger, TA Mikelsaar, AV Mitchell, RJ Nafa, K Nicholson, J Norby, S Pandya, A Parik, J Patsalis, PC Pereira, L Peterlin, B Pielberg, G Prata, ML Previdere, C Roewer, L Rootsi, S Rubinsztein, DC Saillard, J Santos, FR Stefanescu, G Sykes, BC Tolun, A Villems, R Tyler-Smith, C Jobling, MA
Citation: Zh. Rosser et al., Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language, AM J HU GEN, 67(6), 2000, pp. 1526-1543
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13
Authors: Reid, E Dearlove, AM Osborn, O Rogers, MT Rubinsztein, DC
Citation: E. Reid et al., A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13, AM J HU GEN, 66(2), 2000, pp. 728-732
Apolipoprotein E genetic variation and Alzheimer's disease - A meta-analysis
Authors: Rubinsztein, DC Easton, DF
Citation: Dc. Rubinsztein et Df. Easton, Apolipoprotein E genetic variation and Alzheimer's disease - A meta-analysis, DEMENT G C, 10(3), 1999, pp. 199-209
Risultati: 1-25 | 26-42