Bibliotecas PUC-SP - Busca Integrada

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

od Rubinsztein, D C, Leggo, J
Izdano 1997

Polyalanine and polyserine frameshift products in Huntington's disease

od Davies, J E, Rubinsztein, D C
Izdano 2006

Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.

od Rubinsztein, D C, Amos, B, Cooper, G
Izdano 1999

Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.

od Coles, R, Leggo, J, Rubinsztein, D C
Izdano 1997

Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.

od Rankin, J, Wyttenbach, A, Rubinsztein, D C
Izdano 2000

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

od Reid, E, Dearlove, A M, Rhodes, M, Rubinsztein, D C
Izdano 1999

A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13

od Reid, E., Dearlove, A. M., Osborn, O., Rogers, M. T., Rubinsztein, D. C.
Izdano 2000

alpha-synuclein overexpression promotes aggregation of mutant huntingtin.

od Furlong, R A, Narain, Y, Rankin, J, Wyttenbach, A, Rubinsztein, D C
Izdano 2000

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

od Rubinsztein, J S, Rubinsztein, D C, McKenna, P J, Goodburn, S, Holland, A J
Izdano 1997

Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

od Futter, M, Diekmann, H, Schoenmakers, E, Sadiq, O, Chatterjee, K, Rubinsztein, D C
Izdano 2009

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.

od Tysoe, C, Robinson, D, Brayne, C, Dening, T, Paykel, E S, Huppert, F A, Rubinsztein, D C
Izdano 1996

Instability of normal (CTG)n alleles in the DM kinase gene.

od Dow, D J, Rubinsztein, D C, Yates, J R, Barton, D E, Ferguson-Smith, M A
Izdano 1997

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

od Leggo, J, Dalton, A, Morrison, P J, Dodge, A, Connarty, M, Kotze, M J, Rubinsztein, D C
Izdano 1997

Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.

od Kirk, R, Furlong, R A, Amos, W, Cooper, G, Rubinsztein, J S, Walsh, C, Paykel, E S, Rubinsztein, D C
Izdano 1999

Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects.

od Rubinsztein, D C, Cohen, J C, Berger, G M, van der Westhuyzen, D R, Coetzee, G A, Gevers, W
Izdano 1990

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

od Tysoe, C, Whittaker, J, Xuereb, J, Cairns, N J, Cruts, M, Van Broeckhoven, C, Wilcock, G, Rubinsztein, D C
Izdano 1998

Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.

od Rubinsztein, D C, Leggo, J, Goodburn, S, Crow, T J, Lofthouse, R, DeLisi, L E, Barton, D E, Ferguson-Smith, M A
Izdano 1994

Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather than by Language

od Rosser, Zoë H. , Zerjal, Tatiana , Hurles, Matthew E. , Adojaan, Maarja , Alavantic, Dragan , Amorim, António , Amos, William , Armenteros, Manuel , Arroyo, Eduardo , Barbujani, Guido , Beckman, Gunhild , Beckman, Lars , Bertranpetit, Jaume , Bosch, Elena , Bradley, Daniel G. , Brede, Gaute , Cooper, Gillian , Côrte-Real, Helena B. S. M. , de Knijff, Peter , Decorte, Ronny , Dubrova, Yuri E. , Evgrafov, Oleg , Gilissen, Anja , Glisic, Sanja , Gölge, Mukaddes , Hill, Emmeline W. , Jeziorowska, Anna , Kalaydjieva, Luba , Kayser, Manfred , Kivisild, Toomas , Kravchenko, Sergey A. , Krumina, Astrida , Kučinskas, Vaidutis , Lavinha, João , Livshits, Ludmila A. , Malaspina, Patrizia , Maria, Syrrou , McElreavey, Ken , Meitinger, Thomas A. , Mikelsaar, Aavo-Valdur , Mitchell, R. John , Nafa, Khedoudja , Nicholson, Jayne , Nørby, Søren , Pandya, Arpita , Parik, Jüri , Patsalis, Philippos C. , Pereira, Luísa , Peterlin, Borut , Pielberg, Gerli , Prata, Maria João , Previderé, Carlo , Roewer, Lutz , Rootsi, Siiri , Rubinsztein, D. C. , Saillard, Juliette , Santos, Fabrício R. , Stefanescu, Gheorghe , Sykes, Bryan C. , Tolun, Aslihan , Villems, Richard , Tyler-Smith, Chris , Jobling, Mark A. 
Izdano 2000

Interferon-gamma overcomes glucocorticoid suppression of cachectin/tumor necrosis factor biosynthesis by murine macrophages.

od Luedke, C E, Cerami, A, Okada, K, Caramelo, C, Tsai, P, Schrier, R W, Klinman, D M, Mayer, L, Eisenhardt, D, Demetri, G D, Ernst, T J, Pratt, E S, Zenzie, B W, Rheinwald, J G, Griffin, J D, Moessinger, A C, Harding, R, Adamson, T M, Singh, M, Kiu, G T, Freeman, G L, Colston, J T, Hornick, D B, Fick, R B, Gordon, L, Wharton, J, Moore, S E, Walsh, F S, Moscoso, J G, Penketh, R, Wallwork, J, Taylor, K M, Yacoub, M H, Polak, J M, Prabhakar, B S, Allaway, G P, Srinivasappa, J, Notkins, A L, Rubinsztein, D C, Cohen, J C, Berger, G M, van der Westhuyzen, D R, Coetzee, G A, Gevers, W, Naveh-Many, T, Silver, J, Pascual, V, Randen, I, Thompson, K, Sioud, M, Forre, O, Natvig, J, Capra, J D, Sterchi, E E, Mills, P R, Fransen, J A, Hauri, H P, Lentze, M J, Naim, H Y, Ginsel, L, Bond, J, Witte, J, Lloyd, M, Lorenzsonn, V, Korsmo, H, Olsen, W, Rigat, B, Hubert, C, Alhenc-Gelas, F, Cambien, F, Corvol, P, Soubrier, F, Yamagami, M, McFadden, P W, Koethe, S M, Ratanatharathorn, V, Lum, L G, Seikaly, M G, Arant, B S, Seney, F D, Strickler, J G, Movahed, L A, Gajl-Peczalska, K J, Horwitz, C A, Brunning, R D, Weiss, L M, Handagama, P, Rappolee, D A, Werb, Z, Levin, J, Bainton, D F, Cavard, C, Zider, A, Vernet, M, Bennoun, M, Saragosti, S, Grimber, G, Briand, P, Masferrer, J L, Zweifel, B S, Seibert, K, Needleman, P, Spitznagel, J K, Long, M W, Williams, J L, Mann, K G, Lantz, M, Gullberg, U, Nilsson, E, Olsson, I, Klein, S, Wolfe, R R, Piedimonte, G, McDonald, D M, Nadel, J A, Garey, J R, Harrison, L M, Franklin, K F, Metcalf, K M, Radisky, E S, Kushner, J P, Zurlo, F, Larson, K, Bogardus, C, Ravussin, E, Wessels, M R, Paoletti, L C, Kasper, D L, DiFabio, J L, Michon, F, Holme, K, Jennings, H J, Bysani, G K, Kennedy, T P, Ky, N, Rao, N V, Blaze, C A, Hoidal, J R, Segal, J H, Pollock, A S, Meggs, L G, Tillotson, J, Huang, H, Sonnenblick, E H, Capasso, J M, Anversa, P, Perkett, E A, Lyons, R M, Moses, H L, Brigham, K L, Meyrick, B, Kontusaari, S, Tromp, G, Kuivaniemi, H, Romanic, A M, Prockop, D J, Li, P, Lee, K Y, Chang, T M, Chey, W Y, Carrera, C J, Terai, C, Lotz, M, Curd, J G, Piro, L D, Beutler, E, Carson, D A, Kähäri, V M, Chen, Y Q, Su, M W, Ramirez, F, Uitto, J, Welgus, H G, Campbell, E J, Cury, J D, Eisen, A Z, Senior, R M, Wilhelm, S M, Goldberg, G I, Papa, V, Pezzino, V, Costantino, A, Belfiore, A, Giuffrida, D, Frittitta, L, Vannelli, G B, Brand, R, Goldfine, I D, Vigneri, R, Delfau, M H, Picat, C, de Rooij, F W, Hamer, K, Bogard, M, Wilson, J H, Deybach, J C, Nordmann, Y, Grandchamp, B, Kharbanda, S M, Sherman, M L, Kufe, D W, Neote, K, McInnes, B, Mahuran, D J, Gravel, R A, Robinette, J B, Conger, J D, Levitt, M D, Furne, J K, Strocchi, A, Anderson, B W, Levitt, D G, Takada, K, Amino, N, Tada, H, Miyai, K, Rankin, J A, Sylvester, I, Smith, S, Yoshimura, T, Leonard, E J, Kennedy, T P, Rao, N V, Noah, W, Michael, J R, Jafri, M H, Gurtner, G H, Hoidal, J R, Luder, A S, Parks, J K, Frerman, F, Parker, W D, Streeten, D H
Izdano 1990