Human Molecular Genetics, 0964-6906

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  1. The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver

    Beer, N. L., Tribble, N. D., McCulloch, L. J., Roos, C., Johnson, P. R. V., Marju Orho-Melander & Gloyn, A. L., 2009, I : Human Molecular Genetics. 18, 21, s. 4081-4088

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  2. The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient {beta}-cell mass and exocytosis.

    Maria Björkqvist, Malin Fex, Erik Renström, Nils Wierup, Åsa Petersén, Gil, J., Karl Bacos, Popovic, N., Jia-Yi Li, Sundler, F., Brundin, P. & Hindrik Mulder, 2005, I : Human Molecular Genetics. 14, 5, s. 565-574

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  3. Progressive alterations in the hypothalamic-pituitary-adrenal axis in the R6/2 transgenic mouse model of Huntington's disease

    Maria Björkqvist, Åsa Petersén, Karl Bacos, Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, GP., Tabrizi, SJ., Brundin, P. & Hindrik Mulder, 2006, I : Human Molecular Genetics. 15, 10, s. 1713-1721

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  4. Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males

    Bode, F. J., Stephan, M., Suhling, H., Pabst, R., Straub, R. H., Raber, K. A., Bonin, M., Nguyen, H. P., Riess, O., Bauer, A., Sjöberg, C., Åsa Petersén & von Hoersten, S., 2008, I : Human Molecular Genetics. 17, 17, s. 2595-2609

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  5. Gene expression profile in multiple sclerosis patients and healthy controls: identifying pathways relevant to disease

    Bomprezzi, R., Markus Ringnér, Kim, S., Bittner, ML., Khan, J., Chen, YD., Elkahloun, A., Yu, AM., Bielekova, B., Meltzer, PS., Martin, R., McFarland, HF. & Trent, JM., 2003, I : Human Molecular Genetics. 12, 17, s. 2191-2199

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  6. Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers

    Yan Borné, Martin Söderholm, Barregard, L., Fagerberg, B., Margaretha Persson, Olle Melander, Thévenod, F., Bo Hedblad & Gunnar Engström, 2016 jun 22, I : Human Molecular Genetics. 25, 11, s. 2342-2348

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  7. A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

    Bossini-Castillo, L., Martin, J-E., Broen, J., Gorlova, O., Simeon, C. P., Beretta, L., Vonk, M. C., Luis Callejas, J., Castellvi, I., Carreira, P., Jose Garcia-Hernandez, F., Fernandez Castro, M., Coenen, M. J. H., Riemekasten, G., Witte, T., Hunzelmann, N., Kreuter, A., Distler, J. H. W., Koeleman, B. P., Voskuyl, A. E. & 20 andraSchuerwegh, A. J., Palm, O., Roger Hesselstrand, Nordin, A., Airo, P., Lunardi, C., Scorza, R., Shiels, P., van Laar, J. M., Herrick, A., Worthington, J., Denton, C., Tan, F. K., Arnett, F. C., Agarwal, S. K., Assassi, S., Fonseca, C., Mayes, M. D., Radstake, T. R. D. J. & Martin, J., 2012, I : Human Molecular Genetics. 21, 4, s. 926-933

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  8. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.

    Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., Hernandez, D. G., Nalls, M. A., Clark, L., Honig, L., Marder, K., van der Flier, W., Lemstra, A., Scheltens, P., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Ortega-Cubero, S., Pastor, P. & 22 andraFerman, T. J., Graff-Radford, N. R., Ross, O. A., Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Compta, Y., Revesz, T., Lees, A., Cairns, N., Halliday, G. M., Mann, D., Pickering-Brown, S., Dickson, D., Singleton, A. & Hardy, J., 2014, I : Human Molecular Genetics. 23, 23, s. 6139-6146

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  9. Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.

    Sebastian Braun, Kottwitz, D. & Nuber, U., 2012, I : Human Molecular Genetics. 21, 8, s. 1673-1680

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  10. A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neurons

    Braunstein, K. E., Eschbach, J., Rona-Voeroes, K., Soylu, R., Mikrouli, E., Larmet, Y., Rene, F., De Aguilar, J-L. G., Loeffler, J-P., Mueller, H-P., Bucher, S., Kaulisch, T., Niessen, H. G., Tillmanns, J., Fischer, K., Schwalenstoecker, B., Kassubek, J., Pichler, B., Stiller, D., Petersén, Å. & 2 andraLudolph, A. C. & Dupuis, L., 2010, I : Human Molecular Genetics. 19, 22, s. 4385-4398

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift