Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

Autor: Friedman, James S., Chang, Bo, Krauth, Daniel S., Lopez, Irma, Waseem, Naushin H., Hurd, Ron E., Feathers, Kecia L., Branham, Kari E., Shaw, Manessa, Thomas, George E., Brooks, Matthew J., Liu, Chunqiao, Bakeri, Hirva A., Campos, Maria M., Maubaret, Cecilia, Webster, Andrew R., Rodriguez, Ignacio R., Thompson, Debra A., Bhattacharya, Shomi S., Koenekoop, Robert K., Heckenlively, John R., Swaroop, Anand, Nathans, Jeremy

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2010 Aug . 107(35), 15523-15528.

Externí odkaz: https://www.jstor.org/stable/27862283

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy

Autor: Chakarova, Christina F. ^*, Papaioannou, Myrto G. ^*, Khanna, Hemant, Lopez, Irma, Waseem, Naushin, Shah, Amna, Theis, Torsten, Friedman, James, Maubaret, Cecilia, Bujakowska, Kinga, Veraitch, Brotati, El-Aziz, Mai M. Abd, Prescott, De Quincy, Parapuram, Sunil K., Bickmore, Wendy A., Munro, Peter M.G., Gal, Andreas, Hamel, Christian P., Marigo, Valeria, Ponting, Chris P., Wissinger, Bernd, Zrenner, Eberhart, Matter, Karl, Swaroop, Anand, Koenekoop, Robert K., Bhattacharya, Shomi S.

Publikováno v: In The American Journal of Human Genetics 2007 81(5):1098-1103

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Autor: Klebe, Stephan, Golmard, Jean-Louis, Charfi, Rim, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Freeman, Colin, Gao, Jianjun, Gardner, Michelle, Gibbs, Raphael, Goate, Alison, Gray, Emma, Guerreiro, Rita, Klein, Christine, Gústafsson, Omar, Harris, Clare, Hellenthal, Garrett, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Huang, Xuemei, Huber, Heiko, Hagenah, Johann, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Illig, Thomas, Jónsson, Pálmi V, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Gasser, Thomas, Lorenz, Delia, McNeill, Alisdair, Moorby, Catriona, Morris, Huw, Morrison, Karen E, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Pearson, Richard, Perlmutter, Joel S, Wurster, Isabel, Pétursson, Hjörvar, Pirinen, Matti, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Rizzu, Patrizia, Lesage, Suzanne, Ryten, Mina, Sawcer, Stephen, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Sidransky, Ellen, de Silva, Rohan, Smith, Colin, Spencer, Chris Ca, Stefánsson, Hreinn, Steinberg, Stacy, Stockton, Joanna D, Strange, Amy, Su, Zhan, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Deuschl, Günther, Traynor, Bryan J, Uitterlinden, G., Vandrovcova, Jana, Velseboer, Daan, Vidailhet, Marie, Vukcevic, Damjan, Walker, Robert, van de Warrenburg, Bart, Weale, Michael E, Wickremaratchi, Mirdhu, Durif, Franck, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Martinez, Maria, Donnelly, Peter, Hardy, John, Heutink, Peter, Brice, Alexis, Wood, Nicholas W, Singleton, Andrew B, Nalls, Michael A, Damier, Philippe, Durr, Alexandra, Amouyel, Philippe, Lambert, Jean-Charles, Tzourio, Christophe, Maubaret, Cécilia, Charbonnier-Beaupel, Fanny, Tahiri, Khadija, Saad, Mohamad, Corvol, Jean-Christophe, Group, French Parkinson's Disease Genetics Study, Consortium, International Parkinson's Disease Genomics, Agid, Y., Anheim, M., Bonnet, A-M, Borg, M., Brice, A., Broussolle, E., Corvol, J-C, Damier, Ph, Destée, A., Durr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Penet, C., Bras, Jose M, Pollak, P., Krack, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Simón-Sánchez, Javier, Schulte, Claudia, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Band, Gavin, Simon-Sanchez, Javier, Barker, Roger A, Bellinguez, Céline, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob Ma, Biffi, Alessandro, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Kuhlenbäumer, Gregor, Cooper, J Mark, Corvol, Jean Christophe, Counsell, Carl, Dartigues, Jean-François, Deloukas, Panos, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank

Publikováno v: Klebe, S, Golmard, J L, Nalls, M A, Saad, M, Singleton, A B, Bras, J M, Hardy, J, Simon Sanchez, J, Heutink, P, Kuhlenbäumer, G, Charfi, R, Klein, C, Hagenah, J, Gasser, T, Wurster, I, Lesage, S, Lorenz, D, Deuschl, G, Durif, F, Pollak, P, Damier, P, Tison, F, Durr, A, Amouyel, P, Lambert, J C, Tzourio, C, Maubaret, C, Charbonnier-Beaupel, F, Tahiri, K, Vidailhet, M, Martinez, M, Brice, A & Corvol, J C 2013, ' The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 84, no. 6, pp. 666-673 . https://doi.org/10.1136/jnnp-2012-304475
Journal of neurology, neurosurgery, and psychiatry 84(6), 666-673 (2013). doi:10.1136/jnnp-2012-304475
Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, 2013, 84 (6), pp.666-73. ⟨10.1136/jnnp-2012-304475⟩
Journal of Neurology, Neurosurgery, and Psychiatry, 84, 6, pp. 666-73
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 84, No 6 (2013) pp. 666-73
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2013, 84 (6), pp.666-73. ⟨10.1136/jnnp-2012-304475⟩
Journal of Neurology, Neurosurgery, and Psychiatry, 84, 666-73
Journal of Neurology, Neurosurgery and Psychiatry, 84(6), 666-673. BMJ Publishing Group
Journal of Neurology Neurosurgery and Psychiatry, 84(6), 666-673. BMJ Publishing Group
Journal of neurology, neurosurgery, and psychiatry, 84(6), 666-673. BMJ Publishing Group

Item does not contain fulltext The catechol-O-methyltranferase (COMT) is one of the main enzymes that metabolise dopamine in the brain. The Val158Met polymorphism in the COMT gene (rs4680) causes a trimodal distribution of high (Val/Val), intermediat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8129489329a06193721db82911dde8ef
https://doi.org/10.1136/jnnp-2012-304475

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