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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

OBJECTIVE: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profoun...

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Autors principals: Lee, J.-M., Ramos, E.M., Lee, J.-H., Gillis, T., Mysore, J.S., Hayden, M.R., Warby, S.C., Morrison, P., Nance, M., Ross, C.A., Margolis, R.L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R.J.A., McCusker, E., Novelletto, A., Frontali, M., Jones, R., Ashizawa, T., Frank, S., Saint-Hilaire, M.H., Hersch, S.M., Rosas, H.D., Lucente, D., Harrison, M.B., Zanko, A., Abramson, R.K., Marder, K., Sequeiros, J., Paulsen, J.S., Landwehrmeyer, G.B., Myers, R.H., MacDonald, M.E., Gusella, J.F., Durr, Alexandra, Rosenblatt, Adam, Frati, Luigi, Perlman, Susan, Conneally, Patrick M., Klimek, Mary Lou, Diggin, Melissa, Hadzi, Tiffany, Duckett, Ayana, Ahmed, Anwar, Allen, Paul, Ames, David, Anderson, Christine, Anderson, Karla, Anderson, Karen, Andrews, Thomasin, Ashburner, John, Axelson, Eric, Aylward, Elizabeth, Barker, Roger A., Barth, Katrin, Barton, Stacey, Baynes, Kathleen, Bea, Alexandra, Beall, Erik, Beg, Mirza Faisal, Beglinger, Leigh J., Biglan, Kevin, Bjork, Kristine, Blanchard, Steve, Bockholt, Jeremy, Bommu, Sudharshan Reddy, Brossman, Bradley, Burrows, Maggie, Calhoun, Vince, Carlozzi, Noelle, Chesire, Amy, Chiu, Edmond, Chua, Phyllis, Connell, R.J., Connor, Carmela, Corey-Bloom, Jody, Craufurd, David, Cross, Stephen, Cysique, Lucette, Santos, Rachelle Dar, Davis, Jennifer, Decolongon, Joji, DiPietro, Anna, Doucette, Nicholas, Downing, Nancy, Dudler, Ann, Dunn, Steve, Ecker, Daniel, Epping, Eric A., Erickson, Diane, Erwin, Cheryl, Evans, Ken, Factor, Stewart A., Farias, Sarah, Fatas, Marta, Fiedorowicz, Jess, Fullam, Ruth, Furtado, Sarah, Garde, Monica Bascunana, Gehl, Carissa, Geschwind, Michael D., Goh, Anita, Gooblar, Jon, Goodman, Anna, Griffith, Jane, Groves, Mark, Guttman, Mark, Hamilton, Joanne, Harrington, Deborah, Harris, Greg, Heaton, Robert K., Helmer, Karl, Henneberry, Machelle, Hershey, Tamara, Herwig, Kelly, Howard, Elizabeth, Hunter, Christine, Jankovic, Joseph, Johnson, Hans, Johnson, Arik, Jones, Kathy, Juhl, Andrew, Kim, Eun Young, Kimble, Mycah, King, Pamela, Klöppel, Stefan, Koenig, Katherine, Komiti, Angela, Kumar, Rajeev, Langbehn, Douglas, Leavitt, Blair, Leserman, Anne, Lim, Kelvin, Lipe, Hillary, Lowe, Mark, Magnotta, Vincent A., Mallonee, William M., Mans, Nicole, Marietta, Jacquie, Marshall, Frederick, Martin, Wayne, Mason, Sarah, Matheson, Kirsty, Matson, Wayne, Mazzoni, Pietro, McDowell, William, Miedzybrodzka, Zosia, Miller, Michael, Mills, James, Miracle, Dawn, Montross, Kelsey, Moore, David, Mori, Sasumu, Moser, David J., Moskowitz, Carol, Newman, Emily, Nopoulos, Peg, Novak, Marianne, O'Rourke, Justin, Oakes, David, Ondo, William, Orth, Michael, Panegyres, Peter, Pease, Karen, Perlmutter, Joel, Peterson, Asa, Phillips, Michael, Pierson, Ron, Potkin, Steve, Preston, Joy, Quaid, Kimberly, Radtke, Dawn, Rae, Daniela, Rao, Stephen, Raymond, Lynn, Reading, Sarah, Ready, Rebecca, Reece, Christine, Reilmann, Ralf, Reynolds, Norm, Richardson, Kylie, Rickards, Hugh, Ro, Eunyoe, Robinson, Robert, Rodnitzky, Robert, Rogers, Ben, Rosser, Elisabeth, Rosser, Anne, Price, Kathy, Ryan, Pat, Salmon, David, Samii, Ali, Schumacher, Jamy, Schumacher, Jessica, Sendon, Jose Luis Lópenz, Shear, Paula, Sheinberg, Alanna, Shpritz, Barnett, Siedlecki, Karen, Simpson, Sheila A., Singer, Adam, Smith, Jim, Smith, Megan, Smith, Glenn, Snyder, Pete, Song, Allen, Sran, Satwinder, Stephan, Klaas, Stober, Janice, Sü?muth, Sigurd, Suter, Greg, Tabrizi, Sarah, Tempkin, Terry, Testa, Claudia, Thompson, Sean, Thomsen, Teri, Thumma, Kelli, Toga, Arthur, Trautmann, Sonja, Tremont, Geoff, Turner, Jessica, Uc, Ergun, Vaccarino, Anthony, van Duijn, Eric, Van Walsem, Marleen, Vik, Stacie, Vonsattel, Jean Paul, Vuletich, Elizabeth, Warner, Tom, Wasserman, Paula, Wassink, Thomas, Waterman, Elijah, Weaver, Kurt, Weir, David, Welsh, Claire, Werling-Witkoske, Chris, Wesson, Melissa, Westervelt, Holly, Weydt, Patrick, Wheelock, Vicki, Williams, Kent, Williams, Janet, Wodarski, Mary, Wojcieszek, Joanne, Wood, Jessica, Wood-Siverio, Cathy, Wu, Shuhua, Yastrubetskaya, Olga, de Yebenes, Justo Garcia, Zhao, Yong Qiang, Zimbelman, Janice, Zschiegner, Roland, Aaserud, Olaf, Abbruzzese, Giovanni, Andrich, Jurgin, Antczak, Jakub, Arran, Natalie, Artiga, Maria J. Saiz, Bachoud-Lévi, Anne-Catherine, Banaszkiewicz, Krysztof, di Poggio, Monica Bandettini, Bandmann, Oliver, Barbera, Miguel A., Barrero, Francisco, Bas, Jordi, Beister, Antoine, Bentivoglio, Anna Rita, Bertini, Elisabetta, Biunno, Ida, Bjørgo, Kathrine, Bjørnevoll, Inga, Bohlen, Stefan, Bonelli, Raphael M., Bos, Reineke, Bourne, Colin, Bradbury, Alyson, Brockie, Peter, Brown, Felicity, Bruno, Stefania, Bryl, Anna, Buck, Andrea, Burg, Sabrina, Burgunder, Jean-Marc, Burns, Peter, Burrows, Liz, Busquets, Nuria, Busse, Monica, Calopa, Matilde, Carruesco, Gemma T., Casado, Ana Gonzalez, Catena, Judit López, Chu, Carol, Ciesielska, Anna, Clapton, Jackie, Clayton, Carole, Clenaghan, Catherine, Coelho, Miguel, Connemann, Julia, Crooks, Jenny, Cubillo, Patricia Trigo, Cubo, Esther, Curtis, Adrienne, De Michele, Giuseppe, De Nicola, A., de Souza, Jenny, de Weert, A. Marit, de Yébenes, Justo Garcia, Dekker, M., Descals, A. Martínez, Di Maio, Luigi, Di Pietro, Anna, Dipple, Heather, Dose, Matthias, Dumas, Eve M., Dunnett, Stephen, Elifani, F., Ellison-Rose, Lynda, Elorza, Marina D., Eschenbach, Carolin, Evans, Carole, Fairtlough, Helen, Fannemel, Madelein, Fasano, Alfonso, Fenollar, Maria, Ferrandes, Giovanna, Ferreira, Jaoquim J., Fillingham, Kay, Finisterra, Ana Maria, Fisher, K., Fletcher, Amy, Foster, Jillian, Foustanos, Isabella, Frech, Fernando A., Fullam, Robert, Fullham, Ruth, Gago, Miguel, García, RocioGarcía-Ramos, García, Socorro S., Garrett, Carolina, Gellera, Cinzia, Gill, Paul, Ginestroni, Andrea, Golding, Charlotte, Gørvell, Per, Grant, Janet, Griguoli, A., Gross, Diana, Guedes, Leonor, BascuñanaGuerra, Monica, Guerra, Maria Rosalia, Guerrero, Rosa, Guia, Dolores B., Guidubaldi, Arianna, Hallam, Caroline, Hamer, Stephanie, Hammer, Kathrin, Handley, Olivia J., Harding, Alison, Hasholt, Lis, Hedge, Reikha, Heiberg, Arvid, Heinicke, Walburgis, Held, Christine, Hernanz, Laura Casas, Herranhof, Briggitte, Herrera, Carmen Durán, Hidding, Ute, Hiivola, Heli, Hill, Susan, Hjermind, Lena. E., Hobson, Emma, Hoffmann, Rainer, Holl, Anna Hödl, Howard, Liz, Hunt, Sarah, Huson, Susan, Ialongo, Tamara, Idiago, Jesus Miguel R., Illmann, Torsten, Jachinska, Katarzyna, Jacopini, Gioia, Jakobsen, Oda, Jamieson, Stuart, Jamrozik, Zygmunt, Janik, Piotr, Johns, Nicola, Jones, Lesley, Jones, Una, Jurgens, Caroline K., Kaelin, Alain, Kalbarczyk, Anna, Kershaw, Ann, Khalil, Hanan, Kieni, Janina, Klimberg, Aneta, Koivisto, Susana P., Koppers, Kerstin, Kosinski, Christoph Michael, Krawczyk, Malgorzata, Kremer, Berry, Krysa, Wioletta, Kwiecinski, Hubert, Lahiri, Nayana, Lambeck, Johann, Lange, Herwig, Laver, Fiona, Leenders, K.L., Levey, Jamie, Leythaeuser, Gabriele, Lezius, Franziska, Llesoy, Joan Roig, Löhle, Matthias, López, Cristobal Diez-Aja, Lorenza, Fortuna, Loria, Giovanna, Magnet, Markus, Mandich, Paola, Marchese, Roberta, Marcinkowski, Jerzy, Mariotti, Caterina, Mariscal, Natividad, Markova, Ivana, Marquard, Ralf, Martikainen, Kirsti, Martínez, Isabel Haro, Martínez-Descals, Asuncion, Martino, T., McKenzie, Sue, Mechi, Claudia, Mendes, Tiago, Mestre, Tiago, Middleton, Julia, Milkereit, Eva, Miller, Joanne, Miller, Julie, Minster, Sara, Möller, Jens Carsten, Monza, Daniela, Morales, Blas, Moreau, Laura V., Moreno, Jose L. López-Sendón, Münchau, Alexander, Murch, Ann, Nielsen, Jørgen E., Niess, Anke, Nørremølle, Anne, O'Donovan, Kristy, Otti, Daniela, Owen, Michael, Padieu, Helene, Paganini, Marco, Painold, Annamaria, Päivärinta, Markku, Partington-Jones, Lucy, Paterski, Laurent, Paterson, Nicole, Patino, Dawn, Patton, Michael, Peinemann, Alexander, Peppa, Nadia, Perea, Maria Fuensanta Noguera, Peterson, Maria, Piacentini, Silvia, Piano, Carla, Càrdenas, Regina Pons i, Prehn, Christian, Price, Kathleen, Probst, Daniela, Quarrell, Oliver, Quiroga, Purificacion Pin, Raab, Tina, Rakowicz, Maryla, Raman, Ashok, Raymond, Lucy, Reinante, Gema, Reisinger, Karin, Retterstol, Lars, Ribaï, Pascale, Riballo, Antonio V., Ribas, Guillermo G., Richter, Sven, Rinaldi, Carlo, Rissling, Ida, Ritchie, Stuart, Rivera, Susana Vázquez, Robert, Misericordia Floriach, Roca, Elvira, Romano, Silvia, Romoli, Anna Maria, Roos, Raymond A.C., Røren, Niini, Rose, Sarah, Rossi, Fabiana, Rothery, Jean, Rudzinska, Monika, Ruíz, Pedro J. García, Ruíz, Belan Garzon, Russo, Cinzia Valeria, Ryglewicz, Danuta, Saft, Carston, Salvatore, Elena, Sánchez, Vicenta, Sando, Sigrid Botne, Šašinková, Pavla, Sass, Christian, Scheibl, Monika, Schiefer, Johannes, Schlangen, Christiane, Schmidt, Simone, Schöggl, Helmut, Schrenk, Caroline, Schüpbach, Michael, Schuierer, Michele, Sebastián, Ana Rojo, Selimbegovic-Turkovic, Amina, Sempolowicz, Justyna, Silva, Mark, Sitek, Emilia, Slawek, Jaroslaw, Snowden, Julie, Soleti, Francesco, Soliveri, Paola, Sollom, Andrea, Soltan, Witold, Sorbi, Sandro, Sorensen, Sven Asger, Spadaro, Maria, Städtler, Michael, Stamm, Christiane, Steiner, Tanja, Stokholm, Jette, Stokke, Bodil, Stopford, Cheryl, Storch, Alexander, Straßburger, Katrin, Stubbe, Lars, Sulek, Anna, Szczudlik, Andrzej, Taylor, Rachel, Terol, Santiago Duran-Sindreu, Thomas, Gareth, Thompson, Jennifer, Thomson, Aileen, Tidswell, Katherine, Torres, Maria M. Antequera, Toscano, Jean, Townhill, Jenny, Tucci, Tecla, Tuuha, Katri, Uhrova, Tereza, Valadas, Anabela, van Hout, Monique S.E., van Oostrom, J.C.H., van Vugt, Jeroen P.P., vanm, Walsem Marleen R., Vandenberghe, Wim, Verellen-Dumoulin, Christine, Vergara, Mar Ruiz, Verstappen, C.C.P., Verstraelen, Nichola, Viladrich, Celia Mareca, Villanueva, Clara, Wahlström, Jan, Warner, Thomas, Wehus, Raghild, Weindl, Adolf, Werner, Cornelius J., Westmoreland, Leann, Wiedemann, Alexandra, Wild, Edward, Wild, Sue, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wójcik, Magdalena, Wolz, Martin, Wolz, Annett, Wright, Jan, Yardumian, Pam, Yates, Shona, Yudina, Elizaveta, Zaremba, Jacek, Zaugg, Sabine W., Zdzienicka, Elzbieta, Zielonka, Daniel, Zielonka, Euginiusz, Zinzi, Paola, Zittel, Simone, Zucker, Birgrit, Adams, John, Agarwal, Pinky, Antonijevic, Irina, Beck, Christopher, Churchyard, Andrew, Colcher, Amy, Dorsey, Ray, Drazinic, Carolyn, Dubinsky, Richard, Duff, Kevin, Factor, Stewart, Foroud, Tatiana, Giuliano, Joe, Greenamyre, Timothy, Higgins, Don, Jennings, Dana, Kang, Un Jung, Kostyk, Sandra, LeDoux, Mark, Mallonee, William, Mohlo, Eric, Morgan, John, Panisset, Michel, Revilla, Fredy, Robertson, Suzanne, Robottom, Bradley, Sanchez-Ramos, Juan, Scott, Burton, Shannon, Kathleen, Shoulson, Ira, Singer, Carlos, Tabbal, Samer, van, Kammen Dan, Vetter, Louise, Walker, Francis, Warner, John, Weiner, illiam, Broyles, Janice, Clouse, Ronda, Coleman, Allison, Davis, Robert, DeLaRosa, Jeanene, Deuel, Lisa, Dietrich, Susan, Dubinsky, Hilary, Eaton, Ken, Fitzpatrick, Mary Jane, Frucht, Steven, Gartner, Maureen, Goldstein, Jody, Hickey, Charlyne, Hunt, Victoria, Jaglin, Jeana, Lindsay, Pat, Louis, Elan, Loy, Clemet, Lucarelli, Nancy, Malarick, Keith, Martin, Amanda, McInnis, Robert, Muratori, Lisa, Nucifora, Frederick, O'Neill, Christine, Palao, Alicia, Peavy, Guerry, Quesada, Monica, Schmidt, Amy, Segro, Vicki, Sperin, Elaine, Tanev, Kalo, Tempkin, Teresa, Thiede, Curtis, Zauber, Elizabeth
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306163/
https://ncbi.nlm.nih.gov/pubmed/22323755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318249f683
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