Результати пошуку - Sapp, Peter C

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides за авторством Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi R R, Hegde, Madhuri, Brown, Robert H

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Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides за авторством Dominov, Janice A, Uyan, Özgün, Sapp, Peter C, McKenna-Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Hegde, Madhuri, Brown, Robert H

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Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing за авторством Jones, Takako I, Yan, Chi, Sapp, Peter C, McKenna-Yasek, Diane, Kang, Peter B, Quinn, Colin, Salameh, Johnny S, King, Oliver D, Jones, Peter L

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Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS за авторством González-Pérez, Paloma, Lu, Yubing, Chian, Ru-Ju, Sapp, Peter C., Tanzi, Rudolph E., Bertram, Lars, McKenna-Yasek, Diane, Gao, Fen-Biao, Brown, Robert H.

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Mutational Analysis of TARDBP in Neurodegenerative Diseases за авторством Ticozzi, Nicola, LeClerc, Ashley Lyn, Van-Blitterswijk, Marka, Keagle, Pamela, McKenna-Yasek, Diane M., Sapp, Peter C., Silani, Vincenzo, Wills, Anne-Marie, Brown, Robert H., Landers, John E.

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A high-throughput screen to identify inhibitors of SOD1 transcription за авторством Wright, Paul D, Wightman, Nicholas, Huang, Mickey, Weiss, Alexandra, Sapp, Peter C, Cuny, Gregory D, Ivinson, Adrian J, Glicksman, Marcie A, Ferrante, Robert J, Matson, Wayne, Matson, Samantha, Brown, Robert H

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Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS за авторством Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H.

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Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis за авторством González-Pérez, Paloma, Cirulli, Elizabeth T., Drory, Vivian E., Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L., Sadeh, Menachem, Fox, Andrew, Festoff, Barry W., Sapp, Peter C., McKenna-Yasek, Diane, Goldstein, David B., Brown, Robert H., Blumen, Sergiu C.

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Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis за авторством Sapp, Peter C., Hosler, Betsy A., McKenna-Yasek, Diane, Chin, Wendy, Gann, Amity, Genise, Hilary, Gorenstein, Julie, Huang, Michael, Sailer, Wen, Scheffler, Meg, Valesky, Marianne, Haines, Jonathan L., Pericak-Vance, Margaret, Siddique, Teepu, Horvitz, H. Robert, Brown Jr., Robert H.

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A common haplotype within the PON1 promoter region is associated with sporadic ALS за авторством Landers, John E., Shi, Lijia, Cho, Ting-Jan, Glass, Jonathan D., Shaw, Christopher E., Leigh, P. Nigel, Diekstra, Frank, Polak, Meraida, Rodriguez-Leyva, Ildefonso, Niemann, Stephan, Traynor, Bryan J., Mckenna-Yasek, Diane, Sapp, Peter C., Al-Chalabi, Ammar, Wills, Anne-Marie A., Brown, Robert H.

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Paraoxonase Gene Mutations in Amyotrophic Lateral Sclerosis за авторством Ticozzi, Nicola, LeClerc, Ashley Lyn, Keagle, Pamela, Glass, Jonathan D., Wills, Anne-Marie, van Blitterswijk, Marka, Bosco, Daryl A., Rodriguez-Leyva, Ildefonso, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, McKenna-Yasek, Diane M., Sapp, Peter C., Silani, Vincenzo, Furlong, Clement E., Brown, Robert H., Landers, John E.

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Expression of human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice за авторством Peters, Owen M., Cabrera, Gabriela Toro, Tran, Helene, Gendron, Tania F., McKeon, Jeanne E., Metterville, Jake, Weiss, Alexandra, Wightman, Nicholas, Salameh, Johnny, Kim, Juyhun, Sun, Huaming, Boylan, Kevin B., Dickson, Dennis, Kennedy, Zack, Lin, Ziqiang, Zhang, Yong-Jie, Daughrity, Lillian, Jung, Chris, Gao, Fen-Biao, Sapp, Peter C., Horvitz, H Robert, Bosco, Daryl A., Brown, Solange P., de Jong, Pieter, Petrucelli, Leonard, Mueller, Chris, Brown, Robert H.

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The distinct genetic pattern of ALS in Turkey and novel mutations за авторством Özoguz, Aslıhan, Uyan, Özgün, Birdal, Güneş, Iskender, Ceren, Kartal, Ece, Lahut, Suna, Ömür, Özgür, Agim, Zeynep Sena, Eken, Aslı Gündogdu, Sen, Nesli Ece, Kavak, Pınar, Saygı, Ceren, Sapp, Peter C., Keagle, Pamela, Parman, Yeşim, Tan, Ersin, Koç, Filiz, Deymeer, Feza, Oflazer, Piraye, Hanağası, Haşmet, Gürvit, Hakan, Bilgiç, Başar, Durmuş, Hacer, Ertaş, Mustafa, Kotan, Dilcan, Akalın, Mehmet Ali, Güllüoğlu, Halil, Zarifoğlu, Mehmet, Aysal, Fikret, Döşoğlu, Nilgün, Bilguvar, Kaya, Günel, Murat, Keskin, Özlem, Akgün, Tahsin, Özçelik, Hilmi, Landers, John E., Brown, Robert H., Başak, A. Nazlı

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Mutations in the Profilin 1 Gene Cause Familial Amyotrophic Lateral Sclerosis за авторством Wu, Chi-Hong, Fallini, Claudia, Ticozzi, Nicola, Keagle, Pamela J., Sapp, Peter C., Piotrowska, Katarzyna, Lowe, Patrick, Koppers, Max, McKenna-Yasek, Diane, Baron, Desiree M., Kost, Jason E., Gonzalez-Perez, Paloma, Fox, Andrew D., Adams, Jenni, Taroni, Franco, Tiloca, Cinzia, Leclerc, Ashley Lyn, Chafe, Shawn C., Mangroo, Dev, Moore, Melissa J., Zitzewitz, Jill A., Xu, Zuo-Shang, van den Berg, Leonard H., Glass, Jonathan D., Siciliano, Gabriele, Cirulli, Elizabeth T., Goldstein, David B., Salachas, Francois, Meininger, Vincent, Rossoll, Wilfried, Ratti, Antonia, Gellera, Cinzia, Bosco, Daryl A., Bassell, Gary J., Silani, Vincenzo, Drory, Vivian E., Brown, Robert H., Landers, John E.

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The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder за авторством Smith, Bradley N, Newhouse, Stephen, Shatunov, Aleksey, Vance, Caroline, Topp, Simon, Johnson, Lauren, Miller, Jack, Lee, Younbok, Troakes, Claire, Scott, Kirsten M, Jones, Ashley, Gray, Ian, Wright, Jamie, Hortobágyi, Tibor, Al-Sarraj, Safa, Rogelj, Boris, Powell, John, Lupton, Michelle, Lovestone, Simon, Sapp, Peter C, Weber, Markus, Nestor, Peter J, Schelhaas, Helenius J, Asbroek, Anneloor ALM ten, Silani, Vincenzo, Gellera, Cinzia, Taroni, Franco, Ticozzi, Nicola, Van den Berg, Leonard, Veldink, Jan, Van Damme, Phillip, Robberecht, Wim, Shaw, Pamela J, Kirby, Janine, Pall, Hardev, Morrison, Karen E, Morris, Alex, de Belleroche, Jacqueline, Vianney de Jong, J M B, Baas, Frank, Andersen, Peter M, Landers, John, Brown, Robert H, Weale, Michael E, Al-Chalabi, Ammar, Shaw, Christopher E

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Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis за авторством Landers, John E., Melki, Judith, Meininger, Vincent, Glass, Jonathan D., van den Berg, Leonard H., van Es, Michael A., Sapp, Peter C., van Vught, Paul W. J., McKenna-Yasek, Diane M., Blauw, Hylke M., Cho, Ting-Jan, Polak, Meraida, Shi, Lijia, Wills, Anne-Marie, Broom, Wendy J., Ticozzi, Nicola, Silani, Vincenzo, Ozoguz, Aslihan, Rodriguez-Leyva, Ildefonso, Veldink, Jan H., Ivinson, Adrian J., Saris, Christiaan G. J., Hosler, Betsy A., Barnes-Nessa, Alayna, Couture, Nicole, Wokke, John H. J., Kwiatkowski, Thomas J., Ophoff, Roel A., Cronin, Simon, Hardiman, Orla, Diekstra, Frank P., Leigh, P. Nigel, Shaw, Christopher E., Simpson, Claire L., Hansen, Valerie K., Powell, John F., Corcia, Philippe, Salachas, François, Heath, Simon, Galan, Pilar, Georges, Franck, Horvitz, H. Robert, Lathrop, Mark, Purcell, Shaun, Al-Chalabi, Ammar, Brown, Robert H.

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Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis за авторством Smith, Bradley N., Topp, Simon D., Fallini, Claudia, Shibata, Hideki, Chen, Han-Jou, Troakes, Claire, King, Andrew, Ticozzi, Nicola, Kenna, Kevin P., Soragia-Gkazi, Athina, Miller, Jack W., Sato, Akane, Dias, Diana Marques, Jeon, Maryangel, Vance, Caroline, Wong, Chun Hao, de Majo, Martina, Kattuah, Wejdan, Mitchell, Jacqueline C., Scotter, Emma L., Parkin, Nicholas W., Sapp, Peter C., Nolan, Matthew, Nestor, Peter J., Simpson, Michael, Weale, Michael, Lek, Monkel, Baas, Frank, de Jong, J. M. Vianney, ten Asbroek, Anneloor L. M. A., Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Leigh, Nigel, Pall, Hardev, Morrison, Karen E., Al-Chalabi, Ammar, Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Maki, Masatoshi, Moss, Stephen E., Miller, Christopher, Gellera, Cinzia, Ratti, Antonia, Al-Sarraj, Safa, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.

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Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS за авторством Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, oz-Blanco, José Luis Muñ, Simpson, Michael, Consortium, SLAGEN, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.

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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways за авторством Cirulli, Elizabeth T., Lasseigne, Brittany N., Petrovski, Slavé, Sapp, Peter C., Dion, Patrick A., Leblond, Claire S., Couthouis, Julien, Lu, Yi-Fan, Wang, Quanli, Krueger, Brian J., Ren, Zhong, Keebler, Jonathan, Han, Yujun, Levy, Shawn E., Boone, Braden E., Wimbish, Jack R., Waite, Lindsay L., Jones, Angela L., Carulli, John P., Day-Williams, Aaron G., Staropoli, John F., Xin, Winnie W., Chesi, Alessandra, Raphael, Alya R., McKenna-Yasek, Diane, Cady, Janet, de Jong, J.M.B. Vianney, Kenna, Kevin P., Smith, Bradley N., Topp, Simon, Miller, Jack, Gkazi, Athina, Al-Chalabi, Ammar, van den Berg, Leonard H., Veldink, Jan, Silani, Vincenzo, Ticozzi, Nicola, Shaw, Christopher E., Baloh, Robert H., Appel, Stanley, Simpson, Ericka, Lagier-Tourenne, Clotilde, Pulst, Stefan M., Gibson, Summer, Trojanowski, John Q., Elman, Lauren, McCluskey, Leo, Grossman, Murray, Shneider, Neil A., Chung, Wendy K., Ravits, John M., Glass, Jonathan D., Sims, Katherine B., Van Deerlin, Vivianna M., Maniatis, Tom, Hayes, Sebastian D., Ordureau, Alban, Swarup, Sharan, Landers, John, Baas, Frank, Allen, Andrew S., Bedlack, Richard S., Harper, J. Wade, Gitler, Aaron D., Rouleau, Guy A., Brown, Robert, Harms, Matthew B., Cooper, Gregory M., Harris, Tim, Myers, Richard M., Goldstein, David B.

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis за авторством Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Asbroek, Anneloor L M A ten, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E

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