日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

作者更正:SOD1介导的ALS表型显示症状出现年龄与病程持续时间之间存在脱钩现象。

Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P; Al-Khleifat, Ahmad; Williams, Kelly L; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H; Landers, John E; Glass, Jonathan D; Mora, Jesus S; Robberecht, Wim; Damme, Philip Van; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P; Fan, Dong-Sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A; Siddique, Teepu; Miller, Timothy; Brown, Robert H; Al-Chalabi, Ammar; Shaw, Christopher E

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

SOD1介导的ALS表型表现出症状出现年龄与疾病持续时间之间的脱钩现象。

Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P; Al-Khleifat, Ahmad; Williams, Kelly L; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H; Landers, John E; Glass, Jonathan D; Mora, Jesus S; Robberecht, Wim; Damme, Philip Van; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P; Fan, Dong-Sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A; Siddique, Teepu; Miller, Timothy; Brown, Robert H; Al-Chalabi, Ammar; Shaw, Christopher E

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中 6500 个全基因组序列的结构变异分析

Al Khleifat, Ahmad; Iacoangeli, Alfredo; van Vugt, Joke J F A; Bowles, Harry; Moisse, Matthieu; Zwamborn, Ramona A J; van der Spek, Rick A A; Shatunov, Aleksey; Cooper-Knock, Johnathan; Topp, Simon; Byrne, Ross; Gellera, Cinzia; López, Victoria; Jones, Ashley R; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R; Kenna, Kevin; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E; Dobson, Richard; van Es, Michael A; McLaughlin, Russell L; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica P; Mora, Jesus S; Shaw, Pamela J; Landers, John E; Glass, Jonathan D; Shaw, Christopher E; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H; Veldink, Jan H; Al-Chalabi, Ammar

Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data

利用大规模全基因组测序数据分析肌萎缩侧索硬化症的端粒长度

Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R; van Vugt, Joke J F A; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A J; van der Spek, Rick A A; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R; Kenna, Kevin; Byrne, Ross; López, Victoria; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E; Dobson, Richard; van Es, Michael A; McLaughlin, Russell L; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S; Shaw, Pamela J; Landers, John E; Glass, Jonathan D; Shaw, Christopher E; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H; Veldink, Jan H; Al-Chalabi, Ammar

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

SPTLC1基因变异与青少年肌萎缩侧索硬化症的关联

Johnson, Janel O; Chia, Ruth; Miller, Danny E; Li, Rachel; Kumaran, Ravindran; Abramzon, Yevgeniya; Alahmady, Nada; Renton, Alan E; Topp, Simon D; Gibbs, J Raphael; Cookson, Mark R; Sabir, Marya S; Dalgard, Clifton L; Troakes, Claire; Jones, Ashley R; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Ticozzi, Nicola; Silani, Vincenzo; Gellera, Cinzia; Blair, Ian P; Dobson-Stone, Carol; Kwok, John B; Bonkowski, Emily S; Palvadeau, Robin; Tienari, Pentti J; Morrison, Karen E; Shaw, Pamela J; Al-Chalabi, Ammar; Brown, Robert H Jr; Calvo, Andrea; Mora, Gabriele; Al-Saif, Hind; Gotkine, Marc; Leigh, Fawn; Chang, Irene J; Perlman, Seth J; Glass, Ian; Scott, Anna I; Shaw, Christopher E; Basak, A Nazli; Landers, John E; Chiò, Adriano; Crawford, Thomas O; Smith, Bradley N; Traynor, Bryan J; Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D; Scotter, Emma L; Kenna, Kevin P; Keagle, Pamela; Tiloca, Cinzia; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; King, Andrew; Pensato, Viviana; Castellotti, Barbara; Baas, Frank; Ten Asbroek, Anneloor L M A; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Stevic, Zorica; D'Alfonso, Sandra; Mazzini, Letizia; Comi, Giacomo P; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Querin, Giorgia; Bertolin, Cinzia; van Rheenen, Wouter; Rademakers, Rosa; van Blitterswijk, Marka; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Leblond-Manry, Claire; Rouleau, Guy A; Hardiman, Orla; Morrison, Karen E; 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 Jr; Silani, Vincenzo; Shaw, Christopher E; Landers, John E; Dalgard, Clifton L; Adeleye, Adelani; Soltis, Anthony R; Alba, Camille; Viollet, Coralie; Bacikova, Dagmar; Hupalo, Daniel N; Sukumar, Gauthaman; Pollard, Harvey B; Wilkerson, Matthew D; Martinez, Elisa McGrath; Abramzon, Yevgeniya; Ahmed, Sarah; Arepalli, Sampath; Baloh, Robert H; Bowser, Robert; Brady, Christopher B; Brice, Alexis; Broach, James; Campbell, Roy H; Camu, William; Chia, Ruth; Cooper-Knock, John; Ding, Jinhui; Drepper, Carsten; Drory, Vivian E; Dunckley, Travis L; Eicher, John D; England, Bryce K; Faghri, Faraz; Feldman, Eva; Floeter, Mary Kay; Fratta, Pietro; Geiger, Joshua T; Gerhard, Glenn; Gibbs, J Raphael; Gibson, Summer B; Glass, Jonathan D; Hardy, John; Harms, Matthew B; Heiman-Patterson, Terry D; Hernandez, Dena G; Jansson, Lilja; Kirby, Janine; Kowall, Neil W; Laaksovirta, Hannu; Landeck, Natalie; Landi, Francesco; Le Ber, Isabelle; Lumbroso, Serge; MacGowan, Daniel J L; Maragakis, Nicholas J; Mora, Gabriele; Mouzat, Kevin; Murphy, Natalie A; Myllykangas, Liisa; Nalls, Mike A; Orrell, Richard W; Ostrow, Lyle W; Pamphlett, Roger; Pickering-Brown, Stuart; Pioro, Erik P; Pletnikova, Olga; Pliner, Hannah A; Pulst, Stefan M; Ravits, John M; Renton, Alan E; Rivera, Alberto; Robberecht, Wim; Rogaeva, Ekaterina; Rollinson, Sara; Rothstein, Jeffrey D; Scholz, Sonja W; Sendtner, Michael; Shaw, Pamela J; Sidle, Katie C; Simmons, Zachary; Singleton, Andrew B; Smith, Nathan; Stone, David J; Tienari, Pentti J; Troncoso, Juan C; Valori, Miko; Van Damme, Philip; Van Deerlin, Vivianna M; Van Den Bosch, Ludo; Zinman, Lorne; Landers, John E; Chiò, Adriano; Traynor, Bryan J; Angelocola, Stefania M; Ausiello, Francesco P; Barberis, Marco; Bartolomei, Ilaria; Battistini, Stefania; Bersano, Enrica; Bisogni, Giulia; Borghero, Giuseppe; Brunetti, Maura; Cabona, Corrado; Calvo, Andrea; Canale, Fabrizio; Canosa, Antonio; Cantisani, Teresa A; Capasso, Margherita; Caponnetto, Claudia; Cardinali, Patrizio; Carrera, Paola; Casale, Federico; Chiò, Adriano; Colletti, Tiziana; Conforti, Francesca L; Conte, Amelia; Conti, Elisa; Corbo, Massimo; Cuccu, Stefania; Dalla Bella, Eleonora; D'Errico, Eustachio; DeMarco, Giovanni; Dubbioso, Raffaele; Ferrarese, Carlo; Ferraro, Pilar M; Filippi, Massimo; Fini, Nicola; Floris, Gianluca; Fuda, Giuseppe; Gallone, Salvatore; Gianferrari, Giulia; Giannini, Fabio; Grassano, Maurizio; Greco, Lucia; Iazzolino, Barbara; Introna, Alessandro; La Bella, Vincenzo; Lattante, Serena; Lauria, Giuseppe; Liguori, Rocco; Logroscino, Giancarlo; Logullo, Francesco O; Lunetta, Christian; Mandich, Paola; Mandrioli, Jessica; Manera, Umberto; Manganelli, Fiore; Marangi, Giuseppe; Marinou, Kalliopi; Marrosu, Maria Giovanna; Martinelli, Ilaria; Messina, Sonia; Moglia, Cristina; Mora, Gabriele; Mosca, Lorena; Murru, Maria R; Origone, Paola; Passaniti, Carla; Petrelli, Cristina; Petrucci, Antonio; Pozzi, Susanna; Pugliatti, Maura; Quattrini, Angelo; Ricci, Claudia; Riolo, Giulia; Riva, Nilo; Russo, Massimo; Sabatelli, Mario; Salamone, Paolina; Salivetto, Marco; Salvi, Fabrizio; Santarelli, Marialuisa; Sbaiz, Luca; Sideri, Riccardo; Simone, Isabella; Simonini, Cecilia; Spataro, Rossella; Tanel, Raffaella; Tedeschi, Gioacchino; Ticca, Anna; Torriello, Antonella; Tranquilli, Stefania; Tremolizzo, Lucio; Trojsi, Francesca; Vasta, Rosario; Vacchiano, Veria; Vita, Giuseppe; Volanti, Paolo; Zollino, Marcella; Zucchi, Elisabetta

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

SMN基因剂量对ALS风险和疾病严重程度的影响

Moisse, Matthieu; Zwamborn, Ramona A J; van Vugt, Joke; van der Spek, Rick; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel; Kenna, Kevin; Corcia, Philippe; Couratier, Philippe; Vourc'h, Patrick; Hardiman, Orla; McLaughin, Russell; Gotkine, Marc; Drory, Vivian; Ticozzi, Nicola; Silani, Vincenzo; de Carvalho, Mamede; Mora Pardina, Jesús S; Povedano, Monica; Andersen, Peter M; Weber, Markus; Başak, Nazli A; Chen, Xiao; Eberle, Michael A; Al-Chalabi, Ammar; Shaw, Chris; Shaw, Pamela J; Morrison, Karen E; Landers, John E; Glass, Jonathan D; Robberecht, Wim; van Es, Michael; van den Berg, Leonard; Veldink, Jan; Van Damme, Philip

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

肌萎缩侧索硬化症中SCFD1表达的数量性状位点存在差异表达

Iacoangeli, Alfredo; Fogh, Isabella; Selvackadunco, Sashika; Topp, Simon D; Shatunov, Aleksey; van Rheenen, Wouter; Al-Khleifat, Ahmad; Opie-Martin, Sarah; Ratti, Antonia; Calvo, Andrea; Van Damme, Philip; Robberecht, Wim; Chio, Adriano; Dobson, Richard J; Hardiman, Orla; Shaw, Christopher E; van den Berg, Leonard H; Andersen, Peter M; Smith, Bradley N; Silani, Vincenzo; Veldink, Jan H; Breen, Gerome; Troakes, Claire; Al-Chalabi, Ammar; Jones, Ashley R

RNA toxicity in non-coding repeat expansion disorders

非编码重复序列扩增疾病中的RNA毒性

Swinnen, Bart; Robberecht, Wim; Van Den Bosch, Ludo

Intracerebroventricular delivery of vascular endothelial growth factor in patients with amyotrophic lateral sclerosis, a phase I study

脑室内注射血管内皮生长因子治疗肌萎缩侧索硬化症患者的 I 期研究

Van Damme, Philip; Tilkin, Petra; Mercer, Katarina Jansson; Terryn, Joke; D'Hondt, Ann; Herne, Nina; Tousseyn, Thomas; Claeys, Kristl G; Thal, Dietmar R; Zachrisson, Olof; Almqvist, Per; Nuttin, Bart; Jerling, Markus; Bernadotte, Folke; Haegerstrand, Anders; Robberecht, Wim

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization.

ATXN1 重复扩增会增加患肌萎缩侧索硬化症的风险,并导致 TDP-43 错误定位

Tazelaar Gijs H P, Boeynaems Steven, De Decker Mathias, van Vugt Joke J F A, Kool Lindy, Goedee H Stephan, McLaughlin Russell L, Sproviero William, Iacoangeli Alfredo, Moisse Matthieu, Jacquemyn Maarten, Daelemans Dirk, Dekker Annelot M, van der Spek Rick A, Westeneng Henk-Jan, Kenna Kevin P, Assialioui Abdelilah, Da Silva Nica, Povedano Mónica, Pardina Jesus S Mora, Hardiman Orla, Salachas François, Millecamps Stéphanie, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Pasterkamp R Jeroen, Landers John E, Van Den Bosch Ludo, Robberecht Wim, Al-Chalabi Ammar, van den Berg Leonard H, Van Damme Philip, Veldink Jan H, van Es Michael A