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

Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis

大规模外显子组分析揭示了肌萎缩侧索硬化症中新的罕见变异贡献

Hop, Paul J; Kooyman, Maarten; Kenna, Brendan J; Zwamborn, Ramona A J; van Eijk, Kristel R; Wang, Yan; van Dijk, Charlotte H; Bekema, Erwin; van Rheenen, Wouter; Beele, Paul; van Vugt, Joke J F A; Khleifat, Ahmad Al; Iacoangeli, Alfredo; Cooper-Knock, Johnathan; Smith, Bradley N; Topp, Simon; van der Kooi, Anneke J; Fominykh, Vera; Drory, Vivian; Lerner, Yossef; Shovman, Yehuda; Rowe, Dominic B; Williams, Kelly L; McLaughlin, Russell L; Hurt, Jessica; Huang, Yunfeng; Chen, Chia-Yen; Tsai, Ellen; Runz, Heiko; Aronica, Eleonora; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Farhan, Sali M K; Garton, Fleur C; McRae, Allan F; McCombe, Pamela A; Henderson, Robert D; Fan, Dongsheng; Šlachtová, Lenka; Høyer, Helle; Nishimura, Agnes L; Cauchi, Ruben J; Brylev, Lev; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Salas, Teresa; Mora Pardina, Jesus S; Gotkine, Marc; Povedano, Monica; Corcia, Philippe; Vourc'h, Patrick; Couratier, Philippe; Weber, Markus; Kiernan, Matthew C; Pamphlett, Roger; Blair, Ian P; de Carvalho, Mamede; Başak, Nazli A; Ingre, Caroline; Andersen, Peter M; Zinman, Lorne; Rogaeva, Ekaterina; MacKenzie, Ian R; Dupre, Nicolas; Rouleau, Guy A; Traynor, Bryan J; Ticozzi, Nicola; Chiò, Adriano; Silani, Vincenzo; Hardiman, Orla; Phatnani, Hemali; Harms, Matthew B; Dalgard, Clifton L; Glass, Jonathan D; Landers, John E; Van Damme, Philip; Morrison, Karen E; Shaw, Pamela J; Shaw, Chris E; Al-Chalabi, Ammar; van den Berg, Leonard H; Kenna, Kevin P; Veldink, Jan H

Radiation Risk in 2D Mammography Screening: A Scoping Review of Modelling Strategies and Emerging AI Applications

二维乳腺X线摄影筛查中的辐射风险:建模策略和新兴人工智能应用的范围界定综述

Moda, Nazli A; Suleiman, Mo'ayyad E; Hooshmand, Sahand; Reed, Warren M

Carotid Artery Stenting Outcomes by Neurointerventional Surgeons (CASONI)

神经介入外科医生颈动脉支架置入术结果(CASONI)

Ezzeldin, Mohamad; Hassan, Ameer E; Kerro, Ali; Martucci, Maria; Hussain, Muhammad Shazam; Mir, Osman; Sheriff, Faheem G; Kan, Peter; Ezepue, Chizoba; Janjua, Nazli A; Asif, Kaiz S; Grandhi, Ramesh; Alaraj, Ali; Niazi, Muhammad; Mansour, Ossama Yassin; Chen, Michael; Bushnaq, Saif; Tanweer, Omar; Siddiqui, Adnan H; Delora, Adam; Ezzeldin, Rime; Navpreet, Bains; Chaubal, Varun; Abdulrazzak, Mohammad Ammar; Saei, Hamzah; Rodriguez, Gustavo J; AlMajali, Mohammad; Edhayan, Gautam; Shekhlee, Amer Al; Hadjialiakbari, Christopher; Froukh, Musaab; Salah, Walid K; Nico, Elsa; Madapoosi, Adrusht; Radiaideh, Yazan; Quispe-Orozco, Darko; Haim, Oz; Garza, Noel; Maud, Alberto; Rolon-Newton, Morgan; Barakat, Benan; Gowda, Tejas; Monk, Muhammad; Ali, Zuhair; Anwoju, Tunmi; Zaidat, Osama O; Siddiq, Farhan

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

Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter PROSPAX Study

遗传性痉挛性截瘫 7 型临床试验中与患者相关的数字运动功能结局:一项多中心 PROSPAX 研究

Beichert, Lukas; Seemann, Jens; Kessler, Christoph; Traschütz, Andreas; Müller, Doreen; Dillmann-Jehn, Katrin; Ricca, Ivana; Satolli, Sara; Basak, Nazli A; Coarelli, Giulia; Timmann, Dagmar; Gagnon, Cynthia; van de Warrenburg, Bart P C; Ilg, Winfried; Synofzik, Matthis; Schüle, Rebecca

Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS

神经丝重链基因尾部和杆状结构域的突变会增加肌萎缩侧索硬化症(ALS)的风险。

Marriott, Heather; Spargo, Thomas P; Al Khleifat, Ahmad; Andersen, Peter M; Başak, Nazli A; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; de Carvalho, Mamede; Drory, Vivian; Gotkine, Marc; Landers, John E; McLaughlin, Russell; Pardina, Jesús S Mora; Morrison, Karen E; Pinto, Susana; Shaw, Christopher E; Shaw, Pamela J; Silani, Vincenzo; Ticozzi, Nicola; van Damme, Philip; van den Berg, Leonard H; Vourc'h, Patrick; Weber, Markus; Veldink, Jan H; Dobson, Richard J; Schwab, Patrick; Al-Chalabi, Ammar; Iacoangeli, Alfredo

Genetic variability in sporadic amyotrophic lateral sclerosis

散发性肌萎缩侧索硬化症的遗传变异

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

Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival

对 CAV1 和 CAV2 的大规模分析表明,它们在 ALS 患者死后脑组织中的表达水平更高,并影响患者的生存率。

Adey, Brett N; Cooper-Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H; van den Berg, Leonard H; de Carvalho, Mamede; Pinto, Susana; Mora Pardina, Jesus S; Povedano Panades, Mónica; Andersen, Peter M; Weber, Markus; Başak, Nazli A; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Landers, John E; Glass, Jonathan D; Vourc'h, Patrick; Dobson, Richard J B; Breen, Gerome; Al-Chalabi, Ammar; Jones, Ashley R; Iacoangeli, Alfredo

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

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