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

Comparative Performances of 4 Serum NfL Assays, pTau181, and GFAP in Patients With Amyotrophic Lateral Sclerosis

肌萎缩侧索硬化症患者血清中 4 种 NfL 检测、pTau181 和 GFAP 的比较性能

Mondesert, Etienne; Delaby, Constance; De La Cruz, Elisa; Kuhle, Jens; Benkert, Pascal; Pradeilles, Nicolas; Duchiron, Marie; Morchikh, Mehdi; Camu, William; Cristol, Jean-Paul; Hirtz, Christophe; Esselin, Florence; Lehmann, Sylvain

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

MYH7相关肌病:法国多中心队列研究中的临床、肌病理学和基因型谱

Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Françoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Féasson, Léonard; Jacquin-Piques, Agnès; Richard, Pascale; Métay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforêt, Pascal; Acket, Blandine; Behin, Anthony; Fernández-Eulate, Gorka; Léonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocío Nur

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance

SMCHD1基因变异与2型面肩肱型肌营养不良症及其致病性和疾病外显率预测的挑战

Gérard, Laurène; Delourme, Mégane; Tardy, Charlotte; Ganne, Benjamin; Perrin, Pierre; Chaix, Charlene; Trani, Jean Philippe; Eudes, Nathalie; Laberthonnière, Camille; Bertaux, Karine; Missirian, Chantal; Bassez, Guillaume; Behin, Anthony; Cintas, Pascal; Cluse, Florent; De La Cruz, Elisa; Delmont, Emilien; Evangelista, Teresinha; Fradin, Mélanie; Hadouiri, Nawale; Kouton, Ludivine; Laforêt, Pascal; Lefeuvre, Claire; Magot, Armelle; Manel, Véronique; Nectoux, Juliette; Pegat, Antoine; Sole, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Svahn, Juliette; Tard, Celine; Thauvin, Christel; Verebi, Camille; Salort Campana, Emmanuelle; Attarian, Shahram; Nguyen, Karine; Badache, Ali; Bernard, Rafaëlle; Magdinier, Frédérique

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry

FSHD1患者罕见特征的患病率和预测因素:来自法国FSHD注册研究的启示

Sanson, Benoît; Slioui, Abderhmane; Garcia, Jérémy; Klouvi, Lori; Lejeune, Julie; Stalens, Caroline; Guien, Céline; Rabarimeriarijaona, Sitraka; Bernard, Rafaëlle; Nectoux, Juliette; Attarian, Sharham; Bédat-Millet, Anne-Laure; Bouhour, Françoise; Boyer, François Constant; Chanson, Jean-Baptiste; Choumert, Ariane; Cintas, Pascal; De La Cruz, Elisa; Féasson, Léonard; Fournier, Maxime; Ghorab, Karima; Jacquin-Piques, Agnès; Laforêt, Pascal; Magot, Armelle; Michaud, Maud; Noury, Jean-Baptiste; Solé, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Tard, Céline; Villa, Luisa; Béroud, Christophe; Sacconi, Sabrina

Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial

法舒地尔治疗肌萎缩侧索硬化症的安全性、耐受性和有效性(ROCK-ALS):一项 II 期随机、双盲、安慰剂对照试验

Koch, Jan C; Leha, Andreas; Bidner, Helen; Cordts, Isabell; Dorst, Johannes; Günther, René; Zeller, Daniel; Braun, Nathalie; Metelmann, Moritz; Corcia, Philippe; De La Cruz, Elisa; Weydt, Patrick; Meyer, Thomas; Großkreutz, Julian; Soriani, Marie-Hélène; Attarian, Shahram; Weishaupt, Jochen H; Weyen, Ute; Kuttler, Josua; Zurek, Gabriela; Rogers, Mary-Louise; Feneberg, Emily; Deschauer, Marcus; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus; Lingor, Paul

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

A potent and selective reaction hijacking inhibitor of Plasmodium falciparum tyrosine tRNA synthetase exhibits single dose oral efficacy in vivo.

一种强效且选择性的恶性疟原虫酪氨酸 tRNA 合成酶反应劫持抑制剂在体内表现出单剂量口服疗效

Xie Stanley C, Tai Chia-Wei, Morton Craig J, Ma Liting, Huang Shih-Chung, Wittlin Sergio, Du Yawei, Hu Yongbo, Dogovski Con, Salimimarand Mina, Griffin Robert, England Dylan, de la Cruz Elisa, Deni Ioanna, Yeo Tomas, Burkhard Anna Y, Striepen Josefine, Schindler Kyra A, Crespo Benigno, Gamo Francisco J, Khandokar Yogesh, Hutton Craig A, Rabie Tayla, Birkholtz Lyn-Marié, Famodimu Mufuliat T, Delves Michael J, Bolsher Judith, Koolen Karin M J, van der Laak Rianne, Aguiar Anna C C, Pereira Dhelio B, Guido Rafael V C, Creek Darren J, Fidock David A, Dick Lawrence R, Brand Stephen L, Gould Alexandra E, Langston Steven, Griffin Michael D W, Tilley Leann

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

多学科团队会议在脊髓性肌萎缩症成人患者治疗中的应用:创新疗法的真实案例观察

Salort-Campana, Emmanuelle; Solé, Guilhem; Magot, Armelle; Tard, Céline; Noury, Jean-Baptiste; Behin, Anthony; De La Cruz, Elisa; Boyer, François; Lefeuvre, Claire; Masingue, Marion; Debergé, Louise; Finet, Armelle; Brison, Mélanie; Spinazzi, Marco; Pegat, Antoine; Sacconi, Sabrina; Malfatti, Edoardo; Choumert, Ariane; Bellance, Rémi; Bedat-Millet, Anne-Laure; Feasson, Léonard; Vuillerot, Carole; Jacquin-Piques, Agnès; Michaud, Maud; Pereon, Yann; Stojkovic, Tanya; Laforêt, Pascal; Attarian, Shahram; Cintas, Pascal

Fully human monoclonal antibody targeting activated ADAM10 on colorectal cancer cells

针对结直肠癌细胞中激活的 ADAM10 的全人源单克隆抗体

Nayanendu Saha, Du-San Baek, Rachelle P Mendoza, Dorothea Robev, Yan Xu, Yehuda Goldgur, M Jason De La Cruz, Elisa de Stanchina, Peter W Janes, Kai Xu, Dimiter S Dimitrov, Dimitar B Nikolov

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