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

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study

法国ALS人群中SOD1和C9orf72变异体的患病率:GENIALS研究

Corcia, P; Erazo, D; Amador, M D M; Beltran, S; Bernard, E; Blasco, H; Boutoleau-Bretonniere, C; Bruneteau, G; Camdessanche, J P; Camu, W; Cassereau, J; Choumert, A; Codron, P; Cintas, P; De La Cruz, E; Danel, V; Desnuelle, C; Eyraud, N; Esselin, F; Fauret, A L; Lefilliatre, M; Fleury, M C; Genestet, S; Grapperon, A M; Guy, N; Jacquin-Piques, A; Beauvais, K; Lautrette, G; Le Masson, G; Mathis, S; Piegay, A S; Pittion-Vouyovitch, S; Sauleau, P; Soriani, M H; Vershueren, A; Mouzat, K; Guissart, C; Couratier, P; Vourc'h, P

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

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

利用大规模基因组数据,对C9orf72相关ALS/FTD药物进行无机制的重新定位

Sara Saez-Atienzar ,Cleide Dos Santos Souza ,Ruth Chia ,Selina N Beal ,Ileana Lorenzini ,Ruili Huang ,Jennifer Levy ,Camelia Burciu ,Jinhui Ding ,J Raphael Gibbs ,Ashley Jones ,Ramita Dewan ,Viviana Pensato ,Silvia Peverelli ,Lucia Corrado ,Joke J F A van Vugt ,Wouter van Rheenen ,Ceren Tunca ,Elif Bayraktar ,Menghang Xia ,Aleksey Shatunov ,Cinzia Tiloca ,Nicola Ticozzi ,Federico Verde ,Letizia Mazzini ,Kevin Kenna ,Ahmad Al Khleifat ,Sarah Opie-Martin ,Flavia Raggi ,Massimiliano Filosto ,Stefano Cotti Piccinelli ,Alessandro Padovani ,Stella Gagliardi ,Maurizio Inghilleri ,Alessandra Ferlini ,Rosario Vasta ,Andrea Calvo ,Cristina Moglia ,Antonio Canosa ,Umberto Manera ,Maurizio Grassano ,Jessica Mandrioli ,Gabriele Mora ,Christian Lunetta ,Raffaella Tanel ,Francesca Trojsi ,Patrizio Cardinali ,Salvatore Gallone ,Maura Brunetti ,Daniela Galimberti ,Maria Serpente ,Chiara Fenoglio ,Elio Scarpini ,Giacomo P Comi ,Stefania Corti ,Roberto Del Bo ,Mauro Ceroni ,Giuseppe Lauria Pinter ,Franco Taroni ,Eleonora Dalla Bella ,Enrica Bersano ,Charles J Curtis ,Sang Hyuck Lee ,Raymond Chung ,Hamel Patel ,Karen E Morrison ,Johnathan Cooper-Knock ,Pamela J Shaw ,Gerome Breen ,Richard J B Dobson ,Clifton L Dalgard ,Ammar Al-Chalabi ,Leonard H van den Berg ,Russell McLaughlin ,Orla Hardiman ,Cristina Cereda ,Gianni Sorarù ,Sandra D'Alfonso ,Siddharthan Chandran ,Suvankar Pal ,Antonia Ratti ,Cinzia Gellera ,Kory Johnson ,Tara Doucet-O'Hare ,Nicholas Pasternack ,Tongguang Wang ,Avindra Nath ,Gabriele Siciliano ,Vincenzo Silani ,Ayşe Nazlı Başak ,Jan H Veldink ,William Camu ,Jonathan D Glass ,John E Landers ,Adriano Chiò ,Rita Sattler ,Christopher E Shaw ,Laura Ferraiuolo ,Isabella Fogh ,Bryan J Traynor

A diagnostic dilemma: distinguishing a sulfasalazine induced DRESS hypersensitivity syndrome from a CD30 + lymphoma in a young patient

诊断难题:如何鉴别年轻患者中柳氮磺胺吡啶诱发的药物反应伴嗜酸性粒细胞增多和全身症状(DRESS)超敏反应综合征与CD30+淋巴瘤

Aleksandrova, Natalija; De Rop, Jonas; Camu, Frederic; Hubloue, Ives; Devue, Katleen

The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

夏科-马里-图斯 4G 病中的己糖激酶 1 5'-UTR 突变会改变己糖激酶 1 与电压依赖性阴离子通道 1 的结合,并导致线粒体钙缓冲功能障碍

Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Tanya Stojkovic, Françoise Bouhour, Philippe Latour, Nicolas Tricaud

Corrected speciation and gyromitrin content of false morels linked to ALS patients with mostly slow-acetylator phenotypes

修正后的假羊肚菌的种类和鹿花菌素含量与以慢乙酰化表型为主的 ALS 患者有关

Emmeline Lagrange, Marie-Anne Loriot, Nirmal K Chaudhary, Pam Schultz, Alden C Dirks, Claire Guissart, Timothy Y James, Jean Paul Vernoux, William Camu, Ashootosh Tripathi, Peter S Spencer

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations

HFE p.H63D (p.His63Asp) 多态性是意大利和法国 SOD1 突变型 ALS 患者预后的修饰因子

Canosa, Antonio; Calvo, Andrea; Mora, Gabriele; Moglia, Cristina; Brunetti, Maura; Barberis, Marco; Borghero, Giuseppe; Caponnetto, Claudia; Trojsi, Francesca; Spataro, Rossella; Volanti, Paolo; Simone, Isabella Laura; Salvi, Fabrizio; Logullo, Francesco Ottavio; Riva, Nilo; Tremolizzo, Lucio; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Conforti, Francesca Luisa; Zollino, Marcella; Sabatelli, Mario; Tarlarini, Claudia; Lunetta, Christian; Mazzini, Letizia; D'Alfonso, Sandra; Guy, Nathalie; Meininger, Vincent; Clavelou, Pierre; Camu, William; Chiò, Adriano; On Behalf Of Italsgen Consortium

Early-onset, conjugal, twin-discordant, and clusters of sporadic ALS: Pathway to discovery of etiology via lifetime exposome research

早发性、夫妻遗传性、双胞胎不一致型和散发性肌萎缩侧索硬化症聚集性病例:通过终生暴露组学研究发现病因

Spencer, Peter S; Palmer, Valerie S; Kisby, Glen E; Lagrange, Emmeline; Horowitz, B Zane; Valdes Angues, Raquel; Reis, Jacques; Vernoux, Jean-Paul; Raoul, Cédric; Camu, William

Prionoids in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中的朊病毒

Gosset, Philippe; Camu, William; Raoul, Cedric; Mezghrani, Alexandre

Clinical trials in pediatric ALS: a TRICALS feasibility study

儿童肌萎缩侧索硬化症临床试验:一项 TRICALS 可行性研究

Kliest, Tessa; Van Eijk, Ruben P A; Al-Chalabi, Ammar; Albanese, Alberto; Andersen, Peter M; Amador, Maria Del Mar; BrÅthen, Geir; Brunaud-Danel, Veronique; Brylev, Lev; Camu, William; De Carvalho, Mamede; Cereda, Cristina; Cetin, Hakan; Chaverri, Delia; Chiò, Adriano; Corcia, Philippe; Couratier, Philippe; De Marchi, Fabiola; Desnuelle, Claude; Van Es, Michael A; Esteban, JesÚs; Filosto, Massimiliano; GarcÍa Redondo, Alberto; Grosskreutz, Julian; Hanemann, Clemens O; HolmØy, Trygve; HØyer, Helle; Ingre, Caroline; Koritnik, Blaz; Kuzma-Kozakiewicz, Magdalena; Lambert, Thomas; Leigh, Peter N; Lunetta, Christian; Mandrioli, Jessica; Mcdermott, Christopher J; Meyer, Thomas; Mora, Jesus S; Petri, Susanne; Povedano, MÓnica; Reviers, Evy; Riva, Nilo; Roes, Kit C B; Rubio, Miguel Á; Salachas, FranÇois; Sarafov, Stayko; SorarÙ, Gianni; Stevic, Zorica; Svenstrup, Kirsten; MØller, Anette Torvin; Turner, Martin R; Van Damme, Philip; Van Leeuwen, Lucie A G; Varona, Luis; VÁzquez Costa, Juan F; Weber, Markus; Hardiman, Orla; Van Den Berg, Leonard H