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

Neuropathological analysis of an ALS patient carrying a SOD1 missense variant and a C9orf72 repeat expansion

对一名携带 SOD1 错义变异和 C9orf72 重复扩增的 ALS 患者进行神经病理学分析

Miki, Tomoko; De Bertier, Sibylle; Amador, Maria-Del-Mar; Nicolas, Mélusine; Guissart, Claire; Deret, Marion; Teyssou, Elisa; Muratet, François; Bohl, Delphine; Lobsiger, Christian S; Boillée, Séverine; Esselin, Florence; Salachas, François; Millecamps, Stéphanie; Seilhean, Danielle

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

双等位基因中间型 ATXN2 重复序列扩增与进展缓慢、腿部起病的家族性 ALS 相关。

Demaegd, Koen Cedric; Koole, Wouter; van Vugt, Joke Jfa; Dankbaar, Jan Willem; Hendrikse, Jeroen; Nazlı Başak, A; de Carvalho, Mamede; Corcia, Philippe; Codron, Philippe; Bernard, Emilien; Guissart, Claire; Couratier, Philippe; Povedano Panades, Mónica; van Doorn, Pieter A; Warrenburg, Bart P; Cooper-Knock, Johnathan; Pasterkamp, R Jeroen; van Rheenen, Wouter; van Damme, Philip; van den Berg, Leonard H; Veldink, Jan Herman; van Es, Michael A

Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance

通过功能性检测改进ALS分子诊断:重新评估意义未明的SOD1变异体

Bedja-Iacona, Léa; Forget, Arthur; Boisseau, Chloé; Marouillat, Sylviane; Chudinova, Aleksandra; Veyrat-Durebex, Charlotte; Guissart, Claire; Lumbroso, Serge; Raoul, Cédric; Andres, Christian R; Blasco, Hélène; Couratier, Philippe; Corcia, Philippe; Verschueren, Annie; Mouzat, Kevin; Vourc'h, Patrick

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

A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis

KIF1A基因中一种新的从头错义突变与早发性上肢肌萎缩侧索硬化症相关

Bernard, Emilien; Cluse, Florent; Bohic, Adrien; Hermier, Marc; Raoul, Cédric; Leblanc, Pascal; Guissart, Claire

The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons

ALS 相关的 KIF5A P986L 变体对果蝇运动神经元无致病性

Sophie Layalle, Franck Aimond, Véronique Brugioti, Claire Guissart, Cédric Raoul, Laurent Soustelle

Liquid foaming of TPU with Methylal

甲基醛对TPU进行液态发泡

Miele, Lorenzo; Di Lorenzo, Emilia; Guissart, Céline; Di Maio, Ernesto

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

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

人类ATG7介导的自噬缺陷的发育后果

Collier, Jack J; Guissart, Claire; Oláhová, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schöls, Ludger; Polvikoski, Tuomo M; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M; Alsaif, Hessa S; Alyamani, Suad; Zuchner, Stephan; Barbosa, Inês A; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S; Rivier, François; Ryten, Mina; McFarland, Robert; Delahodde, Agnès; McWilliams, Thomas G; Koenig, Michel; Taylor, Robert W

Two neurologic facets of CTLA4-related haploinsufficiency

CTLA4相关单倍体功能不全的两个神经系统方面

Ayrignac, Xavier; Goulabchand, Radjiv; Jeziorski, Eric; Rullier, Patricia; Carra-Dallière, Clarissa; Lozano, Claire; Portales, Pierre; Vincent, Thierry; Viallard, Jean François; Menjot de Champfleur, Nicolas; Rieux-Laucat, Frédéric; Besnard, Caroline; Koenig, Michel; Guissart, Claire; Labauge, Pierre; Guilpain, Philippe