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

CREB3 gain of function variants protect against ALS.

CREB3 功能获得性变异可预防 ALS

Megat Salim, Marques Christine, Hernán-Godoy Marina, Sellier Chantal, Stuart-Lopez Geoffrey, Dirrig-Grosch Sylvie, Gorin Charlotte, Brunet Aurore, Fischer Mathieu, Keime Céline, Kessler Pascal, Mendoza-Parra Marco Antonio, Zwamborn Ramona A J, Veldink Jan H, Scholz Sonja W, Ferrucci Luigi, Ludolph Albert, Traynor Bryan, Chio Adriano, Dupuis Luc, Rouaux Caroline

Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

作者更正:整合遗传分析揭示了ALS的遗传性并识别出风险基因

Megat, Salim; Mora, Natalia; Sanogo, Jason; Roman, Olga; Catanese, Alberto; Alami, Najwa Ouali; Freischmidt, Axel; Mingaj, Xhuljana; De Calbiac, Hortense; Muratet, François; Dirrig-Grosch, Sylvie; Dieterle, Stéphane; Van Bakel, Nick; Müller, Kathrin; Sieverding, Kirsten; Weishaupt, Jochen; Andersen, Peter Munch; Weber, Markus; Neuwirth, Christoph; Margelisch, Markus; Sommacal, Andreas; Van Eijk, Kristel R; Veldink, Jan H; Lautrette, Géraldine; Couratier, Philippe; Camuzat, Agnès; Le Ber, Isabelle; Grassano, Maurizio; Chio, Adriano; Boeckers, Tobias; Ludolph, Albert C; Roselli, Francesco; Yilmazer-Hanke, Deniz; Millecamps, Stéphanie; Kabashi, Edor; Storkebaum, Erik; Sellier, Chantal; Dupuis, Luc

Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy

柔红霉素可减少由 CUG 重复序列扩增引起的 MBNL1 隔离,并挽救强直性肌营养不良果蝇模型中的心脏功能障碍。

Chakraborty, Mouli; Sellier, Chantal; Ney, Michel; Pascal, Villa; Charlet-Berguerand, Nicolas; Artero, Ruben; Llamusi, Beatriz

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

脆性X震颤共济失调综合征中与重复序列相关的非AUG起始密码子(RAN)翻译及其他分子机制

Glineburg, M Rebecca; Todd, Peter K; Charlet-Berguerand, Nicolas; Sellier, Chantal

C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy

C9ORF72是Rab8和Rab39的GDP/GTP交换因子,并调节自噬。

Corbier, Camille; Sellier, Chantal

Erratum to: Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

勘误:利用iPSC衍生的人类神经元中的C9ORF72重复扩增模拟额颞叶痴呆的关键病理特征

Schludi, Martin H; May, Stephanie; Grässer, Friedrich A; Rentzsch, Kristin; Kremmer, Elisabeth; Küpper, Clemens; Klopstock, Thomas; Arzberger, Thomas; Edbauer, Dieter; Wang, Chao; Klechikov, Alexey G; Gharibyan, Anna L; Wärmländer, Sebastian K T S; Jarvet, Jüri; Zhao, Lina; Jia, Xueen; Narayana, Vinod K; Shankar, S K; Olofsson, Anders; Brännström, Thomas; Mu, Yuguang; Gräslund, Astrid; Morozova-Roche, Ludmilla A; Almeida, Sandra; Gascon, Eduardo; Tran, Hélène; Chou, Hsin Jung; Gendron, Tania F; DeGroot, Steven; Tapper, Andrew R; Sellier, Chantal; Charlet-Berguerand, Nicolas; Karydas, Anna; Seeley, William W; Boxer, Adam L; Petrucelli, Leonard; Miller, Bruce L; Gao, Fen-Biao

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

在一名脆性X染色体前突变携带者(伴有脆性X染色体相关震颤/共济失调综合征)的中枢神经系统和非中枢神经系统器官中发现FMRpolyG阳性包涵体。

Buijsen, Ronald A M; Sellier, Chantal; Severijnen, Lies-Anne W F M; Oulad-Abdelghani, Mustapha; Verhagen, Rob F M; Berman, Robert F; Charlet-Berguerand, Nicolas; Willemsen, Rob; Hukema, Renate K

The multiple molecular facets of fragile X-associated tremor/ataxia syndrome

脆性X染色体相关震颤/共济失调综合征的多重分子机制

Sellier, Chantal; Usdin, Karen; Pastori, Chiara; Peschansky, Veronica J; Tassone, Flora; Charlet-Berguerand, Nicolas

A small molecule that targets r(CGG)(exp) and improves defects in fragile X-associated tremor ataxia syndrome

一种靶向r(CGG)(exp)的小分子,可改善脆性X染色体相关震颤共济失调综合征的缺陷。

Disney, Matthew D; Liu, Biao; Yang, Wang-Yong; Sellier, Chantal; Tran, Tuan; Charlet-Berguerand, Nicolas; Childs-Disney, Jessica L

T-cell and serological responses to Erp, an exported Mycobacterium tuberculosis protein, in tuberculosis patients and healthy individuals

结核病患者和健康个体对 Erp(一种输出型结核分枝杆菌蛋白)的 T 细胞和血清学反应

Valérie Martinez, Guislaine Carcelain, Edgar Badell, Marc Jouan, Isabelle Mauger, Pierre Sellier, Chantal Truffot, François Bricaire, Sandra M Arend, Tom Ottenhoff, Brigitte Autran, Brigitte Gicquel