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

Muscle fibroblasts and stem cells stimulate motor neurons in an age and exercise-dependent manner.

肌肉成纤维细胞和干细胞以与年龄和运动相关的方式刺激运动神经元

Soendenbroe Casper, Schjerling Peter, Bechshøft Cecilie J L, Svensson Rene B, Schaeffer Laurent, Kjaer Michael, Chazaud Bénédicte, Jacquier Arnaud, Mackey Abigail L

Homozygous COQ9 mutation: a new cause of potentially treatable hereditary spastic paraplegia.

纯合子 COQ9 突变:一种可能可治疗的遗传性痉挛性截瘫的新病因

Fontaine Fanny, Labalme Audrey, Laurencin Chloé, Theuriet Julian, Jacquier Arnaud, Lacoste Nicolas, Streichenberger Nathalie, Lesca Gaëtan, Allouche Stéphane

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

法国人群中非5q近端脊髓性肌萎缩症的基因特征分析:全外显子组测序的作用

Theuriet, Julian; Fernandez-Eulate, Gorka; Latour, Philippe; Stojkovic, Tanya; Masingue, Marion; Vidoni, Léo; Bernard, Emilien; Jacquier, Arnaud; Schaeffer, Laurent; Salort-Campana, Emmanuelle; Chanson, Jean-Baptiste; Pakleza, Aleksandra Nadaj; Kaminsky, Anne-Laure; Svahn, Juliette; Manel, Véronique; Bouhour, Françoise; Pegat, Antoine

Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype

由NEFH基因变异引起的2CC型夏科-马里-图斯病会导致进行性、非长度依赖性、以运动障碍为主的表型。

Pipis, Menelaos; Cortese, Andrea; Polke, James M; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M; Reilly, Mary M

Microrchidia CW-Type Zinc Finger 2, a Chromatin Modifier in a Spectrum of Peripheral Neuropathies

小睾丸 CW 型锌指蛋白 2,一种在周围神经病变谱系中发挥作用的染色质修饰因子

Jacquier, Arnaud; Roubille, Simon; Lomonte, Patrick; Schaeffer, Laurent

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

VMA21基因内含子新突变导致X连锁肌病严重表型伴过度自噬——病例报告

Pegat, Antoine; Streichenberger, Nathalie; Lacoste, Nicolas; Hermier, Marc; Menassa, Rita; Coudert, Laurent; Theuriet, Julian; Froissart, Roseline; Terrone, Sophie; Bouhour, Francoise; Michel-Calemard, Laurence; Schaeffer, Laurent; Jacquier, Arnaud

Sensory neuropathy in progressive motor neuronopathy (pmn) mice is associated with defects in microtubule polymerization and axonal transport

进行性运动神经元病(PMN)小鼠的感觉神经病变与微管聚合和轴突运输缺陷有关。

Schäfer, Michael K; Bellouze, Sarah; Jacquier, Arnaud; Schaller, Sébastien; Richard, Laurence; Mathis, Stéphane; Vallat, Jean-Michel; Haase, Georg

The Regulatory Machinery of Neurodegeneration in In Vitro Models of Amyotrophic Lateral Sclerosis.

肌萎缩侧索硬化症体外模型中神经退行性变的调控机制

Ikiz Burcin, Alvarez Mariano J, Ré Diane B, Le Verche Virginia, Politi Kristin, Lotti Francesco, Phani Sudarshan, Pradhan Radhika, Yu Changhao, Croft Gist F, Jacquier Arnaud, Henderson Christopher E, Califano Andrea, Przedborski Serge

Inflammation in ALS and SMA: sorting out the good from the evil

肌萎缩侧索硬化症和脊髓性肌萎缩症中的炎症:区分好与坏

Papadimitriou, Dimitra; Le Verche, Virginia; Jacquier, Arnaud; Ikiz, Burcin; Przedborski, Serge; Re, Diane B