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

Protocol for monitoring cytoplasmic Ca(2+) dynamics using Fura Red-AM on a Zeiss Axio Observer microscope

使用蔡司 Axio Observer 显微镜和 Fura Red-AM 监测细胞质 Ca(2+) 动态变化的实验方案

Beaumier, Sabrina; Bartoli, Marc

Zinc binding to a conserved motif in STIM1 induces clustering and SOCE activation

锌与STIM1中保守基序的结合诱导聚集和SOCE激活。

Alary, Benedicte; Baksheeva, Viktoriia E; Beaumier, Sabrina; Ferracci, Géraldine; Villard, Claude; Golovin, Andrey V; Courrier, Sébastien; Devred, François; Bartoli, Marc; Tsvetkov, Philipp O

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

对肌营养不良症突变基因的系统级分析揭示了一种与肌肉无力分布相关的功能模式

Ozisik, Ozan; Gorokhova, Svetlana; Cerino, Mathieu; Bartoli, Marc; Baudot, Anaïs

Editorial: Personalized medicine for neuromuscular disorders

社论:神经肌肉疾病的个体化治疗

Bartoli, Marc; Bailey, Rachel M; Meyer, Kathrin; Barthélémy, Florian

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

肌病相关基因临床可操作性的客观评价:63个对患者护理具有医学价值的基因

Vecten, Maude; Pion, Emmanuelle; Bartoli, Marc; Morales, Raul Juntas; Sternberg, Damien; Rendu, John; Stojkovic, Tanya; Bourdain, Cécile Acquaviva; Métay, Corinne; Richard, Isabelle; Cerino, Mathieu; Milh, Mathieu; Campana-Salort, Emmanuelle; Gorokhova, Svetlana; Levy, Nicolas; Latypova, Xénia; Bonne, Gisèle; Biancalana, Valérie; Petit, François; Molon, Annamaria; Perrin, Aurélien; Laforêt, Pascal; Attarian, Shahram; Krahn, Martin; Cossée, Mireille

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

CAPN3 c.598_612del15 的常染色体显性遗传与轻度钙蛋白酶病相关。

Cerino, Mathieu; Bartoli, Marc; Riccardi, Florence; Le Goanvic, Brigitte; Blanck, Véronique; Salvi, Alexandra; Lévy, Nicolas; Krahn, Martin; Choumert, Ariane

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

GLE1相关疾病的表型谱扩展至类似先天性肌病的轻度先天性形式

Cerino, Mathieu; Di Meglio, Chloé; Albertini, Francesca; Audic, Frédérique; Riccardi, Florence; Boulay, Christophe; Philip, Nicole; Bartoli, Marc; Lévy, Nicolas; Krahn, Martin; Chabrol, Brigitte

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation.

纠正由新型内含子 dysferlin 突变引起的假外显子剪接

Dominov Janice A, Uyan Özgün, McKenna-Yasek Diane, Nallamilli Babi Ramesh Reddy, Kergourlay Virginie, Bartoli Marc, Levy Nicolas, Hudson Judith, Evangelista Teresinha, Lochmuller Hanns, Krahn Martin, Rufibach Laura, Hegde Madhuri, Brown Robert H Jr

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

面肩肱型肌营养不良和嵌合体患者的深度测序证实了甲基化热点。

Roche, Stéphane; Dion, Camille; Broucqsault, Natacha; Laberthonnière, Camille; Gaillard, Marie-Cécile; Robin, Jérôme D; Lagarde, Arnaud; Puppo, Francesca; Vovan, Catherine; Chaix, Charlene; Campana, Emmanuelle Salort; Attarian, Shahram; Bartoli, Marc; Bernard, Rafaelle; Nguyen, Karine; Magdinier, Frédérique

VarAFT: a variant annotation and filtration system for human next generation sequencing data

VarAFT:一种用于人类二代测序数据的变异注释和过滤系统

Desvignes, Jean-Pierre; Bartoli, Marc; Delague, Valérie; Krahn, Martin; Miltgen, Morgane; Béroud, Christophe; Salgado, David