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

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1

Nusinersen 与基因疗法在 1 型脊髓性肌萎缩症中的临床疗效比较

Ropars, Juliette; Cances, Claude; Garcia-Uzquiano, Rocio; Gomez-Garcia de la Banda, Marta; Barnerias, Christine; Audic, Frédérique; Durigneux, Julien; Halbert, Cécile; Nkam, Lionelle; Laugel, Vincent; Espil, Caroline; Walther-Louvier, Ulrike; Davion, Jean-Baptiste; Isapof, Arnaud; Le Goff, Laure; Desguerre, Isabelle; Quijano-Roy, Susana; Grimaldi, Lamiae

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

ESRRG基因变异与一种显性遗传的非进行性先天性运动障碍伴共济失调有关。

Bresack, Brandon; Kohl, Laura Renée; Afenjar, Alexandra; Audic, Frédérique; Burglen, Lydie; Charles, Perrine; Dundar, Nihal Olgac; van de Kamp, Jiddeke; Machol, Keren; Magoulas, Pilar; Goze-Martineau, Odile; Motazacker, Mahdi; Philippi, Heike; Reyes, Alejandra; Tutakhel, Omar A Z; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry

Transcriptome Meta-Analysis Uncovers Cell-Specific Regulatory Relationships in Embryonic, Juvenile, Adult, and Aged Mouse Lens Epithelium and Fibers

转录组荟萃分析揭示小鼠胚胎、幼年、成年和老年晶状体上皮和纤维中细胞特异性调控关系

Duot, Matthieu; Coomson, Sarah Y; Shrestha, Sanjaya K; Nagulla, M V Murali Krishna; Audic, Yann; Barve, Ruteja A; Huang, Hongzhan; Gautier-Courteille, Carole; Paillard, Luc; Lachke, Salil A

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French Population: Registre SMA France

法国人群中携带4个SMN2基因拷贝的SMA患者的表型谱:法国SMA登记研究

Gerin, Lorène; Ropars, Juliette; Garcia-Uzquiano, Rocío; Gómez-García De la Banda, Marta; Saugier-Veber, Pascale; Desguerre, Isabelle; Salort-Campana, Emmanuelle; Espil, Caroline; Barnerias, Christine; Laugel, Vincent; Cances, Claude; Audic, Frederique; Cintas, Pascal; Le Goff, Laure; Mallaret, Martial; Nouguès, Marie-Christine; Drunat, Séverine; Tard, Céline; Grimaldi, Lamiae; Quijano-Roy, Susana

Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability

对照组儿童运动单元数量指数(MUNIX):参考值和可靠性

Boulay, Christophe; Delmont, Emilien; Audic, Frédérique; Halbert, Cécile; Pesenti, Sébastien; Chabrol, Brigitte; Desnous, Béatrice; Attarian, Shahram

High Risk of Anxiety and Depression in Women With Different Types of Pregnancy Complications in France: A Cross-Sectional Study

法国不同类型妊娠并发症女性焦虑和抑郁风险较高:一项横断面研究

Wendland, Jaqueline; Ribeiro, Camila Teixeira; Audic, Mélina; Letot, Jessica; Ahmadi, Shukrullah

Neuroinflammation as a cause of differential Müller cell regenerative responses to retinal injury

神经炎症是导致视网膜损伤后穆勒细胞再生反应不同的原因

Diana García-García, Lorena Vidal-Gil, Karine Parain, Jingxian Lun, Yann Audic, Albert Chesneau, Léa Siron, Demi Van Westendorp, Sophie Lourdel, Xavier Sánchez-Sáez, Despoina Kazani, Julien Ricard, Solène Pottin, Alicia Donval, Odile Bronchain, Morgane Locker, Jérôme E Roger, Caroline Borday, Patric

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

在脊髓性肌萎缩症1型患者中,onasemnogene abeparvovec单药治疗的真实世界多学科疗效:法国队列在治疗前三年的经验

Desguerre, Isabelle; Barrois, Rémi; Audic, Frédérique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; Gomez-Garcia de la Banda, Marta; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Pervillé, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Hervé; Trommsdorff, Valérie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cécilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude

Elucidation of the structural basis for ligand binding and translocation in conserved insect odorant receptor co-receptors

阐明保守的昆虫嗅觉受体共受体中配体结合和易位的结构基础

Jody Pacalon #, Guillaume Audic #, Justine Magnat, Manon Philip, Jérôme Golebiowski, Christophe J Moreau, Jérémie Topin