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

Desmin Modulates Muscle Cell Adhesion and Migration

结蛋白调节肌细胞粘附和迁移

Coralie Hakibilen, Florence Delort, Marie-Thérèse Daher, Pierre Joanne, Eva Cabet, Olivier Cardoso, Fany Bourgois-Rocha, Cuixia Tian, Eloy Rivas, Marcos Madruga, Ana Ferreiro, Alain Lilienbaum, Patrick Vicart, Onnik Agbulut, Sylvie Hénon, Sabrina Batonnet-Pichon

Perturbed Microbiota/Immune Homeostasis in Multiple Sclerosis

多发性硬化症中的微生物群/免疫稳态紊乱

Sterlin, Delphine; Larsen, Martin; Fadlallah, Jehane; Parizot, Christophe; Vignes, Marina; Autaa, Gaëlle; Dorgham, Karim; Juste, Catherine; Lepage, Patricia; Aboab, Jennifer; Vicart, Savine; Maillart, Elisabeth; Gout, Olivier; Lubetzki, Catherine; Deschamps, Romain; Papeix, Caroline; Gorochov, Guy

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

一项法国多中心横断面研究,探讨了 COVID-19 对神经肌肉疾病的影响

Pisella, Lucie Isoline; Fernandes, Sara; Solé, Guilhem; Stojkovic, Tanya; Tard, Céline; Chanson, Jean-Baptiste; Bouhour, Françoise; Salort-Campana, Emmanuelle; Beaudonnet, Guillemette; Debergé, Louise; Duval, Fanny; Grapperon, Aude-Marie; Masingue, Marion; Nadaj-Pakleza, Aleksandra; Péréon, Yann; Audic, Frédérique; Behin, Anthony; Friedman, Diane; Magot, Armelle; Noury, Jean-Baptiste; Souvannanorath, Sarah; Wahbi, Karim; Antoine, Jean-Christophe; Bigaut, Kévin; Camdessanché, Jean-Philippe; Cintas, Pascal; Debs, Rabab; Espil-Taris, Caroline; Kremer, Laurent; Kuntzer, Thierry; Laforêt, Pascal; Laugel, Vincent; Mallaret, Martial; Michaud, Maud; Nollet, Sylvain; Svahn, Juliette; Vicart, Savine; Villar-Quiles, Rocio Nur; Desguerre, Isabelle; Adams, David; Segovia-Kueny, Sandrine; Merret, Géraldine; Hammouda, Elhadi; Molon, Annamaria; Attarian, Shahram

Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine

骨骼肌离子通道病靶向治疗:系统评价及迈向精准医学的步骤

Desaphy, Jean-François; Altamura, Concetta; Vicart, Savine; Fontaine, Bertrand

E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

电子健康与创新助力克服神经肌肉疾病的障碍。第一届电子神经肌肉疾病大会报告:法国尼斯,2019年3月22-23日

Pini, Jonathan; Siciliano, Gabriele; Lahaut, Pauline; Braun, Serge; Segovia-Kueny, Sandrine; Kole, Anna; Hérnando, Ines; Selb, Julij; Schirinzi, Erika; Duong, Tina; Hogrel, Jean-Yves; Olmedo, José Javier Serrano; Vissing, John; Servais, Laurent; Vincent-Genod, Dominique; Vuillerot, Carole; Bannwarth, Sylvie; Eggenspieler, Damien; Vicart, Savine; Diaz-Manera, Jordi; Lochmüller, Hanns; Sacconi, Sabrina

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients

布罗迪病的临床、形态学和遗传学特征:针对 40 名患者的国际研究

Joery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, Erik J Kamsteeg, Corrie E Erasmus, Savine Vicart, Anthony Behin, Guillaume Bassez, Armelle Magot, Yann Péréon, Barbara W Brandom, Valeria Guglielmi, Gaetano Vattemi, Frédéric Chevessier, Jean Mathieu, Jérôme Franques, Karen Suetterlin, Michae

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor

低钾性周期性麻痹伴电压传感器中电荷保留替代

Kubota, Tomoya; Wu, Fenfen; Vicart, Savine; Nakaza, Maki; Sternberg, Damien; Watanabe, Daisuke; Furuta, Mitsuru; Kokunai, Yosuke; Abe, Tatsuya; Kokubun, Norito; Fontaine, Bertrand; Cannon, Stephen C; Takahashi, Masanori P

Guidelines on clinical presentation and management of nondystrophic myotonias

非营养不良性肌强直的临床表现和治疗指南

Stunnenberg, Bas C; LoRusso, Samantha; Arnold, W David; Barohn, Richard J; Cannon, Stephen C; Fontaine, Bertrand; Griggs, Robert C; Hanna, Michael G; Matthews, Emma; Meola, Giovanni; Sansone, Valeria A; Trivedi, Jaya R; van Engelen, Baziel G M; Vicart, Savine; Statland, Jeffrey M

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Nav1.4 DIS3 中的 A204E 突变产生功能获得和丧失效应,导致周期性麻痹,并伴有高钾血症和低钾血症症状

Yosuke Kokunai, Carine Dalle, Savine Vicart, Damien Sternberg, Valérie Pouliot, Said Bendahhou, Emmanuel Fournier, Mohamed Chahine, Bertrand Fontaine, Sophie Nicole

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

NaV1.4 中 S4DIV R2 残基 (R1451) 的替换会导致复杂形式的先天性副肌强直和周期性麻痹

Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine