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

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies

重症肌无力患者若存在I型干扰素自身抗体,则发生低氧性COVID-19肺炎的风险较高

Gervais, Adrian; Marchal, Astrid; Maillard, Alexis; Le Voyer, Tom; Rosain, Jérémie; Philipot, Quentin; Bizien, Lucy; Peel, Jessica; Cederholm, Axel; Migaud, Mélanie; Pons, Sylvie; Saker, Kahina; Laforet, Pascal; Aubart, Mélodie; Gitiaux, Cyril; Biggs, Catherine; Leon Lopez, Rafael; Souvannanorath, Sarah; Tard, Céline; Nadaj Pakleza, Aleksandra; Grapperon, Aude-Marie; Heming, Nicholas; Annane, Djillali; Verschueren, Annie; Attarian, Shahram; Bigaut, Kévin; Hankiewicz, Karolina; Kouton, Ludivine; Villar-Quiles, Rocio-Nur; Cauquil, Cécile; Fleury, Marie-Céline; Rocher, Emilie; Nicolas, Guillaume; de Paula Estephan, Eduardo; da Penha Ananias Morita, Maria; Zanoteli, Edmar; Saied, Zakaria; Rachdi, Amine; Rim, Amouri; Belal, Samir; Ben Sassi, Samia; Hübers, Annemarie; Faure, Emmanuel; Desguerre, Isabelle; Basse, Clémence; Girard, Nicolas; Béziat, Vivien; Pan-Hammarström, Qiang; Hammarström, Lennart; Bodansky, Aaron; Parent, Audrey V; Anderson, Mark S; DeRisi, Joseph L; Demeret, Sophie; Truffault, Frédérique; Fort, Romain; Ader, Florence; Wallet, Florent; Abel, Laurent; Molina, Thierry; Alyanakian, Marie-Alexandra; Le Panse, Rozen; Solé, Guilhem; Cobat, Aurélie; Landegren, Nils; Casanova, Jean-Laurent; Puel, Anne; Bastard, Paul; Jouanguy, Emmanuelle

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

MYH7相关肌病:法国多中心队列研究中的临床、肌病理学和基因型谱

Bahout, Marie; Severa, Gianmarco; Kamoun, Emna; Bouhour, Françoise; Pegat, Antoine; Toutain, Annick; Lagrange, Emmeline; Duval, Fanny; Tard, Celine; De la Cruz, Elisa; Féasson, Léonard; Jacquin-Piques, Agnès; Richard, Pascale; Métay, Corinne; Cavalli, Michele; Romero, Norma Beatriz; Evangelista, Teresinha; Sole, Guilhem; Carlier, Robert Yves; Laforêt, Pascal; Acket, Blandine; Behin, Anthony; Fernández-Eulate, Gorka; Léonard-Louis, Sarah; Quijano-Roy, Susana; Pereon, Yann; Salort-Campana, Emmanuelle; Nadaj-Pakleza, Aleksandra; Masingue, Marion; Malfatti, Edoardo; Stojkovic, Tanya; Villar-Quiles, Rocío Nur

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy

含缬氨酸蛋白多系统蛋白病的肌肉活检结果

Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G; Thal, Dietmar Rudolf; Bevilacqua, Jorge A; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A; Kushlaf, Hani; Lloyd, Thomas E; Ikenaga, Chiseko; Alfano, Lindsay N; Quinn, Colin C; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

成人先天性重症肌无力综合征:临床特征、诊断和长期预后

Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frédéric; Pegat, Antoine; Bouhour, Françoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Véronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanché, Jean-Philippe; Tard, Céline; Magot, Armelle; Péréon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Solé, Guilhem; Spinazzi, Marco; Esselin, Florence; Renard, Dimitri; Sacconi, Sabrina; Ezaru, Andra; Malfatti, Edoardo; Mallaret, Martial; Magy, Laurent; Diab, Eva; Merle, Philippe; Michaud, Maud; Fournier, Maxime; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Lefeuvre, Claire; Laforet, Pascal; Richard, Pascale; Sternberg, Damien; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Eymard, Bruno

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

更正:对大量VCP介导疾病患者进行肌肉磁共振成像分析,揭示了有助于诊断的特征。

Esteller, Diana; Schiava, Marianela; Verdú-Díaz, José; Villar-Quiles, Rocío-Nur; Dibowski, Boris; Venturelli, Nadia; Laforet, Pascal; Alonso-Pérez, Jorge; Olive, Montse; Domínguez-González, Cristina; Paradas, Carmen; Vélez, Beatriz; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Rodolico, Carmelo; Claeys, Kristl; Pál, Endre; Malfatti, Edoardo; Souvannanorath, Sarah; Alonso-Jiménez, Alicia; de Ridder, Willem; De Smet, Eline; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sofia; Luo, Sushan; Muelas, Nuria; Vilchez, Juan J; Ramos-Fransi, Alba; Monforte, Mauro; Tasca, Giorgio; Udd, Bjarne; Palmio, Johanna; Sri, Srtuhi; Krause, Sabine; Schoser, Benedikt; Fernández-Torrón, Roberto; López de Munain, Adolfo; Pegoraro, Elena; Farrugia, Maria Elena; Vorgerd, Mathias; Manousakis, Georgious; Chanson, Jean Baptiste; Nadaj-Pakleza, Aleksandra; Cetin, Hakan; Badrising, Umesh; Warman-Chardon, Jodi; Bevilacqua, Jorge; Earle, Nicholas; Campero, Mario; Díaz, Jorge; Ikenaga, Chiseko; Lloyd, Thomas E; Nishino, Ichizo; Nishimori, Yukako; Saito, Yoshihiko; Oya, Yasushi; Takahashi, Yoshiaki; Nishikawa, Atsuko; Sasaki, Ryo; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Stojkovic, Tanya; Carlier, Robert Y; Díaz-Manera, Jordi

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

对大量VCP介导疾病患者的肌肉磁共振成像分析揭示了有助于诊断的特征。

Esteller, Diana; Schiava, Marianela; Verdú-Díaz, José; Villar-Quiles, Rocío-Nur; Dibowski, Boris; Venturelli, Nadia; Laforet, Pascal; Alonso-Pérez, Jorge; Olive, Montse; Domínguez-González, Cristina; Paradas, Carmen; Vélez, Beatriz; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Rodolico, Carmelo; Claeys, Kristl; Pál, Endre; Malfatti, Edoardo; Souvannanorath, Sarah; Alonso-Jiménez, Alicia; de Ridder, Willem; De Smet, Eline; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sofia; Luo, Sushan; Muelas, Nuria; Vilchez, Juan J; Ramos-Fransi, Alba; Monforte, Mauro; Tasca, Giorgio; Udd, Bjarne; Palmio, Johanna; Sri, Srtuhi; Krause, Sabine; Schoser, Benedikt; Fernández-Torrón, Roberto; López de Munain, Adolfo; Pegoraro, Elena; Farrugia, Maria Elena; Vorgerd, Mathias; Manousakis, Georgious; Chanson, Jean Baptiste; Nadaj-Pakleza, Aleksandra; Cetin, Hakan; Badrising, Umesh; Warman-Chardon, Jodi; Bevilacqua, Jorge; Earle, Nicholas; Campero, Mario; Díaz, Jorge; Ikenaga, Chiseko; Lloyd, Thomas E; Nishino, Ichizo; Nishimori, Yukako; Saito, Yoshihiko; Oya, Yasushi; Takahashi, Yoshiaki; Nishikawa, Atsuko; Sasaki, Ryo; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Stojkovic, Tanya; Carlier, Robert Y; Díaz-Manera, Jordi

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy

VCP相关多系统蛋白病肌病管理的临时实践建议

Roy, Bhaskar; Peck, Allison; Evangelista, Teresinha; Pfeffer, Gerald; Wang, Leo; Diaz-Manera, Jordi; Korb, Manisha; Wicklund, Matthew P; Milone, Margherita; Freimer, Miriam; Kushlaf, Hani; Villar-Quiles, Rocio-Nur; Stojkovic, Tanya; Needham, Merrilee; Palmio, Johanna; Lloyd, Thomas E; Keung, Benison; Mozaffar, Tahseen; Weihl, Conrad Chris; Kimonis, Virginia

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

与多系统蛋白病相关的含缬氨酸蛋白基因变异的临床分类

Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Ávila, Marta; Chou, Tsui-Fen; Li, Shan; Wang, Feng; Daw, Jil; Stojkovic, Tanya; Villar-Quiles, Rocio; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Katsuno, Masahisa; Noda, Seiya; Ito, Chihiro; Otsuka, Mieko; Nahir, Sruthi; Manousakis, Georgios; Walk, David; Quinn, Colin; Alfano, Lindsay; Sahenk, Zarife; Tasca, Giorgio; Monforte, Mauro; Sabatelli, Mario; Bisogni, Giulia; Oldfors, Anders; Rydeliu, Anna; Pal, Endre; Paradas, Carmen; Velez, Beatriz; De Bleecker, Jan L; Farugia, Maria Elena; Longman, Cheryl; Harms, Matthew B; Ralston, Stuart; Zanoteli, Edmar; Macedo Serafim da Silva, Andre; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

含缬酪氨酸蛋白疾病的基因型-表型相关性:一项回顾性多中心研究

Marianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, Marta Caballero-Ávila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nad

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

SEPN1相关肌病中内质网-线粒体接触和生物能量学的缺陷

Filipe, Anne; Chernorudskiy, Alexander; Arbogast, Sandrine; Varone, Ersilia; Villar-Quiles, Rocío-Nur; Pozzer, Diego; Moulin, Maryline; Fumagalli, Stefano; Cabet, Eva; Dudhal, Swati; De Simoni, Maria-Grazia; Denis, Raphaël; Vadrot, Nathalie; Dill, Corinne; Giovarelli, Matteo; Szweda, Luke; De Palma, Clara; Pinton, Paolo; Giorgi, Carlotta; Viscomi, Carlo; Clementi, Emilio; Missiroli, Sonia; Boncompagni, Simona; Zito, Ester; Ferreiro, Ana