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

French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice

法国国家钙质沉着症诊断和治疗方案(LGMD R1/LGMD D4):临床实践共识指南

Severa, Gianmarco; Souvannanorath, Sarah; Tahiri, Iman; Alimi, Christophe; Slioui, Abderhmane; Villa, Luisa; Salort-Campana, Emmanuelle; Leturcq, France; Streichenberger, Nathalie; Krahn, Martin; Solé, Guilhem; Feasson, Léonard; Nadaj-Pakleza, Aleksandra; Tard, Celine; Stojkovic, Tanya; Sacconi, Sabrina; Malfatti, Edoardo

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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

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

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study

X连锁夏科-马里-图斯病表型-基因型相关性:一项法国队列研究

Barbat du Closel, Luce; Bonello-Palot, Nathalie; Delmont, Emilien; Péréon, Yann; Echaniz-Laguna, Andoni; Camdessanché, Jean Philippe; Pakleza, Aleksandra Nadaj; Chanson, Jean-Baptiste; Frachet, Simon; Magy, Laurent; Cassereau, Julien; Cintas, Pascal; Choumert, Ariane; Devic, Perrine; Louis, Sarah Léonard; Tard, Céline; Solé, Guilhem; Salort-Campana, Emmanuelle; Bouhour, Françoise; Latour, Philippe; Stojkovic, Tanya; Attarian, Shahram

Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR)

罕见神经肌肉疾病患者的诊断困境和迷茫:来自法国国家罕见神经肌肉疾病网络(FILNEMUS)和法国国家罕见病数据库(BNDMR)的患者特征见解

Dumas, Rémy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Céline; Sacconi, Sabrina; Bouhour, Françoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Léonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cécile; Cintas, Pascal; Stojkovic, Tanya; Solé, Guilhem; Attarian, Shahram

Causes of Death and Comorbidities in Adult Patients With Late-Onset Pompe Disease: A French Pompe Registry Retrospective Study

法国庞贝病登记处回顾性研究:成年晚发型庞贝病患者的死亡原因和合并症

Chitimus, Diana Maria; Tard, Céline; Fournier, Maxime; Bouhour, Françoise; Béhin, Anthony; Salort-Campana, Emmanuelle; Lagrange, Emmeline; Kaminsky, Anne-Laure; Magot, Armelle; Beltran, Stéphane; Noury, Jean-Baptiste; Magy, Laurent; Solé, Guilhem; Renard, Dimitri; Spinazzi, Marco; Demurger, Florence; Cintas, Pascal; Nadaj-Pakleza, Aleksandra; Deibener-Kaminsky, Joelle; Bassez, Guillaume; Taouagh, Nadjib; Arrassi, Azzedine; Lefeuvre, Claire; Attarian, Sharam; Hamroun, Dalil; Laforêt, Pascal

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

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

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