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Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses 白细胞介素‐6作为面肩肱肌营养不良症的关键生物标志物:纵向分析的证据 Pini, Jonathan; Martinuzzi, Emanuela; Dhifallah, Sandra; Slioui, Abderhmane; Puma, Angela; Villa, Luisa; Cavalli, Michele; Ezaru, Andra; Garcia, Jeremy; Gambella, Manuela; Torre, Federico; Pavan, Luca Jacopo; Glaichenhaus, Nicolas; Sacconi, Sabrina 分享 收藏
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与诊断延迟:来自法国罕见神经肌肉疾病国家网络(FILNEMUS)和法国国家罕见病数据库(BNDMR)的患者特征洞察 Dumas, Remy; Jannot, Anne-Sophie; Elarouci, Nabila; Salort-Campana, Emmanuelle; Pisella, Lucie; Tard, Celine; Sacconi, Sabrina; Bouhour, Francoise; Sarrazin, Elisabeth; Spinazzi, Marco; Laforet, Pascal; Pereon, Yann; Nadaj-Pakleza, Aleksandra; Echaniz-Laguna, Andoni; Choumert, Ariane; Magy, Laurent; Feasson, Leonard; Esselin, Florence; Cances, Claude; Espile, Caroline; Desguerre, Isabelle; Rouzier, Cecile; Cintas, Pascal; Stojkovic, Tanya; Sole, Guilhem; Attarian, Shahram; FILNEMUS Study Grp 分享 收藏
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Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients Severa, Gianmarco; Bastu, Sultan; Borin, Giovanni Umberto; Decrouy, Xavier; Codina, Anna; Kefi, Kaouthar; Periou, Baptiste; Nadaj-Pakleza, Aleksandra; Lannes, Beatrice; Sacconi, Sabrina; Maurage, Claude-Alain; Tard, Celine; Jou, Cristina; Osorio, Andres Nascimiento; Taglietti, Valentina; Malfatti, Edoardo 分享 收藏
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Safety and efficacy of chronic weekly rozanolixizumab in generalized myasthenia gravis: the randomized open-label extension MG0004 study 慢性每周罗沙尼利单抗在全身型重症肌无力中的安全性与有效性:随机开放标签扩展MG0004研究 Bril, Vera; Druzdz, Artur; Grosskreutz, Julian; Habib, Ali A.; Kaminski, Henry J.; Mantegazza, Renato; Sacconi, Sabrina; Utsugisawa, Kimiaki; Vu, Tuan; Boehnlein, Marion; Gayfieva, Maryam; Greve, Bernhard; Woltering, Franz; Vissing, John 分享 收藏
Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data Slioui, Abderhmane; Tammam, Giulia; Vanoli, Fiammetta; Della Marina, Adela; Vohanka, Stanislav; Gilhus, Nils Erik; Moroni, Isabella; Leite, Maria Isabel; Piehl, Fredrik; Antozzi, Carlo; Pini, Jonathan; Stascheit, Frauke; Attarian, Shahram; Santos, Ernestina; Verschuuren, Jan; Canonge, Lou; Garcia, Jeremy; Perriard, Caroline; Cortes-Vicente, Elena; Mantegazza, Renato; Meisel, Andreas; Sacconi, Sabrina 分享 收藏
Long-term safety of cyclical rozanolixizumab in patients with generalized myasthenia gravis: Results from the Phase 3 MycarinG study and an open-label extension 周期性罗赞诺利珠单抗在全身型重症肌无力患者中的长期安全性:来自3期MycarinG研究及开放标签扩展研究的结果 Habib, Ali A.; Druzdz, Artur; Grosskreutz, Julian; Mantegazza, Renato; Sacconi, Sabrina; Utsugisawa, Kimiaki; Vu, Tuan; Vissing, John; Gayfieva, Maryam; Pulido-Valdeolivas, Irene; Tarancon, Thais; Woltering, Franz; Bril, Vera 分享 收藏
Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy 面肩肱型肌营养不良症中可达工作空间的力量和功能相关性 Wang, Leo H.; Hatch, Maya N.; Mcdermott, Michael P.; Martens, William B.; Eichinger, Katy; Lewis, Leann; Walker, Michaela; Leung, Doris G.; Wagner, Kathryn R.; Sacconi, Sabrina; Mul, Karlien; Shieh, Perry B.; Elsheikh, Bakri; Butterfield, Russell J.; Johnson, Nicholas E.; Sansone, Valeria; Han, Jay J.; Tawil, Rabi; Statland, Jeffrey M.; ReSolve Investigators FSHD CTRN 分享 收藏
Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I Puma, Angela; Tammam, Giulia; Ezaru, Andra; Slioui, Abderhmane; Torchia, Eleonora; Tasca, Giorgio; Villa, Luisa; Cavalli, Michele; Salviati, Leonardo; van der Vliet, Patrick J.; Lemmers, Richard J. L. F.; Pini, Jonathan; van der Maarel, Silvere M.; Sacconi, Sabrina 分享 收藏
Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis 包涵体肌炎中针对线粒体呼吸链复合物I亚基的自身抗体 Notarnicola, Antonella; Hellstrom, Ceke; Horuluoglu, Begum; Pin, Elisa; Preger, Charlotta; Bonomi, Francesco; De Paepe, Boel; De Bleecker, Jan L.; van der Kooi, Anneke J.; De Visser, Marianne; Sacconi, Sabrina; Machado, Pedro; Badrising, Umesh A.; Rietveld, Anke; Pruijn, Ger; Rothwell, Simon; Lilleker, James B.; Chinoy, Hector; Benveniste, Olivier; Svenungsson, Elisabet; Idborg, Helena; Jakobsson, Per-Johan; Nilsson, Peter; Lundberg, Ingrid E. 分享 收藏
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Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis Theuriet, Julian; Masingue, Marion; Behin, Anthony; Ferreiro, Ana; Bassez, Guillaume; Jaubert, Pauline; Tarabay, Oriana; Fer, Frederic; Pegat, Antoine; Bouhour, Francoise; Svahn, Juliette; Petiot, Philippe; Jomir, Laurentiu; Chauplannaz, Guy; Cornut-Chauvinc, Catherine; Manel, Veronique; Salort-Campana, Emmanuelle; Attarian, Shahram; Fortanier, Etienne; Verschueren, Annie; Kouton, Ludivine; Camdessanche, Jean-Philippe; Tard, Celine; Magot, Armelle; Pereon, Yann; Noury, Jean-Baptiste; Minot-Myhie, Marie-Christine; Perie, Maud; Taithe, Frederic; Farhat, Yacine; Millet, Anne-Laure; Cintas, Pascal; Sole, 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 分享 收藏
Typical CIDP, distal variant CIDP, and anti-MAG antibody neuropathy: An ultra-high frequency ultrasound comparison of nerve structure Puma, Angela; Grecu, Nicolae; Badea, Raluca S.; Morisot, Adeline; Zugravu, Roxana; Ioncea, Mihai B.; Cavalli, Michele; Lacatus, Oana; Ezaru, Andra; Hacina, Chorfa; Villa, Luisa; Raffaelli, Charles; Azulay, Nicolas; Sacconi, Sabrina 分享 收藏