未登录 分享 收藏
分享 收藏
分享 收藏
EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia Kyriakides, T.; Aleksovska, K.; Angelini, C.; Argov, Z.; Claeys, K.G.; de Visser, M.; FIlosto, M.; Jovanovic, I.; Kostera-Pruszczyk, A.; Molnar, M.J.; et al. EAN 2024关于寡/无症状高肌酸激酶血症诊断方法的指南。Eur. J. Neurol. 2026, 33, e70493. [Google Scholar] [CrossRef] [PubMed] T. Kyriakides; K. Aleksovska; C. Angelini; Z. Argov; K. G. Claeys; M. de Visser; M. FIlosto; I. Jovanovic; A. Kostera-Pruszczyk; M. J. Molnar; S. Sacconi; J. Schaefer; G. Siciliano; J. J. Vilchez; B. Schoser; A. Toscano 分享 收藏
分享 收藏
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe BAG3相关神经肌肉疾病在欧洲患者中的疾病谱及长期预后。Brain A J. Neurology, awaf223 Fernandez-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Moris, German; Gallardo, Eduard; Olive, Montse; De Fuenmayor-fernandez 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, Frederic; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Dominguez-Gonzalez, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya 分享 收藏
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe Sian, Veronica; Di Feo, Maria Francesca; Kurbatov, Sergei; Vihola, Anna; Luque, Helena; Konovalov, Fedor; Peric, Stojan; Duffy, Cathrina; Kornblum, Cornelia; Claeys, Kristl G.; Hackman, Peter; Udd, Bjarne; Savarese, Marco 分享 收藏
分享 收藏
分享 收藏
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 由于SORD基因突变导致的Charcot-Marie-Tooth疾病的基因型与表型谱 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; Laura, 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; Schone, 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, Hulya; 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.; Lee, Yi-Chung; Basak, Ayse 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.; Zuchner, Stephan 分享 收藏
分享 收藏
分享 收藏
ADAPT NXT: Fixed Cycles or Every-Other-Week IV Efgartigimod in Generalized Myasthenia Gravis 适应NXT: 固定周期或每隔一周静脉注射Efgartigimod治疗全身性重症肌无力 Habib, Ali A.; Claeys, Kristl G.; Bril, Vera; Hussain, Yessar; Gwathmey, Kelly; Sahagian, Gregory; Cortes-Vicente, Elena; Brauer, Edward; Gelinas, Deborah; Sumbul, Anne; Jimenez, Rosa H.; Hristova, Daniela; Masschaele, Delphine; Mantegazza, Renato; Meisel, Andreas; Attarian, Shahram 分享 收藏
Clinically important improvements in 6-min walk distance (6MWD) and forced vital capacity (FVC) in adults with late- onset Pompe disease (LOPD) switching from alglucosidase alfa (alg) to cipaglucosidase alfa plus miglustat (cipa plus mig) in the PROPEL study Schoser, Benedikt; Kushlaf, Hani; Wenninger, Stephan; Hummel, Noemi; Clarke, Sophie; Crabtree, Matthew; Fox, Brian; Gloeckner, Birgit; Holdbrook, Fred; Jain, Vipul; Peceny, Markus; Claeys, Kristl G. 分享 收藏
分享 收藏
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients Smeets, Nathalie; Gheldof, Alexander; Dequeker, Bart; Poleur, Margaux; Slootjes, Sofia Maldonado; Van Parijs, Vinciane; Deconinck, Nicolas; Dontaine, Pauline; Alonso-Jimenez, Alicia; De Bleecker, Jan; De Ridder, Willem; Herdewyn, Sarah; Paquay, Stephanie; Vanlander, Arnaud; De Waele, Liesbeth; Peirens, Geertrui; Beysen, Diane; Claeys, Kristl G.; Dubuisson, Nicolas; Hansen, Isabelle; Remiche, Gauthier; Seneca, Sara; Bissay, Veronique; Regal, Luc 分享 收藏
Anti-Ku plus myositis: an acquired inflammatory protein-aggregate myopathy Holzer, Marie-Therese; Uruha, Akinori; Roos, Andreas; Hentschel, Andreas; Schaenzer, Anne; Weis, Joachim; Claeys, Kristl G.; Schoser, Benedikt; Montagnese, Federica; Goebel, Hans-Hilmar; Huber, Melanie; Leonard-Louis, Sarah; Koetter, Ina; Streichenberger, Nathalie; Gallay, Laure; Benveniste, Olivier; Schneider, Udo; Preusse, Corinna; Krusche, Martin; Stenzel, Werner 分享 收藏
分享 收藏
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease Claeys, Kristl G.; Kushlaf, Hani; Raza, Syed; Hummel, Noemi; Shohet, Simon; Keyzor, Ian; Kopiec, Agnieszka; Graham, Ryan; Fox, Brian; Schoser, Benedikt 分享 收藏
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A Xu, Isaac R. L.; Danzi, Matt C.; Ruiz, Ariel; Raposo, Jacquelyn; De Jesus, Yeisha Arcia; Reilly, Mary M.; Cortese, Andrea; Shy, Michael E.; Scherer, Steven S.; Herrmann, David N.; Fridman, Vera; Baets, Jonathan; Saporta, Mario; Seyedsadjadi, Reza; Stojkovic, Tanya; Claeys, Kristl G.; Patel, Pooja; Feely, Shawna; Rebelo, Adriana P.; Dohrn, Maike F.; Zuchner, Stephan 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png)
OAAI
.png){kind=icon}
分享.png){kind=icon}
收藏