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收藏Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic MyopathySRPK3/TTN双基因肌病的早期临床、影像及病理特征
Orbach, Rotem; Donkervoort, Sandra; Hedberg-Oldfors, Carola; Baranello, Giovanni; Saade, Dimah; D'Souza, Precilla; Patel, Ruchee; Michael, Eva; Foley, A. Reghan; Bharucha-Goebel, Diana; Haugland, S. Jin; McAnally, Meghan; Hamid, Omer Abdul; Chao, Katherine; Macnamara, Ellen F.; Beggs, Alan H.; Sarkozy, Anna; Mueller, Juliane; Moore, Steven A.; Finkel, Richard S.; Tifft, Cynthia J.; Muntoni, Francesco; Oldfors, Anders; Bonnemann, Carsten G.
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收藏Histopathological Evaluation of Somatostatin Receptor 2 Expression in Myocarditis-Rationale for the Diagnostic Use of Somatostatin Receptor Imaging
Polte, Christian L.; Visuttijai, Kittichate; Vukusic, Kristina; Sandstedt, Joakim; Sandstedt, Mikael; Bobbio, Emanuele; Bjorkenstam, Marie; Karason, Kristjan; Bergh, Niklas; Bollano, Entela; Oldfors, Anders
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收藏Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Carrington, Glenn; Hau, Abbi; Kosta, Sarah; Dugdale, Hannah F.; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter; Romero, Norma B.; Malfatti, Edoardo; Vilchez, Juan Jesus; Oldfors, Anders; Pajusalu, Sander; Ounap, Katrin; Giralt-Pujol, Marta; Zanoteli, Edmar; Campbell, Kenneth S.; Iwamoto, Hiroyuki; Peckham, Michelle; Ochala, Julien
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收藏Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Schiava, Marianela; Ikenaga, Chiseko; Topf, Ana; Caballero-Avila, 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; da Silva, Andre Macedo Serafim; Sotoca, Javier; Juntas-Morales, Raul; Bevilacqua, Jorge; Balart, Mireya; Talbot, Stuart; Straub, Volker; Guglieri, Michela; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Weihl, Conrad Chris
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收藏Subtyping of cardiac amyloidosis by mass spectrometry-based proteomics of endomyocardial biopsies通过基于质谱的心内膜活检的蛋白质组学对心脏淀粉样变性进行亚型分型
Noborn, Fredrik; Thomsen, Christer; Vorontsov, Egor; Bobbio, Emanuele; Sihlbom, Carina; Nilsson, Jonas; Polte, Christian L.; Bollano, Entela; Vukusic, Kristina; Sandstedt, Joakim; Dellgren, Goran; Karason, Kristjan; Oldfors, Anders; Larson, Goran
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收藏Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
Schiava, Marianela; Ikenaga, Chiseko; Villar-Quiles, Rocio Nur; Caballero-Avila, Marta; Topf, Ana; Nishino, Ichizo; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt; Zanoteli, Edmar; Sgobbi Souza, Paulo Victor; Tasca, Giorgio; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jimenez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong; Bevilacqua, Jorge Alfredo; Olive, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Dominguez-Gonzalez, Cristina; Papadimas, George K.; Warman, Jodi; Claeys, Kristl G.; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N.; Nair, Sruthi S.; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan; Garcia-Garcia, Jorge; Pal, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad; Diaz-Manera, Jordi
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