未登录 UK SMA patient registry: a 3-year patient-reported outcome measures study supporting the drug appraisal of Nusinersen and Risdiplam in spinal muscular atrophy 英国SMA患者登记系统：一项为期3年的患者报告结局测量研究，支持nusinersen和risdiplam在脊髓性肌萎缩症中的药物评估 Carver, Aleks; Page, Jess; Murphy, Lindsay; Karkkainen, Elena; Muni-Lofra, Robert; Benesperi, Grecia; Moat, Dionne; Tanner, Stephanie; Simms, Laura; Adcock, Kate; Farrugia, Maria Elena; Ilyashenko, Gennadiy; Lilleker, James B.; McConville, John; Merrison, Andria; Parton, Matthew; Thorman, Portia; Baranello, Giovanni; Rohwer, Annemarie; Ryburn, Liz; Thornton, Andi; Childs, Anne-Marie; Hewamadduma, Channa; Galtrey, Clare M.; Muntoni, Francesco; Scoto, Mariacristina; Marini-Bettolo, Chiara 分享 收藏
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Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland 迟发性类多酰基辅酶A脱氢酶缺乏症：来自苏格兰西部的病例系列 Watson-Fargie, Taylor; Coomber, Autumn; Edwards, Rachel; Barr, Marianne; Brennan, Kathryn; Fletcher, Elaine; Miller-Hodges, Eve; O'Sullivan, Dawn; Stewart, Kirsty; Hopton, Sila; He, Langping; Alston, Charlotte L.; Taylor, Robert W.; Straub, Volker; Topf, Ana; Stewart, William; Longman, Cheryl; Farrugia, Maria E. 分享 收藏
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Efgartigimod efficacy and safety in refractory myasthenia gravis: UK's first real-world experience Efgartigimod在难治性重症肌无力中的疗效和安全性: 英国的第一个真实世界经验 Dionisio, Joana Moniz; Ambrose, Philip; Burke, Georgina; Farrugia, Maria Elena; Garcia-Reitboeck, Pablo; Hewamadduma, Channa; Hill, Marguerite; Howard, Robin S.; Jacob, Saiju; Kullmann, Dimitri; Leite, Maria Isabel; Miller, James; Pinto, Ashwin; Pritchard, Jane; Riswick, Thomas; Sathasivam, Sivakumar; Thambirajah, Narmathey; Viegas, Stuart; Norwood, Fiona; Spillane, Jennifer 分享 收藏
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The juvenile ECG pattern in adolescent athletes and non-athletes in a national cardiac screening program (BEAT-IT) Abela, Mark; Yamagata, Kentaro; Buttigieg, Lisa; Xuereb, Sara; Bonello, John; Soler, Jeremy Fleri; Camilleri, William; Grech, Neil; Xuereb, Rachel; Sapiano, Karl; Abela, Estelle; Callus, Adrian; Farrugia, Maria; Felice, Tiziana; Burg, Melanie; Sammut, Mark; Xuereb, Robert G.; Grech, Victor 分享 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 分享 收藏
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum Mroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace 分享 收藏
Forecasting stroke-like episodes and outcomes in mitochondrial disease 预测线粒体疾病的卒中样发作和结局 Ng, Yi Shiau; Lax, Nichola Z.; Blain, Alasdair P.; Erskine, Daniel; Baker, Mark R.; Polvikoski, Tuomo; Thomas, Rhys H.; Morris, Christopher M.; Lai, Ming; Whittaker, Roger G.; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Blakely, Emma L.; Schaefer, Andrew M.; Turnbull, Doug M.; McFarland, Robert; Gorman, Grainne S. 分享 收藏
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity Vivekanandam, Vinojini; Mannikko, Roope; Skorupinska, Iwona; Germain, Louise; Gray, Belinda; Wedderburn, Sarah; Kozyra, Damian; Sud, Richa; James, Natalie; Holmes, Sarah; Savvatis, Konstantinos; Fialho, Doreen; Merve, Ashirwad; Pattni, Jatin; Farrugia, Maria; Behr, Elijah R.; Marini-Bettolo, Chiara; Hanna, Michael G.; Matthews, Emma 分享 收藏
Making sense of missense variants in TTN-related congenital myopathies 了解TTN相关先天性肌病的错义变异 Rees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, Rolf; Thiel, Christian; Reimann, Jens; Voermans, Nicol; Erasmus, Corrie; Kamsteeg, Erik-Jan; Konersman, Chaminda; Grosmann, Carla; McKee, Shane; Tirupathi, Sandya; Moore, Steven A.; Wilichowski, Ekkehard; Hobbiebrunken, Elke; Dekomien, Gabriele; Richard, Isabelle; Van den Bergh, Peter; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias 分享 收藏
Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats van der Plas, Ellen; Hamilton, Mark J.; Miller, Jacob N.; Koscik, Timothy R.; Long, Jeffrey D.; Cumming, Sarah; Povilaikaite, Julija; Farrugia, Maria Elena; McLean, John; Jampana, Ravi; Magnotta, Vincent A.; Gutmann, Laurie; Monckton, Darren G.; Nopoulos, Peggy C. 分享 收藏
Guidelines for single fiber EMG 单纤维肌电图指南 Sanders, Donald B.; Arimura, Kimiyoshi; Cui, LiYing; Ertas, Mustafa; Farrugia, Maria Elena; Gilchrist, James; Kouyoumdjian, Joao Aris; Padua, Luca; Pitt, Matthew; Stalberg, Erik 分享 收藏
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Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight Hamilton, Mark J.; McLean, John; Cumming, Sarah; Ballantyne, Bob; McGhie, Josephine; Jampana, Ravi; Longman, Cheryl; Evans, Jonathan J.; Monckton, Darren G.; Farrugia, Maria Elena 分享 收藏
De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1 Cumming, Sarah A.; Hamilton, Mark J.; Robb, Yvonne; Gregory, Helen; McWilliam, Catherine; Cooper, Anneli; Adam, Berit; McGhie, Josephine; Hamilton, Graham; Herzyk, Pawel; Tschannen, Michael R.; Worthey, Elizabeth; Petty, Richard; Ballantyne, Bob; Warner, Jon; Farrugia, Maria Elena; Longman, Cheryl; Monckton, Darren G. 分享 收藏
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy Sarkozy, Anna; Torelli, Silvia; Mein, Rachael; Henderson, Matt; Phadke, Rahul; Feng, Lucy; Sewry, Caroline; Ala, Pierpaolo; Yau, Michael; Bertoli, Marta; Willis, Tracey; Hammans, Simon; Manzur, Adnan; Sframeli, Maria; Norwood, Fiona; Rakowicz, Wojtek; Radunovic, Aleksandar; Vaidya, Sujit S.; Parton, Matt; Walker, Mark; Marino, Silvia; Offiah, Curtis; Farrugia, Maria Elena; Mamutse, Godwin; Marini-Bettolo, Chiara; Wraige, Elizabeth; Beeson, David; Lochmuller, Hanns; Straub, Volker; Bushby, Kate; Barresi, Rita; Muntoni, Francesco 分享 收藏
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