未登录 Quantitative Muscle Magnetic Resonance Outcomes in Patients With Duchenne Muscular Dystrophy An Exploratory Analysis From the EMBARK Randomized Clinical Trial 杜氏肌营养不良症患者定量肌肉磁共振结局：EMBARK随机临床试验的探索性分析 Vandenborne, Krista; Walter, Glenn A.; Straub, Volker; Willcocks, Rebecca J.; Forbes, Sean C.; Mercuri, Eugenio M.; Muntoni, Francesco; Ding, Kai; Ennamuri, Sravya; Reid, Carol; Murphy, Alexander P.; Manfrini, Marianna; Mendell, Jerry R.; Elkins, Jacob S.; Rodino-Klapac, Louise R. 分享 收藏
Preventing Cardiomyopathy in Duchenne Muscular Dystrophy: Long-Term Follow-Up of Patients in the Randomised, Placebo-Controlled Drug-Trial of Perindopril and Bisoprolol 预防杜氏肌营养不良症中的心肌病：培哚普利和比索洛尔随机、安慰剂对照药物试验中患者的长期随访 Bourke, John P.; Bryant, Andrew; Landon, Gregory; Burn, Alexis; Spinty, Stefan; Quinlivan, Ros; Alhaswani, Zoya; Chadwick, Thomas; Muntoni, Francesco; Guglieri, Michela 分享 收藏
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants Mccarty, Riley M.; Saade, Dimah; Munot, Pinki; Laverty, Chamindra G.; Pinz, Hailey; Zou, Yaqun; Mcanally, Meghan; Yun, Pomi; Tian, Cuixia; Hu, Ying; Feng, Lucy; Phadke, Rahul; Ceulemans, Sophia; Magoulas, Pilar; Skalsky, Andrew J.; Friedman, Jennifer R.; Braddock, Stephen R.; Neuhaus, Sarah B.; Malicki, Denise M.; Bainbridge, Matthew N.; Nahas, Shareef; Dimmock, David P.; Kingsmore, Stephen F.; Lotze, Timothy E.; Foley, A. Reghan; Muntoni, Francesco; Straub, Volker; Donkervoort, Sandra; Bonnemann, Carsten G. 分享 收藏
Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint Servais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Mar; Nascimento, Andres; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Melanie; Eggenspieler, Damien 分享 收藏
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza 分享 收藏
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker 分享 收藏
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy Taldefgrobep Alfa的临床开发: 一种抗肌生成抑制素Adnectin，用于治疗杜氏肌营养不良症 Muntoni, Francesco; Byrne, Barry J.; Mcmillan, Hugh J.; Ryan, Monique M.; Wong, Brenda L.; Dukart, Juergen; Bansal, Amita; Cosson, Valerie; Dreghici, Roxana; Guridi, Maitea; Rabbia, Michael; Staunton, Hannah; Tirucherai, Giridhar S.; Yen, Karl; Yuan, Xiling; Wagner, Kathryn R. 分享 收藏
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A Doherty, Carolynne M.; Morrow, Jasper M.; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J.; Grider, Tiffany; Feely, Shawna M. E.; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; Mcdowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M.; Shah, Sachit; Laura, Matilde; Yousry, Tarek A.; Thedens, Daniel; Thornton, John; Shy, Michael E.; Reilly, Mary M. 分享 收藏
Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model Doisy, Mathilde; Vacca, Ophelie; Fergus, Claire; Gileadi, Talia; Verhaeg, Minou; Saoudi, Amel; Tensorer, Thomas; Garcia, Luis; Kelly, Vincent P.; Montanaro, Federica; Morgan, Jennifer E.; van Putten, Maaike; Aartsma-Rus, Annemieke; Vaillend, Cyrille; Muntoni, Francesco; Goyenvalle, Aurelie 分享 收藏
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis Syeda, Safoora B.; Lone, Museer A.; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; Franca, Marcondes C.; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D.; Lakhotia, Arpita; Shieh, Perry B.; Foley, A. Reghan; Jackson, Kelly E.; Chao, Katherine R.; Winder, Thomas L.; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M.; Hornemann, Thorsten; Bonnemann, Carsten G. 分享 收藏
Neuromuscular disease genetics in under-represented populations: increasing data diversity Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G. 分享 收藏
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1 Pipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M.; Skorupinska, Mariola; Blake, Julian; Rossor, Alexander M.; Moran, John J.; Munot, Pinki; Muntoni, Francesco; Laura, Matilde; Svaren, John; Reilly, Mary M. 分享 收藏
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Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models Saoudi, Amel; Fergus, Claire; Gileadi, Talia; Montanaro, Federica; Morgan, Jennifer E. E.; Kelly, Vincent P. P.; Tensorer, Thomas; Garcia, Luis; Vaillend, Cyrille; Muntoni, Francesco; Goyenvalle, Aurelie 分享 收藏
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition Volpatti, Jonathan R.; Ghahramani-Seno, Mehdi M.; Mansat, Melanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J.; Chater-Diehl, Eric; Celik, Alper; Pannia, Emanuela; Froment, Carine; Combes-Soia, Lucie; Maani, Nika; Yuki, Kyoko E.; Chicanne, Gaetan; Uuskula-Reimand, Liis; Monis, Simon; Alvi, Sana Akhtar; Genetti, Casie A.; Payrastre, Bernard; Beggs, Alan H.; Bonnemann, Carsten G.; Muntoni, Francesco; Wilson, Michael D.; Weksberg, Rosanna; Viaud, Julien; Dowling, James J. 分享 收藏
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder Natera-de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai-Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hunter, David G.; Feng, Lucy; Ledoux, Danielle; O'Donnell-Luria, Anne; Phadke, Rahul; Engle, Elizabeth C.; Sarkozy, Anna; Muntoni, Francesco 分享 收藏
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain Munot, Pinki; McCrea, Nadine; Torelli, Silvia; Manzur, Adnan; Sewry, Caroline; Chambers, Darren; Feng, Lucy; Ala, Pierpaolo; Zaharieva, Irina; Ragge, Nicola; Roper, Helen; Marton, Tamas; Cox, Phil; Milev, Miroslav P.; Liang, Wen-Chen; Maruyama, Shinsuke; Nishino, Ichizo; Sacher, Michael; Phadke, Rahul; Muntoni, Francesco 分享 收藏
Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy Lilien, Charlotte; Reyngoudt, Harmen; Seferian, Andreea Mihaela; Gidaro, Teresa; Annoussamy, Melanie; Che, Virginie; Decostre, Valerie; Ledoux, Isabelle; Le Louer, Julien; Guemas, Eric; Muntoni, Francesco; Hogrel, Jean-Yves; Carlier, Pierre Georges; Servais, Laurent 分享 收藏
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