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Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial Lawlor, Michael W.; Schoser, Benedikt; Margeta, Marta; Sewry, Caroline A.; Jones, Karra A.; Shieh, Perry B.; Kuntz, Nancy L.; Smith, Barbara K.; Dowling, James J.; Mueller-Felber, Wolfgang; Boennemann, Carsten G.; Seferian, Andreea M.; Blaschek, Astrid; Neuhaus, Sarah; Foley, A. Reghan; Saade, Dimah N.; Tsuchiya, Etsuko; Qasim, Ummulwara R.; Beatka, Margaret; Prom, Mariah J.; Ott, Emily; Danielson, Susan; Krakau, Paul; Kumar, Suresh N.; Meng, Hui; Vanden Avond, Mark; Wells, Clive; Gordish-Dressman, Heather; Beggs, Alan H.; Christensen, Sarah; Conner, Edward; James, Emma S.; Lee, Jun; Sadhu, Chanchal; Miller, Weston; Sepulveda, Bryan; Varfaj, Fatbardha; Prasad, Suyash; Rico, Salvador 分享 收藏
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients Torelli, Silvia; Scaglioni, Domenic; Sardone, Valentina; Ellis, Matthew J.; Domingos, Joana; Jones, Adam; Feng, Lucy; Chambers, Darren; Eastwood, Deborah M.; Leturcq, France; Ben Yaou, Rabah; Urtizberea, Andoni; Sabouraud, Pascal; Barnerias, Christine; Stojkovic, Tanya; Ricci, Enzo; Beuvin, Maud; Bonne, Gisele; Sewry, Caroline A.; Willis, Tracey; Kulshrestha, Richa; Tasca, Giorgio; Phadke, Rahul; Morgan, Jennifer E.; Muntoni, Francesco 分享 收藏
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy Scaglioni, Dominic; Catapano, Francesco; Ellis, Matthew; Torelli, Silvia; Chambers, Darren; Feng, Lucy; Beck, Matthew; Sewry, Caroline; Monforte, Mauro; Harriman, Shawn; Koenig, Erica; Malhotra, Jyoti; Popplewell, Linda; Guglieri, Michela; Straub, Volker; Mercuri, Eugenio; Servais, Laurent; Phadke, Rahul; Morgan, Jennifer; Muntoni, Francesco 分享 收藏
A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies Scaglioni, Dominic; Ellis, Matthew; Catapano, Francesco; Torelli, Silvia; Chambers, Darren; Feng, Lucy; Sewry, Caroline; Morgan, Jennifer; Muntoni, Francesco; Phadke, Rahul 分享 收藏
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb Laitila, Jenni M.; McNamara, Elyshia L.; Wingate, Catherine D.; Goullee, Hayley; Ross, Jacob A.; Taylor, Rhonda L.; van der Pijl, Robbert; Griffiths, Lisa M.; Harries, Rachel; Ravenscroft, Gianina; Clayton, Joshua S.; Sewry, Caroline; Lawlor, Michael W.; Ottenheijm, Coen A. C.; Bakker, Anthony J.; Ochala, Julien; Laing, Nigel G.; Wallgren-Pettersson, Carina; Pelin, Katarina; Nowak, Kristen J. 分享 收藏
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy PYROXD1-related肌病的临床，组织学和遗传特征 Lornage, Xaviere; Schartner, Vanessa; Balbueno, Ines; Biancalana, Valerie; Willis, Tracey; Echaniz-Laguna, Andoni; Scheidecker, Sophie; Quinlivan, Ros; Fardeau, Michel; Malfatti, Edoardo; Lannes, Beatrice; Sewry, Caroline; Romero, Norma B.; Laporte, Jocelyn; Bohm, Johann 分享 收藏
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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Abath Neto, Osorio; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A. Reghan; Holmes, Chris; Williams, Glyn; Holder, Muriel; Yum, Sabrina; Medne, Livija; Quijano-Roy, Susana; Romero, Norma B.; Faure, Julien; Feng, Lucy; Bastaki, Laila; Davis, Mark R.; Phadke, Rahul; Sewry, Caroline A.; Bonnemann, Carsten G.; Jungbluth, Heinz; Bachmann, Christoph; Treves, Susan; Muntoni, Francesco 分享 收藏
Bi-allelic mutations in MYL1 cause a severe congenital myopathy Ravenscroft, Gianina; Zaharieva, Irina T.; Bortolotti, Carlo A.; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A.; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullee, Hayley; Whyte, Tamieka; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel P. S.; Forrest, Alistair R. R.; Laing, Nigel G.; Muntoni, Francesco 分享 收藏
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A chemical chaperone improves muscle function in mice with a RyR1 mutation Lee, Chang Seok; Hanna, Amy D.; Wang, Hui; Dagnino-Acosta, Adan; Joshi, Aditya D.; Knoblauch, Mark; Xia, Yan; Georgiou, Dimitra K.; Xu, Jianjun; Long, Cheng; Amano, Hisayuki; Reynolds, Corey; Dong, Keke; Martin, John C.; Lagor, William R.; Rodney, George G.; Sahin, Ergun; Sewry, Caroline; Hamilton, Susan L. 分享 收藏
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Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bonnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; De Goede, Christian; da Silva, Tamiris Borges; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Muller, Juliane; Kingston, Helen; Mueller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmuller, Hanns; Senderek, Jan 分享 收藏
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Schartner, Vanessa; Romero, Norma B.; Donkervoort, Sandra; Treves, Susan; Munot, Pinki; Pierson, Tyler Mark; Dabaj, Ivana; Malfatti, Edoardo; Zaharieva, Irina T.; Zorzato, Francesco; Neto, Osorio Abath; Brochier, Guy; Lornage, Xaviere; Eymard, Bruno; Taratuto, Ana Lia; Boehm, Johann; Gonorazky, Hernan; Ramos-Platt, Leigh; Feng, Lucy; Phadke, Rahul; Bharucha-Goebel, Diana X.; Sumner, Charlotte Jane; Bui, Mai Thao; Lacene, Emmanuelle; Beuvin, Maud; Labasse, Clemence; Dondaine, Nicolas; Schneider, Raphael; Thompson, Julie; Boland, Anne; Deleuze, Jean-Francois; Matthews, Emma; Pakleza, Aleksandra Nadaj; Sewry, Caroline A.; Biancalana, Valerie; Quijano-Roy, Susana; Muntoni, Francesco; Fardeau, Michel; Boennemann, Carsten G.; Laporte, Jocelyn 分享 收藏
Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures Brady, Stefen; Healy, Estelle G.; Gang, Qiang; Parton, Matt; Quinlivan, Ros; Jacob, Saiju; Curtis, Elizabeth; Al-Sarraj, Safa; Sewry, Caroline A.; Hanna, Michael G.; Houlden, Henry; Beeson, David; Holton, Janice L. 分享 收藏
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G. W.; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M.; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Koelker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F.; Manchester, David; Boyer, Philip J.; Manzur, Adnan Y.; Lourenco, Charles Marques; Pilz, Daniela T.; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K.; Rogers, R. Curtis; Ryan, Monique M.; Brown, Natasha J.; McLean, Catriona A.; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A.; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz 分享 收藏
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons Lawlor, Michael W.; Beggs, Alan H.; Buj-Bello, Ana; Childers, Martin K.; Dowling, James J.; James, Emma S.; Meng, Hui; Moore, Steven A.; Prasad, Suyash; Schoser, Benedikt; Sewry, Caroline A. 分享 收藏
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