未登录 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
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
Common Data Elements for Muscle Biopsy Reporting Dastgir, Jahannaz; Rutkowski, Anne; Alvarez, Rachel; Cossette, Stacy A.; Yan, Ke; Hoffmann, Raymond G.; Sewry, Caroline; Hayashi, Yukiko K.; Goebel, Hans-Hilmar; Bonnemann, Carsten; Lawlor, Michael W. 分享 收藏
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities Henderson, Matthew; De Waele, Liesbeth; Hudson, Judith; Eagle, Michelle; Sewry, Caroline; Marsh, Julie; Charlton, Richard; He, Langping; Blakely, Emma L.; Horrocks, Iain; Stewart, William; Taylor, Robert W.; Longman, Cheryl; Bushby, Kate; Barresi, Rita 分享 收藏
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012) Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y.; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco 分享 收藏
Skeletal Muscle Myopathy Mutations at the Actin-Tropomyosin Interface that Cause Gain Or Loss of Function Memo, Massimilano; Clarke, Nigel F.; Laing, Nigel G.; Nowak, Kristen J.; Ravenscroft, Gianina; Sewry, Caroline; Jain, Rakesh K.; Jaywant, Sandeep; Lehtokari, Vilma-Lotta; Marttila, Mintuu; Wallgren-Petersen, Carina; Marston, Steven 分享 收藏
SEPN1-related myopathies Clinical course in a large cohort of patients Scoto, M.; Cirak, S.; Mein, R.; Feng, L.; Manzur, A. Y.; Robb, S.; Childs, A. -M.; Quinlivan, R. M.; Roper, H.; Jones, D. H.; Longman, C.; Chow, G.; Pane, M.; Main, M.; Hanna, M. G.; Bushby, K.; Sewry, C.; Abbs, S.; Mercuri, E.; Muntoni, F. 分享 收藏
Muscle histology vs MRI in Duchenne muscular dystrophy Kinali, M.; Arechavala-Gomeza, V.; Cirak, S.; Glover, A.; Guglieri, M.; Feng, L.; Hollingsworth, K. G.; Hunt, D.; Jungbluth, H.; Roper, H. P.; Quinlivan, R. M.; Gosalakkal, J. A.; Jayawant, S.; Nadeau, A.; Hughes-Carre, L.; Manzur, A. Y.; Mercuri, E.; Morgan, J. E.; Straub, V.; Bushby, K.; Sewry, C.; Rutherford, M.; Muntoni, F. 分享 收藏
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy Schessl, Joachim; Zou, Yaqun; McGrath, Meagan J.; Cowling, Belinda S.; Maiti, Baijayanta; Chin, Steven S.; Sewry, Caroline; Battini, Roberta; Hu, Ying; Cottle, Denny L.; Rosenblatt, Michael; Spruce, Lynn; Ganguly, Arupa; Kirschner, Janbernd; Judkins, Alexander R.; Golden, Jeffrey A.; Goebel, Hans-Hilmar; Muntoni, Francesco; Flanigan, Kevin M.; Mitchell, Christina A.; Bonnemann, Carsten G. 分享 收藏
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