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Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. by Elizabeth Stevens, Silvia Torelli, Lucy Feng, Rahul Phadke, Maggie C Walter, Peter Schneiderat, Ayad Eddaoudi, Caroline A Sewry, Francesco Muntoni
Published 2013-01-01Get full text
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2
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. by Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni
Published 2013-01-01Get full text
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3
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera
Published 2013-01-01Get full text
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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants by Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann
Published 2025-03-01Get full text
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