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Number of items: 2.

Journal Article

Bolduc, Veronique, Foley, A. Reghan, Solomon-Degefa, Herimela, Sarathy, Apurva, Donkervoort, Sandra, Hu, Ying, Chen, Grace S., Sizov, Katherine, Nalls, Matthew, Zhou, Haiyan ORCID: 0000-0001-8440-3074, Aguti, Sara, Cummings, Beryl B., Lek, Monkol, Tukiainen, Taru, Marshall, Jamie L., Regev, Oded, Marek-Yagel, Dina, Sarkozy, Anna, Butterfield, Russell J., Jou, Cristina, Jimenez-Mallebrera, Cecilia ORCID: 0000-0001-8203-7103, Li, Yan, Gartioux, Corine, Mamchaoui, Kamel, Allamand, Valerie, Gualandi, Francesca, Ferlini, Alessandra, Hanssen, Eric ORCID: 0000-0002-4064-1844, Wilton, Steve D., Lamande, Shireen R., MacArthur, Daniel G., Wagener, Raimund, Muntoni, Francesco and Bonnemann, Carsten G. (2019). A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight, 4 (6). ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 2379-3708

Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita ORCID: 0000-0002-3099-0100, Neri, Marcella, Incensi, Alex ORCID: 0000-0003-2163-5403, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano ORCID: 0000-0001-6538-5923, Timmerman, Vincent, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Donadio, Vincenzo, Tugnoli, Valeria and Ferlini, Alessandra (2019). Report of a novel ATP7A mutation causing distal motor neuropathy. Neuromusc. Disord., 29 (10). S. 776 - 786. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

This list was generated on Sun Feb 28 04:00:38 2021 CET.