Publication
Making sense of missense variants in TTN-related congenital myopathies
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Özkan Özdemir, Hülya-Sevcan Daimagüler, Mark Pfuhl, Mark Holt, Birgit Brandmeier, Sarah Grover, Joël Fluss, Cheryl Longman, Maria Elena Farrugia, Emma Matthews, Michael Hanna, Francesco Muntoni, Anna Sarkozy, Rahul Phadke, Ros Quinlivan, Emily C. Oates, Rolf Schröder, Christian Thiel, Jens Reimann, Nicol Voermans, Corrie Erasmus, Erik-Jan Kamsteeg, Chaminda Konersman, Carla Grosmann, Shane McKee, Sandya Tirupathi, Steven A. Moore, Ekkehard Wilichowski, Elke Hobbiebrunken, Gabriele Dekomien, Isabelle Richard, Peter Van den Bergh, Cristina Domínguez-González, Sebahattin Cirak, Ana Ferreiro, Heinz Jungbluth, Mathias Gautel
Acta Neuropathologica, January 2021, Springer Science + Business Media
DOI: 10.1007/s00401-020-02257-0