著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI) Martin Rees and Roksana Nikoopour and Atsushi Fukuzawa and Ay Lin Kho and Miguel A. Fernandez-Garcia and Elizabeth Wraige and Istvan Bodi and Charu Deshpande and Özkan Özdemir and Hülya-Sevcan Daimagüler and Mark Pfuhl and Mark Holt and Birgit Brandmeier and Sarah Grover and Joël Fluss and Cheryl Longman and Maria Elena Farrugia and Emma Matthews and Michael Hanna and Francesco Muntoni and Anna Sarkozy and Rahul Phadke and Ros Quinlivan and Emily C. Oates and Rolf Schröder and Christian Thiel and Jens Reimann and Nicol Voermans and Corrie Erasmus and Erik-Jan Kamsteeg and Chaminda Konersman and Carla Grosmann and Shane McKee and Sandya Tirupathi and Steven A. Moore and Ekkehard Wilichowski and Elke Hobbiebrunken and Gabriele Dekomien and Isabelle Richard and Peter Van den Bergh and Cristina Domínguez-González and Sebahattin Cirak and Ana Ferreiro and Heinz Jungbluth and Mathias Gautel,Making sense of missense variants in TTN-related congenital myopathies,Acta Neuropathologica,0001-6322,Springer Science and Business Media LLC,2021-01-15,141,3,431-453,https://cir.nii.ac.jp/crid/1360865821444859520,https://doi.org/10.1007/s00401-020-02257-0