Making sense of missense variants in TTN-related congenital myopathies
Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Özdemir, Özkan, Daimagüler, Hülya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joël, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma, Hanna, Michael, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schröder, Rolf, Thiel, Christian, Reimann, Jens, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Domínguez-González, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz, Gautel, Mathias
Published in Acta neuropathologica (01.03.2021)
Published in Acta neuropathologica (01.03.2021)
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Journal Article
High-Throughput Production and Biophysical Characterization of Wild Type and Variant Titin Domains
Rees, Martin, Alexandrovich, Alexander, Nikoopour, Roksana, Grover, Sarah, Laddach, Anna, Fraternali, Franca, Jungbluth, Heinz, Gautel, Mathias
Published in Biophysical journal (07.02.2020)
Published in Biophysical journal (07.02.2020)
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Journal Article
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation
Rees, Martin, Nikoopour, Roksana, Alexandrovich, Alexander, Pfuhl, Mark, Lopes, Luis R., Akhtar, Mohammed M., Syrris, Petros, Elliott, Perry, Carr-White, Gerry, Gautel, Mathias
Published in Journal of structural biology (01.09.2023)
Published in Journal of structural biology (01.09.2023)
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Journal Article
Structural and biophysical characterisation of titin missense variants in genetic myopathies and cardiomyopathies
Nikoopour, Roksana, Rees, Martin, Pfuhl, Mark, Ferreiro, Ana, Elliott, Perry, Gautel, Mathias
Published in Acta crystallographica. Section A, Foundations and advances (22.08.2018)
Published in Acta crystallographica. Section A, Foundations and advances (22.08.2018)
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Journal Article