Not logged inInferring disease course from differential exon usage in the wide titinopathy spectrum
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco .png)
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SaveA Proof of Principle 2D Spatial Proteome Mapping Analysis Reveals Distinct Regional Differences in the Cardiac ProteomeHeywood, Wendy E.; Searle, Jon; Collis, Richard; Doykov, Ivan; Ashworth, Michael; Sebire, Neil; Bamber, Andrew; Gautel, Mathias; Eaton, Simon; Coats, Caroline J.; Elliott, Perry M.; Mills, Kevin Share Save Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisationRees, Martin; Nikoopour, Roksana; Alexandrovich, Alexander; Pfuhl, Mark; Lopes, Luis R.; Akhtar, Mohammed M.; Syrris, Petros; Elliott, Perry; Carr-White, Gerry; Gautel, Mathias Share Save Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2Broadway-Stringer, Sophie; Jiang, He; Wadmore, Kirsty; Hooper, Charlotte; Douglas, Gillian; Steeples, Violetta; Azad, Amar J.; Singer, Evie; Reyat, Jasmeet S.; Galatik, Frantisek; Ehler, Elisabeth; Bennett, Pauline; Kalisch-Smith, Jacinta I.; Sparrow, Duncan B.; Davies, Benjamin; Djinovic-Carugo, Kristina; Gautel, Mathias; Watkins, Hugh; Gehmlich, Katja Share Save Small change, big impact: A Z-disc missense genetic variant causes dramatic morphological changes in the embryonic heartJiang, He; Kalisch-Smith, Jacinta; Sparrow, Duncan; Broadway-Stringer, Sophie; Wadmore, Kirsty; Hooper, Charlotte; Ehler, Elisabeth; Gautel, Mathias; Davies, Benjamin; Watkins, Hugh; Gehmlich, Katja Share Save Position-dependent effects of titin truncation on the heartSantiago, Celine; Huttner, Inken G.; Wang, Louis W.; Chand, Renee; Cvetkovska, Jasmina; Zhao, Gunjan; Hesselson, Daniel; Hinits, Yaniv; O'Brien, Ailbhe; Feneley, Michael; Smith, Kelly; Linke, Wolfgang; Gautel, Mathias; Fatkin, Diane Share Save Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessSavarese, Marco; Vihola, Anna; Jokela, Manu E.; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne Share Save Share Save Share Save The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagyDeneubourg, Celine; Ramm, Mauricio; Smith, Luke J.; Baron, Olga; Singh, Kritarth; Byrne, Susan C.; Duchen, Michael R.; Gautel, Mathias; Eskelinen, Eeva-Liisa; Fanto, Manolis; Jungbluth, Heinz Share Save Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart FailureAkhtar, Mohammed Majid; Lorenzini, Massimiliano; Pavlou, Menelaos; Pablo Ochoa, Juan; O'Mahony, Constantinos; Alejandra Restrepo-Cordoba, Maria; Segura-Rodriguez, Diego; Bermudez-Jimenez, Francisco; Molina, Pilar; Cuenca, Sofia; Ader, Flavie; Larranaga-Moreira, Jose M.; Sabater-Molina, Maria; Garcia-Alvarez, Maria, I; Arantzamendi, Larraitz Gaztanaga; Truszkowska, Grazyna; Ortiz-Genga, Martin; Ruiz, Itziar Solla; Nielsen, Soren Kristian; Rasmussen, Torsten Bloch; Mezcua, Ainhoa Robles; Alvarez-Rubio, Jorge; Eiskjaer, Hans; Gautel, Mathias; Garcia-Pinilla, Jose M.; Ripoll-Vera, Tomas; Mogensen, Jens; Freire, Javier Limeres; Rodriguez-Palomares, Jose F.; Luisa Pena-Pena, Maria; Rangel-Sousa, Diego; Palomino-Doza, Julian; Achaga, Xabier Arana; Bilinska, Zofia; Golvano, Estibaliz Zamarreno; Climent, Vincent; Penalver, Marina Navarro; Barriales-Villa, Roberto; Charron, Philippe; Yotti, Raquel; Zorio, Esther; Jimenez-Jaimez, Juan; Garcia-Pavia, Pablo; Elliott, Perry M. Share Save Share Save Order from disorder in the sarcomere: FATZ forms a fuzzy but tight complex and phase-separated condensates with α-actininSponga, Antonio; Arolas, Joan L.; Schwarz, Thomas C.; Jeffries, Cy M.; Chamorro, Ariadna Rodriguez; Kostan, Julius; Ghisleni, Andrea; Drepper, Friedel; Polyansky, Anton; Ribeiro, Euripedes De Almeida; Pedron, Miriam; Zawadzka-Kazimierczuk, Anna; Mlynek, Georg; Peterbauer, Thomas; Doto, Pierantonio; Schreiner, Claudia; Hollerl, Eneda; Mateos, Borja; Geist, Leonhard; Faulkner, Georgine; Kozminski, Wiktor; Svergun, Dmitri, I; Warscheid, Bettina; Zagrovic, Bojan; Gautel, Mathias; Konrat, Robert; Djinovic-Carugo, Kristina Share Save Making sense of missense variants in TTN-related congenital myopathiesRees, Martin; Nikoopour, Roksana; Fukuzawa, Atsushi; Kho, Ay Lin; Fernandez-Garcia, Miguel A.; Wraige, Elizabeth; Bodi, Istvan; Deshpande, Charu; Oezdemir, Oezkan; Daimagueler, Hulya-Sevcan; Pfuhl, Mark; Holt, Mark; Brandmeier, Birgit; Grover, Sarah; Fluss, Joel; Longman, Cheryl; Farrugia, Maria Elena; Matthews, Emma; Hanna, Michael; Muntoni, Francesco; Sarkozy, Anna; Phadke, Rahul; Quinlivan, Ros; Oates, Emily C.; Schroeder, 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; Dominguez-Gonzalez, Cristina; Cirak, Sebahattin; Ferreiro, Ana; Jungbluth, Heinz; Gautel, Mathias Share Save Share Save Share Save Share Save Share Save Share Save Share Save 
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