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Science Advances|May 29, 2021
Order from disorder in the sarcomere: FATZ forms a fuzzy but tight complex and phase-separated condensates with α-actininAntonio Sponga, Joan L Arolas, Thomas C Schwarz, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
JAMA Cardiology|May 12, 2021
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart FailureMohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, et al.
Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
Annals of Neurology|October 7, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset ParkinsonismHormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, et al.
Autophagy|September 12, 2012
Guidelines for the use and interpretation of assays for monitoring autophagyDaniel J Klionsky, Fabio C Abdalla, Hagai Abeliovich, et al.
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