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Page 1
Mechanoenzymatics of titin kinase.
Puchner EM, Alexandrovich A, Kho AL, Hensen U, Schäfer LV, Brandmeier B, Gräter F, Grubmüller H, Gaub HE, Gautel M. Puchner EM, et al. Among authors: kho al. Proc Natl Acad Sci U S A. 2008 Sep 9;105(36):13385-90. doi: 10.1073/pnas.0805034105. Epub 2008 Sep 2. Proc Natl Acad Sci U S A. 2008. PMID: 18765796 Free PMC article.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Cullup T, et al. Among authors: al owain m, kho al, al kaabi s. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222957 Free PMC article.
Clinical utility gene card for: Vici Syndrome.
Cullup T, Dionisi-Vici C, Kho AL, Yau S, Mohammed S, Gautel M, Jungbluth H. Cullup T, et al. Among authors: kho al. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.142. Epub 2013 Jul 10. Eur J Hum Genet. 2014. PMID: 23838600 Free PMC article. No abstract available.
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: kho al. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Structure of the native myosin filament in the relaxed cardiac sarcomere.
Tamborrini D, Wang Z, Wagner T, Tacke S, Stabrin M, Grange M, Kho AL, Rees M, Bennett P, Gautel M, Raunser S. Tamborrini D, et al. Among authors: kho al. Nature. 2023 Nov;623(7988):863-871. doi: 10.1038/s41586-023-06690-5. Epub 2023 Nov 1. Nature. 2023. PMID: 37914933 Free PMC article.
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