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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: thiel c. 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.
Clinical and molecular delineation of spondylocostal dysostosis type 3.
Schuhmann S, Koller H, Sticht H, Kraus C, Krumbiegel M, Uebe S, Ekici AB, Reis A, Thiel CT. Schuhmann S, et al. Among authors: thiel ct. Clin Genet. 2021 Jun;99(6):851-852. doi: 10.1111/cge.13952. Epub 2021 Mar 16. Clin Genet. 2021. PMID: 33728697 No abstract available.
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R. Argente-Escrig H, et al. Among authors: thiel c. Neuropathol Appl Neurobiol. 2021 Feb;47(2):352-356. doi: 10.1111/nan.12652. Epub 2020 Aug 23. Neuropathol Appl Neurobiol. 2021. PMID: 32757300 No abstract available.
Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder.
Hetzelt KLML, Kerling F, Kraus C, Rauch C, Thiel CT, Winterholler M, Reis A, Zweier C. Hetzelt KLML, et al. Among authors: thiel ct. Eur J Med Genet. 2021 Jan;64(1):104123. doi: 10.1016/j.ejmg.2020.104123. Epub 2020 Dec 15. Eur J Med Genet. 2021. PMID: 33338668
685 results