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KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB. Park J, et al. Among authors: matthies lc. Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7. Ann Clin Transl Neurol. 2019. PMID: 31353862 Free PMC article.
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.
Buchert R, Burkhalter MD, Huridou C, Sofan L, Roser T, Cremer K, Alvi JR, Efthymiou S, Froukh T, Gulieva S, Guliyeva U, Hamdallah M, Holder-Espinasse M, Kaiyrzhanov R, Klingler D, Koko M, Matthies L, Park J, Sturm M, Velic A, Spranger S, Sultan T, Engels H, Lerche H, Houlden H, Pagnamenta AT, Borggraefe I, Weber Y, Bonnen PE, Maroofian R, Riess O, Weber JJ, Philipp M, Haack TB. Buchert R, et al. Am J Hum Genet. 2025 Feb 6;112(2):374-393. doi: 10.1016/j.ajhg.2024.12.019. Epub 2025 Jan 16. Am J Hum Genet. 2025. PMID: 39824192 Free PMC article.
First-in-Human Phase I Trial to Assess the Safety and Immunogenicity of an Orf Virus-Based COVID-19 Vaccine Booster.
Esen M, Fischer-Herr J, Gabor JJ, Gaile JM, Fleischmann WA, Smeenk GW, de Moraes RA, Bélard S, Calle CL, Woldearegai TG, Egger-Adam D, Haug V, Metz C, Reguzova A, Löffler MW, Balode B, Matthies LC, Ramharter M, Amann R, Kremsner PG. Esen M, et al. Among authors: matthies lc. Vaccines (Basel). 2024 Nov 18;12(11):1288. doi: 10.3390/vaccines12111288. Vaccines (Basel). 2024. PMID: 39591190 Free PMC article.