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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Rymen D, Lindhout M, Spanou M, Ashrafzadeh F, Benkel I, Betzler C, Coubes C, Hartmann H, Kaplan JD, Ballhausen D, Koch J, Lotte J, Mohammadi MH, Rohrbach M, Dinopoulos A, Wermuth M, Willis D, Brugger K, Wevers RA, Boltshauser E, Bierau J, Mayr JA, Wortmann SB. Rymen D, et al. Among authors: brugger k. Genet Med. 2020 Oct;22(10):1589-1597. doi: 10.1038/s41436-020-0933-z. Epub 2020 Aug 21. Genet Med. 2020. PMID: 32820246 Free article.
BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.
Yu Q, Tai YY, Tang Y, Zhao J, Negi V, Culley MK, Pilli J, Sun W, Brugger K, Mayr J, Saggar R, Saggar R, Wallace WD, Ross DJ, Waxman AB, Wendell SG, Mullett SJ, Sembrat J, Rojas M, Khan OF, Dahlman JE, Sugahara M, Kagiyama N, Satoh T, Zhang M, Feng N, Gorcsan J 3rd, Vargas SO, Haley KJ, Kumar R, Graham BB, Langer R, Anderson DG, Wang B, Shiva S, Bertero T, Chan SY. Yu Q, et al. Among authors: brugger k. Circulation. 2019 May 7;139(19):2238-2255. doi: 10.1161/CIRCULATIONAHA.118.035889. Circulation. 2019. PMID: 30759996 Free PMC article.
First Expert Elicitation of Knowledge on Possible Drivers of Observed Increasing Human Cases of Tick-Borne Encephalitis in Europe.
Saegerman C, Humblet MF, Leandri M, Gonzalez G, Heyman P, Sprong H, L'Hostis M, Moutailler S, Bonnet SI, Haddad N, Boulanger N, Leib SL, Hoch T, Thiry E, Bournez L, Kerlik J, Velay A, Jore S, Jourdain E, Gilot-Fromont E, Brugger K, Geller J, Studahl M, Knap N, Avšič-Županc T, Růžek D, Zomer TP, Bødker R, Berger TFH, Martin-Latil S, De Regge N, Raffetin A, Lacour SA, Klein M, Lernout T, Quillery E, Hubálek Z, Ruiz-Fons F, Estrada-Peña A, Fravalo P, Kooh P, Etore F, Gossner CM, Purse B. Saegerman C, et al. Among authors: brugger k. Viruses. 2023 Mar 20;15(3):791. doi: 10.3390/v15030791. Viruses. 2023. PMID: 36992499 Free PMC article.
104 results