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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Among authors: christ s. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U. Reischl-Hajiabadi AT, et al. Among authors: christ s. J Inherit Metab Dis. 2024 Apr 2. doi: 10.1002/jimd.12731. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38563533
Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid.
Rossmann J, Christ S, Richter S, Friedrich Garbade S, Friedrich Hoffmann G, Opladen T, Günther Okun J. Rossmann J, et al. Among authors: christ s. J Chromatogr B Analyt Technol Biomed Life Sci. 2022 Dec 1;1212:123503. doi: 10.1016/j.jchromb.2022.123503. Epub 2022 Oct 14. J Chromatogr B Analyt Technol Biomed Life Sci. 2022. PMID: 36279779
Cancer-specific dose and fractionation schedules in stereotactic body radiotherapy for oligometastatic disease: An interim analysis of the EORTC-ESTRO E2-RADIatE OligoCare study.
Christ SM, Alongi F, Ricardi U, Scorsetti M, Livi L, Balermpas P, Lievens Y, Braam P, Jereczek-Fossa BA, Stellamans K, Ratosa I, Widder J, Peulen H, Dirix P, Bral S, Ramella S, Hemmatazad H, Khanfir K, Geets X, Jeene P, Zilli T, Fournier B, Ivaldi GB, Clementel E, Fortpied C, Oppong FB, Ost P, Guckenberger M. Christ SM, et al. Radiother Oncol. 2024 Mar 19;195:110235. doi: 10.1016/j.radonc.2024.110235. Online ahead of print. Radiother Oncol. 2024. PMID: 38508239 Free article.
373 results