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Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Among authors: szabo n. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Online ahead of print. Eur J Neurol. 2024. PMID: 38576261
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. Hiz Kurul S, et al. Among authors: szabo nz. Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395. Brain. 2022. PMID: 34791078 Free PMC article.
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Among authors: szabo n. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S, Oktay Y, Hiz S, Aranguren-Ibáñez Á, Kalafatcilar I, Yaramis A, Karaca E, Yis U, Sonmezler E, Ekinci B, Aslan M, Yilmaz E, Özgör B, Balaraju S, Szabo N, Laurie S, Beltran S, MacArthur DG, Hathazi D, Töpf A, Roos A, Lochmuller H, Vernos I, Horvath R. Gungor S, et al. Among authors: szabo n. iScience. 2020 Dec 30;24(1):101948. doi: 10.1016/j.isci.2020.101948. eCollection 2021 Jan 22. iScience. 2020. PMID: 33458610 Free PMC article.
[A race against time: POEMS syndrome].
Rónaszéki B, Sandi D, Ónodi Á, Szabó N, Dézsi L, Tajti J, Piukovics K. Rónaszéki B, et al. Among authors: szabo n. Ideggyogy Sz. 2024 May 30;77(5-6):212-216. doi: 10.18071/isz.77.0212. Ideggyogy Sz. 2024. PMID: 38829245 Free article. Hungarian.
The reference genome of Macropodus opercularis (the paradise fish).
Fodor E, Okendo J, Szabó N, Szabó K, Czimer D, Tarján-Rácz A, Szeverényi I, Low BW, Liew JH, Koren S, Rhie A, Orbán L, Miklósi Á, Varga M, Burgess SM. Fodor E, et al. Among authors: szabo n. Sci Data. 2024 May 25;11(1):540. doi: 10.1038/s41597-024-03277-1. Sci Data. 2024. PMID: 38796485 Free PMC article.
Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus.
Mathey CM, Maj C, Eriksson N, Krebs K, Westmeier J, David FS, Koromina M, Scheer AB, Szabo N, Wedi B, Wieczorek D, Amann PM, Löffler H, Koch L, Schöffl C, Dickel H, Ganjuur N, Hornung T, Buhl T, Greve J, Wurpts G, Aygören-Pürsün E, Steffens M, Herms S, Heilmann-Heimbach S, Hoffmann P, Schmidt B, Mavarani L, Andresen T, Sørensen SB, Andersen V, Vogel U, Landén M, Bulik CM; Estonian Biobank Research Team; DBDS Genomic Consortium; Bygum A, Magnusson PKE, von Buchwald C, Hallberg P, Rye Ostrowski S, Sørensen E, Pedersen OB, Ullum H, Erikstrup C, Bundgaard H, Milani L, Rasmussen ER, Wadelius M, Ghouse J, Sachs B, Nöthen MM, Forstner AJ. Mathey CM, et al. Among authors: szabo n. J Allergy Clin Immunol. 2024 Apr;153(4):1073-1082. doi: 10.1016/j.jaci.2023.11.921. Epub 2024 Jan 31. J Allergy Clin Immunol. 2024. PMID: 38300190 Free article.
207 results