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Page 1
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.
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.
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 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD. Amato ME, et al. Among authors: szabo nz. Eur J Paediatr Neurol. 2024 Nov;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Epub 2024 Oct 9. Eur J Paediatr Neurol. 2024. PMID: 39413657 Review.
[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.
212 results