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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2006 1
2007 1
2008 3
2009 3
2010 8
2011 5
2012 4
2013 3
2014 4
2015 2
2016 3
2017 5
2018 11
2019 9
2020 12
2021 12
2022 13
2023 5
2024 2

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90 results

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Page 1
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: horvath g. J Inherit Metab Dis. 2024 Mar 18. doi: 10.1002/jimd.12723. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38499966
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: horvath g. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Yeganeh M, March K, Jones C, Ho G, Selby KA, Chanoine JP, Stockler S, Salvarinova R, Horvath G, Brunel-Guitton C. Yeganeh M, et al. Among authors: horvath g. Mol Genet Metab Rep. 2023 Mar 10;35:100961. doi: 10.1016/j.ymgmr.2023.100961. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 36941958 Free PMC article.
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A. Almarzooqi F, et al. Among authors: horvath g. Acta Haematol. 2023;146(3):220-225. doi: 10.1159/000529311. Epub 2023 Feb 10. Acta Haematol. 2023. PMID: 36774923 Review.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Among authors: horvath g. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
Aminoacyl-tRNA synthetases in human health and disease.
Turvey AK, Horvath GA, Cavalcanti ARO. Turvey AK, et al. Among authors: horvath ga. Front Physiol. 2022 Oct 18;13:1029218. doi: 10.3389/fphys.2022.1029218. eCollection 2022. Front Physiol. 2022. PMID: 36330207 Free PMC article. Review.
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.
Juliá-Palacios N, Molina-Anguita C, Sigatulina Bondarenko M, Cortès-Saladelafont E, Aparicio J, Cuadras D, Horvath G, Fons C, Artuch R, García-Cazorla À; Institut de Recerca Sant Joan de Déu Working Group. Juliá-Palacios N, et al. Among authors: horvath g. Dev Med Child Neurol. 2022 Jul;64(7):915-923. doi: 10.1111/dmcn.15140. Epub 2022 Jan 31. Dev Med Child Neurol. 2022. PMID: 35833444 Free article.
90 results