PubMed for id: 478

Year	Number of Results
1987	5
1988	3
1990	1
1993	3
1994	1
1998	1
1999	1
2000	1
2001	1
2002	1
2003	3
2004	4
2005	1
2006	2
2007	6
2008	2
2009	5
2010	5
2011	5
2012	5
2013	8
2014	15
2015	18
2016	5
2017	5
2018	12
2019	9
2020	13
2021	12
2022	11
2023	7
2024	1

1

Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.

Muthaffar OY, Alqarni A, Shafei JA, Bahowarth SY, Alyazidi AS, Naseer MI. Muthaffar OY, et al. Genes Genomics. 2024 Apr;46(4):475-487. doi: 10.1007/s13258-023-01481-8. Epub 2024 Jan 19. Genes Genomics. 2024. PMID: 38243045

2

ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.

You Y, Zhang Z, Sultana N, Ericsson M, Martens YA, Sun M, Kanekiyo T, Ikezu S, Shaffer SA, Ikezu T. You Y, et al. Sci Adv. 2023 Sep 15;9(37):eadi3647. doi: 10.1126/sciadv.adi3647. Epub 2023 Sep 15. Sci Adv. 2023. PMID: 37713494 Free PMC article.

3

Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.

Alyamani SA, Aldhalaan HM, Almuhaizea MA, Abukhalid MF. Alyamani SA, et al. Neurosciences (Riyadh). 2023 Jul;28(3):195-198. doi: 10.17712/nsj.2023.3.20220131. Neurosciences (Riyadh). 2023. PMID: 37482377 Free PMC article.

4

Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.

Li F, Li R, Zhang Y, Jing X, Liao C. Li F, et al. Neurol Sci. 2023 Apr;44(4):1451-1453. doi: 10.1007/s10072-022-06535-5. Epub 2022 Dec 20. Neurol Sci. 2023. PMID: 36538131 No abstract available.

5

ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.

Huang D, Song X, Ma J, Li X, Guo Y, Li M, Luo H, Fang Z, Yang C, Xie L, Jiang L. Huang D, et al. Eur J Pediatr. 2023 Feb;182(2):825-836. doi: 10.1007/s00431-022-04744-w. Epub 2022 Dec 9. Eur J Pediatr. 2023. PMID: 36484864

6

Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.

Arystarkhova E, Toustrup-Jensen MS, Holm R, Ko JK, Lee KE, Feschenko P, Ozelius LJ, Brashear A, Vilsen B, Sweadner KJ. Arystarkhova E, et al. J Biol Chem. 2023 Jan;299(1):102758. doi: 10.1016/j.jbc.2022.102758. Epub 2022 Dec 1. J Biol Chem. 2023. PMID: 36462665 Free PMC article.

7

The Phenotypic Continuum of ATP1A3-Related Disorders.

Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.

8

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Wei W, Zheng XF, Ruan DD, Gan YM, Zhang YP, Chen Y, Lin XF, Tang FQ, Luo JW, Li YF. Wei W, et al. Neurol Sci. 2022 Apr;43(4):2555-2563. doi: 10.1007/s10072-021-05673-6. Epub 2021 Nov 16. Neurol Sci. 2022. PMID: 34783933

9

The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.

Lax DN, Bieri P, Patel P. Lax DN, et al. J Neurol Sci. 2021 Nov 15;430:120003. doi: 10.1016/j.jns.2021.120003. Epub 2021 Sep 25. J Neurol Sci. 2021. PMID: 34655904

10

Vanishing basal ganglia in ATP1A3-related polymicrogyria.

Ogawa E, Sakaguchi Y, Enokizono M, Yoshihashi H, Yamada M, Suzuki H, Kosaki K, Miyama S, Takenouchi T. Ogawa E, et al. Am J Med Genet A. 2022 Feb;188(2):665-667. doi: 10.1002/ajmg.a.62531. Epub 2021 Oct 11. Am J Med Genet A. 2022. PMID: 34633143 No abstract available.

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