PubMed for id: 1639355

Year	Number of Results
1999	1
2000	1
2001	1
2004	1
2005	2
2006	2
2007	5
2008	11
2009	6
2010	9
2011	17
2012	17
2013	20
2014	27
2015	26
2016	15
2017	30
2018	20
2019	19
2020	27
2021	35
2022	25
2023	19
2024	8

1

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

Abdel-Hamid MS, Abdel-Salam GMH, Issa MY, Emam BA, Zaki MS. Abdel-Hamid MS, et al. J Hum Genet. 2017 Apr;62(5):553-559. doi: 10.1038/jhg.2017.4. Epub 2017 Feb 9. J Hum Genet. 2017. PMID: 28179633

2

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

Aggarwal S, Bahal A, Dalal A. Aggarwal S, et al. Eur J Med Genet. 2016 Jan;59(1):5-10. doi: 10.1016/j.ejmg.2015.11.014. Epub 2015 Dec 12. Eur J Med Genet. 2016. PMID: 26689621 Review.

3

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. O'Driscoll MC, et al. Am J Hum Genet. 2010 Sep 10;87(3):354-64. doi: 10.1016/j.ajhg.2010.07.012. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727516 Free PMC article.

4

A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction.

Ekinci F, Yildizdas RD, Horoz OO, Herguner O, Bisgin A. Ekinci F, et al. Eur J Med Genet. 2020 Jun;63(6):103923. doi: 10.1016/j.ejmg.2020.103923. Epub 2020 Mar 30. Eur J Med Genet. 2020. PMID: 32240828

5

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Jenkinson EM, Livingston JH, O'Driscoll MC, Desguerre I, Nabbout R, Boddaert N, Soares G, Gonçalves da Rocha M, D'Arrigo S, Rice GI, Crow YJ. Jenkinson EM, et al. Clin Genet. 2018 Feb;93(2):228-234. doi: 10.1111/cge.13025. Epub 2017 Aug 3. Clin Genet. 2018. PMID: 28386946

6

Recognizable phenotypes associated with intracranial calcification.

Livingston JH, Stivaros S, van der Knaap MS, Crow YJ. Livingston JH, et al. Dev Med Child Neurol. 2013 Jan;55(1):46-57. doi: 10.1111/j.1469-8749.2012.04437.x. Epub 2012 Nov 1. Dev Med Child Neurol. 2013. PMID: 23121296 Free article.

7

SAMHD1 dysfunction induces IL-34 expression via NF-κB p65 in neuronal SH-SY5Y cells.

Zhang L, Wang W, Chen T, Cui J, Li X, Liu A, Liu R, Fang L, Jiang J, Yang L, Wu D, Ying S. Zhang L, et al. Mol Immunol. 2024 Apr;168:1-9. doi: 10.1016/j.molimm.2024.02.003. Epub 2024 Feb 17. Mol Immunol. 2024. PMID: 38367301

8

Progress in leukodystrophies with zebrafish.

Shih HY, Raas Q, Bonkowsky JL. Shih HY, et al. Dev Growth Differ. 2024 Jan;66(1):21-34. doi: 10.1111/dgd.12907. Epub 2024 Jan 19. Dev Growth Differ. 2024. PMID: 38239149 Review.

9

Impact of Disease-Associated Mutations on the Deaminase Activity of ADAR1.

Karki A, Campbell KB, Mozumder S, Fisher AJ, Beal PA. Karki A, et al. Biochemistry. 2024 Feb 6;63(3):282-293. doi: 10.1021/acs.biochem.3c00405. Epub 2024 Jan 8. Biochemistry. 2024. PMID: 38190734 Free PMC article.

10

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

Garcia L, Gonzalez CD, Gagne A, McGuire JA, French D, Takanohashi A, Almad A, Vanderver A, Sase S. Garcia L, et al. Stem Cell Res. 2024 Feb;74:103299. doi: 10.1016/j.scr.2023.103299. Epub 2023 Dec 28. Stem Cell Res. 2024. PMID: 38181636 Free PMC article.

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