PubMed for id: 1633653

Year	Number of Results
1988	1
1997	1
2001	1
2008	1
2010	1
2011	1
2012	1
2013	1
2014	1
2015	3
2016	1
2017	3
2018	2
2019	1
2021	7
2022	2
2023	3
2024	0

1

[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus].

Gao ZJ, Jiang Q, Chen Q, Xu KM, Liu ZQ, Chen XB, Chen XL. Gao ZJ, et al. Zhonghua Er Ke Za Zhi. 2017 Nov 2;55(11):824-829. doi: 10.3760/cma.j.issn.0578-1310.2017.11.007. Zhonghua Er Ke Za Zhi. 2017. PMID: 29141312 Chinese.

2

Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.

Sager G, Türkyilmaz A, Günbey HP, Taş İ, Ozhelvaci F, Akin Y. Sager G, et al. Eur J Paediatr Neurol. 2023 May;44:51-56. doi: 10.1016/j.ejpn.2023.04.002. Epub 2023 Apr 28. Eur J Paediatr Neurol. 2023. PMID: 37141741

3

Identification of PMD subgroups using a myelination score for PMD.

Harting I, Garbade SF, Rosendaal SD, Mohr A, Sherbini O, Vanderver A, Wolf NI. Harting I, et al. Eur J Paediatr Neurol. 2022 Nov;41:71-79. doi: 10.1016/j.ejpn.2022.10.003. Epub 2022 Nov 4. Eur J Paediatr Neurol. 2022. PMID: 36368233 Free article.

4

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.

Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N. Javadikooshesh S, et al. Iran J Med Sci. 2021 Nov;46(6):493-497. doi: 10.30476/IJMS.2021.87126.1736. Iran J Med Sci. 2021. PMID: 34840390 Free PMC article.

5

Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.

Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P. Brunetti S, et al. Am J Med Genet A. 2021 Aug;185(8):2526-2531. doi: 10.1002/ajmg.a.62345. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008900

6

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.

7

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P. Baldi C, et al. Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221. Clin Genet. 2018. PMID: 29388673

8

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, Hino-Fukuyo N, Matsumoto M, Igarashi K, Haginoya K, Kure S. Arai-Ichinoi N, et al. Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23. Hum Genet. 2016. PMID: 26597493

9

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G. Battini R, et al. BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0. BMC Med Genet. 2015. PMID: 26204956 Free PMC article.

10

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.

Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K. Numata Y, et al. J Neurol. 2014 Apr;261(4):752-8. doi: 10.1007/s00415-014-7263-5. Epub 2014 Feb 16. J Neurol. 2014. PMID: 24532200

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