PubMed for id: 905068

Year	Number of Results
1988	1
1993	1
2002	1
2004	4
2005	3
2006	7
2007	7
2008	5
2009	2
2010	6
2011	4
2012	6
2013	9
2014	6
2015	8
2016	9
2017	10
2018	6
2019	11
2020	8
2021	10
2022	6
2023	8
2024	3

1

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. Tonduti D, et al. Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28. Eur J Paediatr Neurol. 2016. PMID: 26643067

2

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloğlu H, Nürnberg P, Hübner C, Weschke B, Gärtner J. Uhlenberg B, et al. Am J Hum Genet. 2004 Aug;75(2):251-60. doi: 10.1086/422763. Epub 2004 Jun 10. Am J Hum Genet. 2004. PMID: 15192806 Free PMC article.

3

An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.

Yamamoto A, Shimizu-Motohashi Y, Ishiyama A, Kurosawa K, Sasaki M, Sato N, Osaka H, Takanashi JI, Inoue K. Yamamoto A, et al. Pediatr Neurol. 2024 Feb;151:80-83. doi: 10.1016/j.pediatrneurol.2023.11.014. Epub 2023 Dec 1. Pediatr Neurol. 2024. PMID: 38134864

4

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

5

A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.

Yoon Han J, Gon Cho Y, Park J, Jang W. Yoon Han J, et al. Clin Chim Acta. 2022 Aug 1;533:15-21. doi: 10.1016/j.cca.2022.06.007. Epub 2022 Jun 9. Clin Chim Acta. 2022. PMID: 35691411

6

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.

Gavazzi F, Charsar BA, Williams C, Shults J, Alves CA, Adang L, Vanderver A. Gavazzi F, et al. J Child Neurol. 2021 Sep;36(10):805-811. doi: 10.1177/08830738211000977. J Child Neurol. 2021. PMID: 34514881 Free PMC article.

7

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. Mendes MI, et al. Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2020. PMID: 31814314 Free PMC article.

8

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Llaci L, Ramsey K, Belnap N, Claasen AM, Balak CD, Szelinger S, Jepsen WM, Siniard AL, Richholt R, Izat T, Naymik M, De Both M, Piras IS, Craig DW, Huentelman MJ, Narayanan V, Schrauwen I, Rangasamy S. Llaci L, et al. Hum Genet. 2019 Dec;138(11-12):1409-1417. doi: 10.1007/s00439-019-02077-7. Epub 2019 Nov 20. Hum Genet. 2019. PMID: 31748968

9

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Remerand G, et al. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13. Dev Med Child Neurol. 2019. PMID: 31410843 Free article.

10

Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.

Kavanaugh BC, Warren EB, Baytas O, Schmidt M, Merck D, Buch K, Liu JS, Phornphutkul C, Caruso P, Morrow EM. Kavanaugh BC, et al. Am J Med Genet A. 2019 Nov;179(11):2284-2291. doi: 10.1002/ajmg.a.61322. Epub 2019 Aug 12. Am J Med Genet A. 2019. PMID: 31403263 Free PMC article.

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