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For: Yamamoto T, Shimojima K. Pelizaeus-Merzbacher disease as a chromosomal disorder. Congenit Anom (Kyoto). 2013;53:3-8. [PMID: 23480352 DOI: 10.1111/cga.12005] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.0] [Reference Citation Analysis]
Number Citing Articles
1 Shimojima K, Shimada S, Tamasaki A, Akaboshi S, Komoike Y, Saito A, Furukawa T, Yamamoto T. Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. Brain Dev 2014;36:315-21. [PMID: 23694757 DOI: 10.1016/j.braindev.2013.04.011] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
2 Xue H, Yu A, Chen X, Lin N, Lin M, Huang H, Xu L. Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease. Aging (Albany NY) 2021;13:1488-97. [PMID: 33429367 DOI: 10.18632/aging.202477] [Reference Citation Analysis]
3 Yamazaki R, Baba H, Yamaguchi Y. Unconventional Myosin ID is Involved in Remyelination After Cuprizone-Induced Demyelination. Neurochem Res 2018;43:195-204. [PMID: 28986688 DOI: 10.1007/s11064-017-2413-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
4 Raasakka A, Kursula P. The myelin membrane-associated enzyme 2',3'-cyclic nucleotide 3'-phosphodiesterase: on a highway to structure and function. Neurosci Bull 2014;30:956-66. [PMID: 24807122 DOI: 10.1007/s12264-013-1437-5] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 3.9] [Reference Citation Analysis]
5 Lu Y, Shimojima K, Sakuma T, Nakaoka S, Yamamoto T. A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. Hum Genome Var 2017;4:16044. [PMID: 28101371 DOI: 10.1038/hgv.2016.44] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
6 Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T. Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease. Hum Genome Var 2021;8:14. [PMID: 33795668 DOI: 10.1038/s41439-021-00144-y] [Reference Citation Analysis]
7 Yamamoto T, Shimada S, Shimojima K. Fiber-fluorescence in situ hybridization analyses as a diagnostic application for orientation of microduplications. World J Med Genet 2013; 3(2): 5-8 [DOI: 10.5496/wjmg.v3.i2.5] [Reference Citation Analysis]
8 Imaizumi T, Yamamoto-Shimojima K, Yamamoto T. Advantages of ddPCR in detection of PLP1 duplications. Intractable Rare Dis Res 2019;8:198-202. [PMID: 31523598 DOI: 10.5582/irdr.2019.01067] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
9 Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N. Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism. Hum Genome Var 2018;5:18. [PMID: 30083362 DOI: 10.1038/s41439-018-0020-z] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
10 Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M. An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities. J Hum Genet 2014;59:300-6. [DOI: 10.1038/jhg.2014.21] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.3] [Reference Citation Analysis]
11 Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T. A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus–Merzbacher disease. Brain and Development 2015;37:281-5. [DOI: 10.1016/j.braindev.2014.05.004] [Cited by in Crossref: 10] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
12 Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1. J Hum Genet 2019;64:665-71. [PMID: 31004103 DOI: 10.1038/s10038-019-0600-x] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
13 Xia J, Wang L. Pelizaeus-Merzbacher disease: Molecular diagnosis and therapy. Intractable Rare Dis Res 2013;2:103-5. [PMID: 25343112 DOI: 10.5582/irdr.2013.v2.3.103] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
14 Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J. Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PLoS One 2018;13:e0188869. [PMID: 29451896 DOI: 10.1371/journal.pone.0188869] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 4.0] [Reference Citation Analysis]
15 Yamamoto T. Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders. Cells 2021;10:2317. [PMID: 34571966 DOI: 10.3390/cells10092317] [Reference Citation Analysis]
16 Kamekura N, Nitta Y, Takuma S, Fujisawa T. General Anesthesia for a Patient With Pelizaeus-Merzbacher Disease. Anesth Prog 2016;63:91-4. [PMID: 27269667 DOI: 10.2344/15-00022.1] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
17 You C, Zeng W, Deng L, Lei Z, Gao X, Zhang VW, Wang Y. Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa. Front Neurol 2020;11:319. [PMID: 32431660 DOI: 10.3389/fneur.2020.00319] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
18 Shirai K, Higashi Y, Shimojima K, Yamamoto T. An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. Am J Med Genet A 2017;173:1124-7. [PMID: 28328133 DOI: 10.1002/ajmg.a.38134] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
19 Yamamoto-Shimojima K, Osawa M, Saito MK, Yamamoto T. Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation. Congenit Anom (Kyoto) 2021;61:63-7. [PMID: 33244819 DOI: 10.1111/cga.12403] [Reference Citation Analysis]