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For: Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 2010;32:171-179. [PMID: 19328639 DOI: 10.1016/j.braindev.2009.02.011] [Cited by in Crossref: 25] [Cited by in F6Publishing: 24] [Article Influence: 1.9] [Reference Citation Analysis]
Number Citing Articles
1 Martínez-montero P, Muñoz-calero M, Vallespín E, Campistol J, Martorell L, Ruiz-falcó M, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J. PLP1 gene analysis in 88 patients with leukodystrophy: Mutations in PLP1 gene. Clin Genet 2013;84:566-71. [DOI: 10.1111/cge.12103] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
2 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]
3 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]
4 Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy: New insights into PMD mechanism. Pediatr Int 2014;56:659-66. [DOI: 10.1111/ped.12450] [Cited by in Crossref: 27] [Cited by in F6Publishing: 21] [Article Influence: 3.4] [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 Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients. Brain Dev 2016;38:571-80. [PMID: 26774704 DOI: 10.1016/j.braindev.2015.12.007] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 1.7] [Reference Citation Analysis]
8 Shimojima K, Mano T, Kashiwagi M, Tanabe T, Sugawara M, Okamoto N, Arai H, Yamamoto T. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet. 2012;55:400-403. [PMID: 22490426 DOI: 10.1016/j.ejmg.2012.02.013] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 2.0] [Reference Citation Analysis]
9 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]
10 Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease. Journal of the Neurological Sciences 2013;330:123-6. [DOI: 10.1016/j.jns.2013.04.017] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.8] [Reference Citation Analysis]
11 Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular Disorders 2009;19:485-8. [DOI: 10.1016/j.nmd.2009.06.366] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
12 Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet 2012;81:532-41. [PMID: 21623770 DOI: 10.1111/j.1399-0004.2011.01716.x] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 1.8] [Reference Citation Analysis]
13 Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet 2017;26:1927-41. [PMID: 28334874 DOI: 10.1093/hmg/ddx102] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
14 Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M. MECP2 duplication syndrome in both genders. Brain Dev. 2013;35:411-419. [PMID: 22877836 DOI: 10.1016/j.braindev.2012.07.010] [Cited by in Crossref: 38] [Cited by in F6Publishing: 35] [Article Influence: 3.8] [Reference Citation Analysis]
15 Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J. Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease. Orphanet J Rare Dis 2022;17:137. [PMID: 35346287 DOI: 10.1186/s13023-022-02267-z] [Reference Citation Analysis]
16 Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Am J Med Genet 2013;161:3049-56. [DOI: 10.1002/ajmg.a.36156] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.0] [Reference Citation Analysis]
17 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]
18 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]
19 Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Am J Med Genet 2013;161:1779-85. [DOI: 10.1002/ajmg.a.35975] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.7] [Reference Citation Analysis]
20 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]
21 Nakayama T, Nabatame S, Saito Y, Nakagawa E, Shimojima K, Yamamoto T, Kaneko Y, Okumura K, Fujie H, Uematsu M, Komaki H, Sugai K, Sasaki M. 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome. Seizure 2012;21:295-9. [PMID: 22300624 DOI: 10.1016/j.seizure.2012.01.002] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.7] [Reference Citation Analysis]
22 Shimojima K, Inoue T, Imai Y, Arai Y, Komoike Y, Sugawara M, Fujita T, Ideguchi H, Yasumoto S, Kanno H. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet. 2012;57:580-586. [PMID: 22695888 DOI: 10.1038/jhg.2012.71] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 1.7] [Reference Citation Analysis]
23 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]
24 Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus. Birth Defects Res A Clin Mol Teratol 2012;94:494-8. [PMID: 22511562 DOI: 10.1002/bdra.23015] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
25 Osório MJ, Goldman SA. Neurogenetics of Pelizaeus-Merzbacher disease. Handb Clin Neurol 2018;148:701-22. [PMID: 29478609 DOI: 10.1016/B978-0-444-64076-5.00045-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]