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Year | Number of Results |
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2002 | 1 |
2004 | 2 |
2009 | 1 |
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2024 | 0 |
PubMed (cited) for id: 620313
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A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation.
Neurology. 2012 Nov 13;79(20):2077-8. doi: 10.1212/WNL.0b013e3182749edc. Epub 2012 Oct 31.
Neurology. 2012.
PMID: 23115207
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S.
Matsukawa T, et al.
Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011 Apr 12.
Neurogenetics. 2011.
PMID: 21484434
No abstract available.
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Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease.
Wu Y, Pan Y, Du L, Wang J, Gu Q, Gao Z, Li J, Leng X, Qin J, Wu X, Jiang Y.
Wu Y, et al.
J Hum Genet. 2009 Feb;54(2):74-7. doi: 10.1038/jhg.2008.10. Epub 2009 Jan 16.
J Hum Genet. 2009.
PMID: 19158808
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The effect of genotype on the natural history of eIF2B-related leukodystrophies.
Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O.
Fogli A, et al.
Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db.
Neurology. 2004.
PMID: 15136673
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Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Fogli A, Schiffmann R, Hugendubler L, Combes P, Bertini E, Rodriguez D, Kimball SR, Boespflug-Tanguy O.
Fogli A, et al.
Eur J Hum Genet. 2004 Jul;12(7):561-6. doi: 10.1038/sj.ejhg.5201189.
Eur J Hum Genet. 2004.
PMID: 15054402
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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.
van der Knaap MS, Leegwater PA, Könst AA, Visser A, Naidu S, Oudejans CB, Schutgens RB, Pronk JC.
van der Knaap MS, et al.
Ann Neurol. 2002 Feb;51(2):264-70. doi: 10.1002/ana.10112.
Ann Neurol. 2002.
PMID: 11835386
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