Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Takashi Matsukawa; Xuemin Wang; Rui Liu; Noel C. Wortham; Yuko Onuki; Akatsuki Kubota; Ayumi Hida; Hisatomo Kowa; Yoko Fukuda; Hiroyuki Ishiura; Jun Mitsui; Yuji Takahashi; Shigeki Aoki; Shunya Takizawa; Jun Shimizu; Jun Goto; Christopher G. Proud; Shoji Tsuji

doi:10.1007/s10048-011-0284-7

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Takashi Matsukawa, Xuemin Wang, Rui Liu, Noel C. Wortham, Yuko Onuki, Akatsuki Kubota, Ayumi Hida, Hisatomo Kowa, Yoko Fukuda, Hiroyuki Ishiura, Jun Mitsui, Yuji Takahashi, Shigeki Aoki, Shunya Takizawa, Jun Shimizu, Jun Goto, Christopher G. Proud, Shoji Tsuji

Research output: Contribution to journal › Article › peer-review

36 Citations (Scopus)

Original language	English
Pages (from-to)	259-261
Number of pages	3
Journal	Neurogenetics
Volume	12
Issue number	3
DOIs	https://doi.org/10.1007/s10048-011-0284-7
Publication status	Published or Issued - Aug 2011
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)
Cellular and Molecular Neuroscience

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10.1007/s10048-011-0284-7

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Matsukawa, T., Wang, X., Liu, R., Wortham, N. C., 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, C. G., & Tsuji, S. (2011). Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenetics, 12(3), 259-261. https://doi.org/10.1007/s10048-011-0284-7

@article{cbdca14d7a26497aae5d10373e89026b,

title = "Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5",

author = "Takashi Matsukawa and Xuemin Wang and Rui Liu and Wortham, \{Noel C.\} and Yuko Onuki and Akatsuki Kubota and Ayumi Hida and Hisatomo Kowa and Yoko Fukuda and Hiroyuki Ishiura and Jun Mitsui and Yuji Takahashi and Shigeki Aoki and Shunya Takizawa and Jun Shimizu and Jun Goto and Proud, \{Christopher G.\} and Shoji Tsuji",

note = "Funding Information: This work was supported in part by KAKENHI (Grant-in-Aid for Scientific Research) on Priority Areas, Innovative Areas, Global COE Program for Chemical Biology of the Diseases, and Scientific Research (A) from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and a Grant-in-Aid for Research on Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Welfare and Labour, Japan. CGP gratefully acknowledges the support from the UK Biotechnology and Biotechnology Research Council. ",

year = "2011",

month = aug,

doi = "10.1007/s10048-011-0284-7",

language = "English",

volume = "12",

pages = "259--261",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "3",

}

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 2011, 'Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5', Neurogenetics, vol. 12, no. 3, pp. 259-261. https://doi.org/10.1007/s10048-011-0284-7

TY - JOUR

T1 - Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

AU - Matsukawa, Takashi

AU - Wang, Xuemin

AU - Liu, Rui

AU - Wortham, Noel C.

AU - Onuki, Yuko

AU - Kubota, Akatsuki

AU - Hida, Ayumi

AU - Kowa, Hisatomo

AU - Fukuda, Yoko

AU - Ishiura, Hiroyuki

AU - Mitsui, Jun

AU - Takahashi, Yuji

AU - Aoki, Shigeki

AU - Takizawa, Shunya

AU - Shimizu, Jun

AU - Goto, Jun

AU - Proud, Christopher G.

AU - Tsuji, Shoji

N1 - Funding Information: This work was supported in part by KAKENHI (Grant-in-Aid for Scientific Research) on Priority Areas, Innovative Areas, Global COE Program for Chemical Biology of the Diseases, and Scientific Research (A) from the Ministry of Education, Culture, Sports, Science and Technology of Japan, and a Grant-in-Aid for Research on Intractable Diseases and Comprehensive Research on Disability Health and Welfare from the Ministry of Health, Welfare and Labour, Japan. CGP gratefully acknowledges the support from the UK Biotechnology and Biotechnology Research Council.

PY - 2011/8

Y1 - 2011/8

UR - https://www.scopus.com/pages/publications/80052708158

U2 - 10.1007/s10048-011-0284-7

DO - 10.1007/s10048-011-0284-7

M3 - Article

C2 - 21484434

AN - SCOPUS:80052708158

SN - 1364-6745

VL - 12

SP - 259

EP - 261

JO - Neurogenetics

JF - Neurogenetics

IS - 3

ER -

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

ASJC Scopus subject areas

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