Literature DB >> 21484434

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.   

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Year:  2011        PMID： 21484434     DOI： 10.1007/s10048-011-0284-7

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  2 in total

1.  Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

Authors:  Pierre Labauge; Laetitia Horzinski; Xavier Ayrignac; Pierre Blanc; Sandra Vukusic; Diana Rodriguez; Francois Mauguiere; Laure Peter; Cyril Goizet; Francoise Bouhour; Christian Denier; Christian Confavreux; Michael Obadia; Frederic Blanc; Jérome de Sèze; Anne Fogli; Odile Boespflug-Tanguy
Journal:  Brain       Date:  2009-08       Impact factor: 13.501

2.  Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways.

Authors:  Wei Li; Xuemin Wang; Marjo S Van Der Knaap; Christopher G Proud
Journal:  Mol Cell Biol       Date:  2004-04       Impact factor: 4.272
  2 in total
  13 in total

1.  Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

Authors:  Roberta La Piana; Adeline Vanderver; Marjo van der Knaap; Louise Roux; Donatella Tampieri; Bernard Brais; Geneviève Bernard
Journal:  Arch Neurol       Date:  2012-06

2.  An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.

Authors:  Qing Dong; Ling Long; Yan-Yu Chang; Yan-Jun Lin; Mei Liu; Zheng-Qi Lu
Journal:  J Hum Genet       Date:  2018-04-17       Impact factor: 3.172

3.  Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Authors:  Elena J Tucker; Sonia R Grover; Gorjana Robevska; Jocelyn van den Bergen; Chloe Hanna; Andrew H Sinclair
Journal:  Eur J Hum Genet       Date:  2018-04-30       Impact factor: 4.246

4.  Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Authors:  Sergio Alejandro Rodríguez-Quiroga; Marta Cordoba; Dolores González-Morón; Nancy Medina; Patricia Vega; Cecilia Vazquez Dusefante; Tomoko Arakaki; Nélida Susana Garretto; Marcelo Andres Kauffman
Journal:  Genet Res (Camb)       Date:  2015       Impact factor: 1.588

5.  Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature.

Authors:  Fanxin Kong; Haotao Zheng; Xuan Liu; Songjun Lin; Jianjun Wang; Zhouke Guo
Journal:  Front Neurol       Date:  2022-06-16       Impact factor: 4.086

Review 6.  Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients.

Authors:  Yuting Ren; Xueying Yu; Bin Chen; Hefei Tang; Songtao Niu; Xingao Wang; Hua Pan; Zaiqiang Zhang
Journal:  Neurol Sci       Date:  2022-04-07       Impact factor: 3.830

7.  Autophagy in Myelinating Glia.

Authors:  Jillian Belgrad; Raffaella De Pace; R Douglas Fields
Journal:  J Neurosci       Date:  2019-11-19       Impact factor: 6.167

8.  An autopsy case of infantile-onset vanishing white matter disease related to an EIF2B2 mutation (V85E) in a hemizygous region.

Authors:  Yukiko Hata; Koshi Kinoshita; Kazushi Miya; Keiichi Hirono; Fukiko Ichida; Koji Yoshida; Naoki Nishida
Journal:  Int J Clin Exp Pathol       Date:  2014-05-15

9.  Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Authors:  Jiandong Shen; Dianyun Qu; Yan Gao; Fangxi Sun; Jiazi Xie; Xueping Sun; Daowu Wang; Xiang Ma; Yugui Cui; Jiayin Liu; Feiyang Diao
Journal:  J Assist Reprod Genet       Date:  2021-02-04       Impact factor: 3.412

10.  eIF2B promotes eIF5 dissociation from eIF2*GDP to facilitate guanine nucleotide exchange for translation initiation.

Authors:  Martin D Jennings; Yu Zhou; Sarah S Mohammad-Qureshi; David Bennett; Graham D Pavitt
Journal:  Genes Dev       Date:  2013-12-15       Impact factor: 11.361
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