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There are 26439 results for: content related to: An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease

  1. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

    Annals of Neurology

    Volume 51, Issue 2, February 2002, Pages: 264–270, Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst, Allerdien Visser, Sakkubai Naidu, Cees B.M. Oudejans, Ruud B.H. Schutgens and Jan C. Pronk

    Article first published online : 27 DEC 2001, DOI: 10.1002/ana.10112

  2. Vanishing white matter disease: A review with focus on its genetics

    Mental Retardation and Developmental Disabilities Research Reviews

    Volume 12, Issue 2, 2006, Pages: 123–128, Jan C. Pronk, Barbara van Kollenburg, Gert C. Scheper and Marjo S. van der Knaap

    Article first published online : 28 JUN 2006, DOI: 10.1002/mrdd.20104

  3. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

    Human Mutation

    Volume 32, Issue 9, September 2011, Pages: 1036–1045, Rui Liu, Hannemieke D.W. van der Lei, Xuemin Wang, Noel C. Wortham, Hua Tang, Carola G.M. van Berkel, Tsitsi Arikana Mufunde, Weida Huang, Marjo S. van der Knaap, Gert C. Scheper and Christopher G. Proud

    Article first published online : 16 AUG 2011, DOI: 10.1002/humu.21535

  4. Proteomics-level analysis of myelin formation and regeneration in a mouse model for Vanishing White Matter disease

    Journal of Neurochemistry

    Volume 134, Issue 3, August 2015, Pages: 513–526, Irit Gat-Viks, Tamar Geiger, Mali Barbi, Gali Raini and Orna Elroy-Stein

    Article first published online : 14 MAY 2015, DOI: 10.1111/jnc.13142

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    Identification of ten novel mutations in patients with eIF2B-related disorders

    Human Mutation

    Volume 25, Issue 4, April 2005, Page: 411, Andreas Ohlenbusch, Marco Henneke, Knut Brockmann, Maria Goerg, Folker Hanefeld, Alfried Kohlschütter and Jutta Gärtner

    Article first published online : 17 MAR 2005, DOI: 10.1002/humu.9325

  6. Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarism

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 826–830, April L. Woody, David T. Hsieh, Harkirtin K. McIver, Linda P. Thomas and Luis Rohena

    Article first published online : 9 MAR 2015, DOI: 10.1002/ajmg.a.36961

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    Exon Deletion in the Non-catalytic Domain of eIF2Bɛ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity

    Annals of Human Genetics

    Volume 72, Issue 3, May 2008, Pages: 410–415, L. Horzinski, C. Gonthier, D. Rodriguez, C. Scherer, O. Boespflug-Tanguy and A. Fogli

    Article first published online : 21 FEB 2008, DOI: 10.1111/j.1469-1809.2007.00427.x

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    Leucoencephalopathy with vanishing white matter may cause progressive myoclonus epilepsy


    Volume 49, Issue 5, May 2008, Pages: 910–913, An C. Jansen, Eva Andermann, Florence Niel, Isabelle Creveaux, Odile Boespflug-Tanguy and Frederick Andermann

    Article first published online : 7 FEB 2008, DOI: 10.1111/j.1528-1167.2008.01542.x

  9. Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 401–403, Takamichi Kanbayashi, Fumiaki Saito, Takashi Matsukawa, Hiroshi Oba, Keiichi Hokkoku, Yuki Hatanaka, Shoji Tsuji and Masahiro Sonoo

    Article first published online : 20 JAN 2015, DOI: 10.1111/cge.12554

  10. Vanishing white matter disease in a child presenting with ataxia

    Journal of Paediatrics and Child Health

    Volume 41, Issue 1-2, January 2005, Pages: 65–67, CJ Wilson, JC Pronk and MS Van der Knaap

    Article first published online : 25 JAN 2005, DOI: 10.1111/j.1440-1754.2005.00540.x

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    Conserved bipartite motifs in yeast eIF5 and eIF2Bϵ, GTPase-activating and GDP–GTP exchange factors in translation initiation, mediate binding to their common substrate eIF2

    The EMBO Journal

    Volume 18, Issue 6, March 15, 1999, Pages: 1673–1688, Katsura Asano, Thanuja Krishnamoorthy, Lon Phan, Graham D. Pavitt and Alan G. Hinnebusch

    Article first published online : 15 MAR 1999, DOI: 10.1093/emboj/18.6.1673

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    Eukaryotic initiation factor 2B: identification of multiple phosphorylation sites in the ϵ-subunit and their functions in vivo

    The EMBO Journal

    Volume 20, Issue 16, August 15, 2001, Pages: 4349–4359, Xuemin Wang, Fiona E.M. Paulin, Linda E. Campbell, Edith Gomez, Kirsty O'Brien, Nicholas Morrice and Christopher G. Proud

    Article first published online : 15 AUG 2001, DOI: 10.1093/emboj/20.16.4349

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    Characterization of the minimal catalytic domain within eIF2B: the guanine-nucleotide exchange factor for translation initiation

    The EMBO Journal

    Volume 21, Issue 19, October 1, 2002, Pages: 5292–5301, Edith Gomez, Sarah S. Mohammad and Graham D. Pavitt

    Article first published online : 1 OCT 2002, DOI: 10.1093/emboj/cdf515

  14. Dominant form of vanishing white matter–like leukoencephalopathy

    Annals of Neurology

    Volume 58, Issue 4, October 2005, Pages: 634–639, Pierre Labauge, Anne Fogli, Giovanni Castelnovo, Alice Le Bayon, Laetitia Horzinski, François Nicoli, Patrick Cozzone, Michel Pagès, Caroline Briere, Christiane Marty-Double, Olivier Delhaume, Antoinette Gelot, Odile Boespflug-Tanguy and Diana Rodriguez

    Article first published online : 26 JUL 2005, DOI: 10.1002/ana.20573

  15. Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study

    Journal of Magnetic Resonance Imaging

    Volume 35, Issue 4, April 2012, Pages: 926–932, Xiao-Qi Ding, Annette Bley, Andreas Ohlenbusch, Alfried Kohlschütter, Jens Fiehler, Wenzhen Zhu and Heinrich Lanfermann

    Article first published online : 29 NOV 2011, DOI: 10.1002/jmri.23517

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    A role for eukaryotic translation initiation factor 2B (eIF2B) in taste memory consolidation and in thermal control establishment during the critical period for sensory development

    Developmental Neurobiology

    Volume 67, Issue 6, May 2007, Pages: 728–739, Sharon Tirosh, Alina Elkobi, Kobi Rosenblum and Noam Meiri

    Article first published online : 20 FEB 2007, DOI: 10.1002/dneu.20378

  17. Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

    Annals of Neurology

    Volume 52, Issue 4, October 2002, Pages: 506–510, Anne Fogli, Kondi Wong, Eleonore Eymard-Pierre, Jack Wenger, John-Paul Bouffard, Ehud Goldin, Deborah N. Black, Odile Boespflug-Tanguy and Raphael Schiffmann

    Article first published online : 29 AUG 2002, DOI: 10.1002/ana.10339

  18. Fright is a provoking factor in vanishing white matter disease

    Annals of Neurology

    Volume 57, Issue 4, April 2005, Pages: 560–563, Gerre Vermeulen, Rainer Seidl, Saadet Mercimek-Mahmutoglu, Jan J. Rotteveel, Gert C. Scheper and Marjo S. van der Knaap

    Article first published online : 22 MAR 2005, DOI: 10.1002/ana.20418

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    Eukaryotic initiation factor 2B epsilon induces cap-dependent translation and skeletal muscle hypertrophy

    The Journal of Physiology

    Volume 589, Issue 12, June 2011, Pages: 3023–3037, David L. Mayhew, Troy A. Hornberger, Hannah C. Lincoln and Marcas M. Bamman

    Article first published online : 14 JUN 2011, DOI: 10.1113/jphysiol.2010.202432

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    An eIF5/eIF2 complex antagonizes guanine nucleotide exchange by eIF2B during translation initiation

    The EMBO Journal

    Volume 25, Issue 19, October 4, 2006, Pages: 4537–4546, Chingakham Ranjit Singh, Bumjun Lee, Tsuyoshi Udagawa, Sarah S Mohammad-Qureshi, Yasufumi Yamamoto, Graham D Pavitt and Katsura Asano

    Article first published online : 21 SEP 2006, DOI: 10.1038/sj.emboj.7601339