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There are 15099 results for: content related to: Novel α1 and γ2 GABA A receptor subunit mutations in families with idiopathic generalized epilepsy

  1. You have free access to this content
    mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies

    Epilepsia

    Volume 53, Issue s9, December 2012, Pages: 59–70, Robert L. Macdonald and Jing-Qiong Kang

    Article first published online : 7 DEC 2012, DOI: 10.1111/epi.12035

  2. You have free access to this content
    Mutations in GABAA receptor subunits associated with genetic epilepsies

    The Journal of Physiology

    Volume 588, Issue 11, June 2010, Pages: 1861–1869, Robert L. Macdonald, Jing-Qiong Kang and Martin J. Gallagher

    Article first published online : 28 MAY 2010, DOI: 10.1113/jphysiol.2010.186999

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    An intron in the YRA1 gene is required to control Yra1 protein expression and mRNA export in yeast

    EMBO reports

    Volume 3, Issue 5, May 2002, Pages: 438–442, Susana Rodríguez-Navarro, Katja Sträßer and Ed Hurt

    Article first published online : 1 MAY 2002, DOI: 10.1093/embo-reports/kvf091

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    Electrophysiological Evidence for the Coexistence of α1 and α6 Subunits in a Single Functional GABAA Receptor

    Journal of Neurochemistry

    Volume 74, Issue 6, June 2000, Pages: 2590–2596, Erwin Sigel and Roland Baur

    Article first published online : 18 JAN 2002, DOI: 10.1046/j.1471-4159.2000.0742590.x

  5. Evidence of selection at the ramosa1 locus during maize domestication

    Molecular Ecology

    Volume 19, Issue 7, April 2010, Pages: 1296–1311, BRANDI SIGMON and ERIK VOLLBRECHT

    Article first published online : 24 FEB 2010, DOI: 10.1111/j.1365-294X.2010.04562.x

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    The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABAA receptor channel gating and expression

    The Journal of Physiology

    Volume 589, Issue 23, December 2011, Pages: 5857–5878, Ciria C. Hernandez, Katharine N. Gurba, Ningning Hu and Robert L. Macdonald

    Article first published online : 29 NOV 2011, DOI: 10.1113/jphysiol.2011.218883

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    Expression and regulation of HTRA1 during chick and early mouse development

    Developmental Dynamics

    Volume 237, Issue 7, July 2008, Pages: 1893–1900, Anna Ferrer-Vaquer, Pablo Maurey, Johannes Werzowa, Nicole Firnberg, Andreas Leibbrandt and Annette Neubüser

    Article first published online : 20 JUN 2008, DOI: 10.1002/dvdy.21597

  8. A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy

    Annals of Neurology

    Volume 59, Issue 6, June 2006, Pages: 983–987, Snezana Maljevic, Klaus Krampfl, Joana Cobilanschi, Nikola Tilgen, Susanne Beyer, Yvonne G. Weber, Friedrich Schlesinger, Daniel Ursu, Werner Melzer, Patrick Cossette, Johannes Bufler, Holger Lerche and Armin Heils

    Article first published online : 22 MAY 2006, DOI: 10.1002/ana.20874

  9. Association Between GABRA1 and Drinking Behaviors in the Collaborative Study on the Genetics of Alcoholism Sample

    Alcoholism: Clinical and Experimental Research

    Volume 30, Issue 7, July 2006, Pages: 1101–1110, Danielle M. Dick, Jevon Plunkett, Leah Flury Wetherill, Xiaoling Xuei, Alison Goate, Victor Hesselbrock, Marc Schuckit, Raymond Crowe, Howard J. Edenberg and Tatiana Foroud

    Article first published online : 8 JUN 2006, DOI: 10.1111/j.1530-0277.2006.00136.x

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    NANOS2 Acts Downstream of Glial Cell Line-Derived Neurotrophic Factor Signaling to Suppress Differentiation of Spermatogonial Stem Cells

    STEM CELLS

    Volume 30, Issue 2, February 2012, Pages: 280–291, Aiko Sada, Kazuteru Hasegawa, Pui Han Pin and Yumiko Saga

    Article first published online : 18 JAN 2012, DOI: 10.1002/stem.790

  11. De novo GABRA1 mutations in Ohtahara and West syndromes

    Epilepsia

    Volume 57, Issue 4, April 2016, Pages: 566–573, Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, Toshiyuki Maeda, Kaoru Araki, Daisuke Tajima, Muneaki Matsuo, Naomi Hino-Fukuyo, Kosuke Kohashi, Akihiko Ishiyama, Saoko Takeshita, Hirotaka Motoi, Taro Kitamura, Atsuo Kikuchi, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masayuki Sasaki, Shigeo Kure, Kazuhiro Haginoya, Hirotomo Saitsu and Naomichi Matsumoto

    Article first published online : 25 FEB 2016, DOI: 10.1111/epi.13344

  12. Assembly, trafficking and function of α1β2γ2 GABAA receptors are regulated by N-terminal regions, in a subunit-specific manner

    Journal of Neurochemistry

    Volume 134, Issue 5, September 2015, Pages: 819–832, Lik-Wei Wong, Han-Shen Tae and Brett A. Cromer

    Article first published online : 26 JUN 2015, DOI: 10.1111/jnc.13175

  13. Adolescent-onset GABAAα1 silencing regulates reward-related decision making

    European Journal of Neuroscience

    Volume 42, Issue 4, August 2015, Pages: 2114–2121, Laura M. Butkovich, Lauren M. DePoy, Amanda G. Allen, Lauren P. Shapiro, Andrew M. Swanson and Shannon L. Gourley

    Article first published online : 4 AUG 2015, DOI: 10.1111/ejn.12995

  14. You have full text access to this OnlineOpen article
    Desensitization and binding properties determine distinct α1β2γ2 and α3β2γ2 GABAA receptor-channel kinetic behavior

    European Journal of Neuroscience

    Volume 25, Issue 9, May 2007, Pages: 2726–2740, Andrea Barberis, Jerzy W. Mozrzymas, Pavel I. Ortinski and Stefano Vicini

    Article first published online : 6 JUN 2007, DOI: 10.1111/j.1460-9568.2007.05530.x

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    Prenylation is required for polar cell elongation, cell adhesion, and differentiation in Physcomitrella patens

    The Plant Journal

    Volume 78, Issue 3, May 2014, Pages: 441–451, Julie M. Thole, Pierre-Francois Perroud, Ralph S. Quatrano and Mark P. Running

    Article first published online : 7 APR 2014, DOI: 10.1111/tpj.12484

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    A prolonged cold treatment-induced cytochrome P450 gene from Arabidopsis thaliana

    Plant, Cell & Environment

    Volume 22, Issue 7, July 1999, Pages: 791–800, P. Bilodeau, M. K. Udvardi, W. J. Peacock and E. S. Dennis

    Article first published online : 1 MAR 2002, DOI: 10.1046/j.1365-3040.1999.00444.x

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    A novel positive allosteric modulator of the GABAA receptor: the action of (+)-ROD188

    British Journal of Pharmacology

    Volume 131, Issue 4, October 2000, Pages: 843–850, Urs Thomet, Roland Baur, Rodolphe Razet, Robert H Dodd, Roman Furtmüller, Werner Sieghart and Erwin Sigel

    Article first published online : 29 JAN 2009, DOI: 10.1038/sj.bjp.0703558

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    Sequential activation of phoshatidylinositol 3-kinase and phospholipase C-γ2 by the M-CSF receptor is necessary for differentiation signaling

    The EMBO Journal

    Volume 16, Issue 19, October 1, 1997, Pages: 5880–5893, Roland P. Bourette, Gary M. Myles, Jung-Lim Choi and Larry R. Rohrschneider

    Article first published online : 1 OCT 1997, DOI: 10.1093/emboj/16.19.5880

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    Zn2+ inhibition of recombinant GABAA receptors: an allosteric, state-dependent mechanism determined by the γ-subunit

    The Journal of Physiology

    Volume 506, Issue 3, February 1998, Pages: 609–625, K. J. Gingrich and P. M. Burkat

    Article first published online : 22 SEP 2004, DOI: 10.1111/j.1469-7793.1998.609bv.x

  20. You have free access to this content
    An important role of phospholipase Cγ1 in pre-B-cell development and allelic exclusion

    The EMBO Journal

    Volume 23, Issue 20, October 13, 2004, Pages: 4007–4017, Renren Wen, Yuhong Chen, James Schuman, Guoping Fu, Shoua Yang, Weiguo Zhang, Debra K Newman and Demin Wang

    Article first published online : 16 SEP 2004, DOI: 10.1038/sj.emboj.7600405