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There are 21669 results for: content related to: PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases

  1. Thalamocortical dysconnectivity in paroxysmal kinesigenic dyskinesia: Combining functional magnetic resonance imaging and diffusion tensor imaging

    Movement Disorders

    Volume 32, Issue 4, April 2017, Pages: 592–600, Zhiliang Long, Qiang Xu, Huan-Huan Miao, Yang Yu, Mei-Ping Ding, Huafu Chen, Zhi-Rong Liu and Wei Liao

    Version of Record online : 10 FEB 2017, DOI: 10.1002/mds.26905

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    Spatial and temporal regulation of protein kinase D (PKD)

    The EMBO Journal

    Volume 19, Issue 12, June 15, 2000, Pages: 2935–2945, Sharon A. Matthews, Teresa Iglesias, Enrique Rozengurt and Doreen Cantrell

    Version of Record online : 15 JUN 2000, DOI: 10.1093/emboj/19.12.2935

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    Identification of genes involved in the ciliary trafficking of C. elegans PKD-2

    Developmental Dynamics

    Volume 237, Issue 8, August 2008, Pages: 2021–2029, Young-Kyung Bae, Jamie Lyman-Gingerich, Maureen M. Barr and Karla M. Knobel

    Version of Record online : 13 APR 2008, DOI: 10.1002/dvdy.21531

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    Protein kinase D mediates a stress-induced NF-κB activation and survival pathway

    The EMBO Journal

    Volume 22, Issue 1, January 2, 2003, Pages: 109–120, Peter Storz and Alex Toker

    Version of Record online : 2 JAN 2003, DOI: 10.1093/emboj/cdg009

  5. Vasopressin-induced intracellular redistribution of protein kinase D in intestinal epithelial cells

    Journal of Cellular Physiology

    Volume 196, Issue 3, September 2003, Pages: 483–492, Osvaldo Rey, Elena Zhukova, James Sinnett-Smith and Enrique Rozengurt

    Version of Record online : 19 MAY 2003, DOI: 10.1002/jcp.10323

  6. Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

    Movement Disorders

    Volume 29, Issue 9, August 2014, Pages: 1108–1116, Roberto Erro, Una-Marie Sheerin and Kailash P. Bhatia

    Version of Record online : 25 JUN 2014, DOI: 10.1002/mds.25933

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    Regulation of Protein Kinase D During Differentiation and Proliferation of Primary Mouse Keratinocytes

    Journal of General Internal Medicine

    Volume 20, Issue 5, May 2005, Pages: 294–306, M. Ernest Dodd, Vladimir L. Ristich, Sagarika Ray, Robert M. Lober and Wendy B. Bollag

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.0022-202X.2005.23780.x

  8. Early neuropsychiatry features in neuroferritinopathy

    Movement Disorders

    Volume 28, Issue 9, August 2013, Pages: 1310–1313, Michael J. Keogh, Baldev Singh and Patrick F. Chinnery

    Version of Record online : 23 FEB 2013, DOI: 10.1002/mds.25371

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    Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations

    Developmental Medicine & Child Neurology

    Volume 55, Issue 4, April 2013, Pages: 327–334, Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, Mary D King, Martin Smith, Karl Rakshi, Alasdair Parker, Andrew A Mallick, Richard Brown, Grace Vassallo, Philip E Jardine, Marilisa M Guerreiro, Andrew J Lees, Henry Houlden and Manju A Kurian

    Version of Record online : 30 JAN 2013, DOI: 10.1111/dmcn.12056

  10. PRRT2 mutations and paroxysmal disorders

    European Journal of Neurology

    Volume 20, Issue 6, June 2013, Pages: 872–878, A. Méneret, C. Gaudebout, F. Riant, M. Vidailhet, C. Depienne and E. Roze

    Version of Record online : 9 FEB 2013, DOI: 10.1111/ene.12104

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    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

  12. The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies

    Movement Disorders

    Volume 32, Issue 3, March 2017, Pages: 310–318, Roberto Erro, Kailash P. Bhatia, Alberto J. Espay and Pasquale Striano

    Version of Record online : 16 JAN 2017, DOI: 10.1002/mds.26901

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    Recruitment of protein kinase D to the trans-Golgi network via the first cysteine-rich domain

    The EMBO Journal

    Volume 20, Issue 21, November 1, 2001, Pages: 5982–5990, Yusuke Maeda, Galina V. Beznoussenko, Johan Van Lint, Alexander A. Mironov and Vivek Malhotra

    Version of Record online : 1 NOV 2001, DOI: 10.1093/emboj/20.21.5982

  14. A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification

    Movement Disorders

    Volume 31, Issue 12, December 2016, Pages: 1905–1909, Chang-he Shi, Shu-yu Zhang, Zhi-hua Yang, Jing Yang, Dan-dan Shang, Cheng-yuan Mao, Hao Liu, Hai-man Hou, Meng-meng Shi, Jun Wu and Yu-ming Xu

    Version of Record online : 9 DEC 2016, DOI: 10.1002/mds.26828

  15. Altered inhibitory modulation of somatosensory cortices in paroxysmal kinesigenic dyskinesia

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1728–1731, Wan-Yu Hsu, Shang-Yeong Kwan, Kwong-Kum Liao, Rou-Shayn Chen and Yung-Yang Lin

    Version of Record online : 20 SEP 2013, DOI: 10.1002/mds.25656

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    Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes

    Genes, Brain and Behavior

    Volume 12, Issue 2, March 2013, Pages: 234–240, X.-R. Liu, M. Wu, N. He, H. Meng, L. Wen, J.-L. Wang, M.-P. Zhang, W.-B. Li, X. Mao, J.-M. Qin, B.-M. Li, B. Tang, Y.-H. Deng, Y.-W. Shi, T. Su, Y.-H. Yi, B.-S. Tang and W.-P. Liao

    Version of Record online : 21 DEC 2012, DOI: 10.1111/gbb.12008

  17. Mutations of proline-rich transmembrane protein-2 and paroxysmal kinesigenic dyskinesia in Taiwan

    Movement Disorders

    Volume 28, Issue 10, September 2013, Pages: 1459–1460, Yi-Chun Chen, Yun-Shien Lee, Chen-Chang Shih, Tony Wu and Chiung-Mei Chen

    Version of Record online : 23 FEB 2013, DOI: 10.1002/mds.25399

  18. A post hoc study on gene panel analysis for the diagnosis of dystonia

    Movement Disorders

    Volume 32, Issue 4, April 2017, Pages: 569–575, Martje E. van Egmond, Coen H.A. Lugtenberg, Oebele F. Brouwer, Maria Fiorella Contarino, Victor S.C. Fung, M. Rebecca Heiner-Fokkema, Jacobus J. van Hilten, Annemarie H. van der Hout, Kathryn J. Peall, Richard J. Sinke, Emmanuel Roze, Corien C. Verschuuren-Bemelmans, Michel A. Willemsen, Nicole I. Wolf, Marina A. Tijssen and Tom J. de Koning

    Version of Record online : 10 FEB 2017, DOI: 10.1002/mds.26937

  19. Interictal myoclonus with paroxysmal kinesigenic dyskinesia

    Movement Disorders

    Volume 21, Issue 9, September 2006, Pages: 1533–1535, Valerie Cochen De Cock, Frederic Bourdain, Emmanuelle Apartis, Jean Marc Trocello, Emmanuel Roze and Marie Vidailhet

    Version of Record online : 8 JUN 2006, DOI: 10.1002/mds.20992

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    PLCγ1 Participates in Protein Transport and Diacylglycerol Production Triggered by cargo Arrival at the Golgi

    Traffic

    Volume 16, Issue 3, March 2015, Pages: 250–266, Adrià Sicart, Matilda Katan, Gustavo Egea and Elisabet Sarri

    Version of Record online : 6 JAN 2015, DOI: 10.1111/tra.12246