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There are 241803 results for: content related to: Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

  1. You have free access to this content
    Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy

    Genes to Cells

    Volume 15, Issue 5, May 2010, Pages: 425–438, Kazuhiro Yamamoto, Takahiro Seki, Naoko Adachi, Tetsuya Takahashi, Shigeru Tanaka, Izumi Hide, Naoaki Saito and Norio Sakai

    Article first published online : 11 APR 2010, DOI: 10.1111/j.1365-2443.2010.01395.x

  2. New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14

    Annals of Neurology

    Volume 58, Issue 5, November 2005, Pages: 720–729, Stephan Klebe, Alexandra Durr, Alexander Rentschler, Valerie Hahn-Barma, Michael Abele, Naima Bouslam, Ludger Schöls, Pierre Jedynak, Sylvie Forlani, Elodie Denis, Christel Dussert, Yves Agid, Peter Bauer, Christoph Globas, Ullrich Wüllner, Alexis Brice, Olaf Riess and Giovanni Stevanin

    Article first published online : 28 SEP 2005, DOI: 10.1002/ana.20628

  3. Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights

    Neuropathology and Applied Neurobiology

    Volume 38, Issue 7, December 2012, Pages: 665–680, U. Rüb, K. Bürk, D. Timmann, W. den Dunnen, K. Seidel, K. Farrag, E. Brunt, H. Heinsen, R. Egensperger, A. Bornemann, S. Schwarzacher, H.-W. Korf, L. Schöls, J. Bohl and T. Deller

    Article first published online : 14 NOV 2012, DOI: 10.1111/j.1365-2990.2012.01259.x

  4. Genetics of the Autosomal Dominant Spinocerebellar Ataxias

    Standard Article


    Marc Corral-Juan, Jordi Corral, Héctor San Nicolás, Victor Volpini and Antoni Matilla-Dueñas

    Published Online : 17 OCT 2011, DOI: 10.1002/9780470015902.a0006076

  5. Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

    Movement Disorders

    Volume 22, Issue 2, 15 January 2007, Pages: 265–267, Dagmar Nolte, Melanie Landendinger, Eberhard Schmitt and Ulrich Müller

    Article first published online : 5 DEC 2006, DOI: 10.1002/mds.21269

  6. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

    Acta Neurologica Scandinavica

    Volume 125, Issue 2, February 2012, Pages: 116–122, J. Koht, G. Stevanin, A. Durr, E. Mundwiller, A. Brice and C. M. E. Tallaksen

    Article first published online : 21 MAR 2011, DOI: 10.1111/j.1600-0404.2011.01504.x

  7. You have free access to this content
    SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization

    Journal of Neurochemistry

    Volume 128, Issue 5, March 2014, Pages: 741–751, Justyna Jezierska, Joachim Goedhart, Harm H. Kampinga, Eric A. Reits and Dineke S. Verbeek

    Article first published online : 13 NOV 2013, DOI: 10.1111/jnc.12491

  8. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Article first published online : 12 JUN 2015, DOI: 10.1002/mds.26295

  9. Bolivian kindred with combined spinocerebellar ataxia types 2 and 10

    Acta Neurologica Scandinavica

    Volume 132, Issue 2, August 2015, Pages: 139–142, J. F. Baizabal-Carvallo, G. Xia, P. Botros, J. Laguna, T. Ashizawa and J. Jankovic

    Article first published online : 28 JAN 2015, DOI: 10.1111/ane.12371

  10. Triplet Repeat Diseases

    Standard Article

    Reviews in Cell Biology and Molecular Medicine

    Stephan J. Guyenet and Albert R. Spada

    Published Online : 15 SEP 2006, DOI: 10.1002/3527600906.mcb.200500027

  11. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1,286 Japanese patients

    American Journal of Medical Genetics

    Volume 114, Issue 5, 8 July 2002, Pages: 578–583, Hirofumi Maruyama, Yuishin Izumi, Hiroyuki Morino, Masaya Oda, Hiromasa Toji, Shigenobu Nakamura and Hideshi Kawakami

    Article first published online : 31 MAY 2002, DOI: 10.1002/ajmg.10514

  12. You have free access to this content
    Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1

    Journal of Neurochemistry

    Volume 127, Issue 5, December 2013, Pages: 660–668, Uzay E. Emir, Howard Brent Clark, Manda L. Vollmers, Lynn E. Eberly and Gülin Öz

    Article first published online : 17 SEP 2013, DOI: 10.1111/jnc.12435

  13. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Article first published online : 6 JUN 2014, DOI: 10.1002/mds.25914

  14. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype

    Movement Disorders

    Volume 21, Issue 7, July 2006, Pages: 1025–1028, Monique H.M. Vlak, Richard J. Sinke, Gwenda M. Rabelink, Berry P.H. Kremer and Bart P.C. van de Warrenburg

    Article first published online : 17 MAR 2006, DOI: 10.1002/mds.20851

  15. Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

    Movement Disorders

    Volume 25, Issue 9, 15 July 2010, Pages: 1269–1273, Alessandro Brussino, Claudio Graziano, Dario Giobbe, Marina Ferrone, Elisa Dragone, Carlo Arduino, Raffaele Lodi, Caterina Tonon, Anna Gabellini, Rita Rinaldi, Sara Miccoli, Enrico Grosso, Maria Cristina Bellati, Laura Orsi, Nicola Migone and Alfredo Brusco

    Article first published online : 13 APR 2010, DOI: 10.1002/mds.22835

  16. You have free access to this content
    Poster Presentations

    Movement Disorders

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

    Article first published online : 19 JUN 2012, DOI: 10.1002/mds.25051

  17. Abstracts

    Movement Disorders

    Volume 29, Issue S2, November 2014, Pages: S13–S101,

    Article first published online : 26 NOV 2014, DOI: 10.1002/mds.26090

  18. Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress

    European Journal of Neuroscience

    Volume 26, Issue 11, December 2007, Pages: 3126–3140, Takahiro Seki, Hideyuki Takahashi, Naoko Adachi, Nana Abe, Takayuki Shimahara, Naoaki Saito and Norio Sakai

    Article first published online : 14 NOV 2007, DOI: 10.1111/j.1460-9568.2007.05933.x

  19. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12

    Annals of Neurology

    Volume 50, Issue 6, December 2001, Pages: 796–800, Achal K. Srivastava, Shweta Choudhry, Musuwadi S. Gopinath, Sanghamitra Roy, Manjari Tripathi, Samir K. Brahmachari and Satish Jain

    Article first published online : 1 NOV 2001, DOI: 10.1002/ana.10048

  20. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19

    Annals of Neurology

    Volume 72, Issue 6, December 2012, Pages: 870–880, Anna Duarri, Justyna Jezierska, Michiel Fokkens, Michel Meijer, Helenius J. Schelhaas, Wilfred F. A. den Dunnen, Freerk van Dijk, Corien Verschuuren-Bemelmans, Gerard Hageman, Pieter van de Vlies, Benno Küsters, Bart P. van de Warrenburg, Berry Kremer, Cisca Wijmenga, Richard J. Sinke, Morris A. Swertz, Harm H. Kampinga, Erik Boddeke and Dineke S. Verbeek

    Article first published online : 31 DEC 2012, DOI: 10.1002/ana.23700