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There are 25703 results for: content related to: A patient homozygous for the SCA6 gene with retinitis pigmentosa

  1. Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum

    Neuropathology

    Volume 32, Issue 6, December 2012, Pages: 595–603, Makoto Takahashi, Kinya Ishikawa, Nozomu Sato, Masato Obayashi, Yusuke Niimi, Taro Ishiguro, Mitsunori Yamada, Yasuko Toyoshima, Hitoshi Takahashi, Takeo Kato, Masaki Takao, Shigeo Murayama, Osamu Mori, Yoshinobu Eishi and Hidehiro Mizusawa

    Article first published online : 7 MAR 2012, DOI: 10.1111/j.1440-1789.2012.01302.x

  2. 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

  3. Spinocerebellar ataxia type 6: Systematic patho-anatomical study reveals different phylogenetically defined regions of the cerebellum and neural pathways undergo different evolutions of the degenerative process

    Neuropathology

    Volume 30, Issue 5, October 2010, Pages: 501–514, Xuejing Wang, Hui Wang, Yujun Xia, Hong Jiang, Lu Shen, Shoubiao Wang, Ruowu Shen, Qian Xu, Xuegang Luo and Beisha Tang

    Article first published online : 26 JAN 2010, DOI: 10.1111/j.1440-1789.2009.01094.x

  4. 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

  5. You have free access to this content
    Spinocerebellar ataxia type 6: Lessons from faithful knock-in mouse models

    Neurology and Clinical Neuroscience

    Volume 3, Issue 1, January 2015, Pages: 14–17, Kei Watase

    Article first published online : 28 NOV 2014, DOI: 10.1111/ncn3.137

  6. Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites

    Neuropathology and Applied Neurobiology

    Volume 35, Issue 5, October 2009, Pages: 515–527, K. Gierga, H. J. Schelhaas, E. R. Brunt, K. Seidel, W. Scherzed, R. Egensperger, R. A. I. De Vos, W. Den Dunnen, P. F. Ippel, E. Petrasch-Parwez, T. Deller, L. Schöls and U. Rüb

    Article first published online : 2 FEB 2009, DOI: 10.1111/j.1365-2990.2009.01015.x

  7. Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 portuguese ataxia families

    American Journal of Medical Genetics

    Volume 81, Issue 2, 28 March 1998, Pages: 134–138, I. Silveira, P. Coutinho, P. Maciel, C. Gaspar, S. Hayes, A. Dias, J. Guimarães, L. Loureiro, J. Sequeiros and G.A. Rouleau

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980328)81:2<134::AID-AJMG3>3.0.CO;2-W

  8. CAG repeat expansions in patients with sporadic cerebellar ataxia

    Acta Neurologica Scandinavica

    Volume 98, Issue 1, July 1998, Pages: 55–59, N. Futamura, R. Matsumura, Y. Fujimoto, H. Horikawa, A. Suzumura and T. Takayanagi

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1998.tb07378.x

  9. Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6

    Acta Neurologica Scandinavica

    Volume 99, Issue 1, January 1999, Pages: 43–47, J. Arpa, A. Cuesta, A. Cruz-Martínez, S. Santiago, J. Sarriá and F. Palau

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1999.tb00656.x

  10. 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

  11. Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?

    Annals of Neurology

    Volume 42, Issue 6, December 1997, Pages: 924–932, Dr. Ludger Schöls, Georgios Amoiridis, Thomas Büttner, Horst Przuntek, Jörg T. Epplen and Olaf Riess

    Article first published online : 8 OCT 2004, DOI: 10.1002/ana.410420615

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    Toxicity and Endocytosis of Spinocerebellar Ataxia Type 6 Polyglutamine Domains: Role of Myosin IIB

    Traffic

    Volume 9, Issue 7, July 2008, Pages: 1088–1100, Béatrice Marquèze-Pouey, Nicole Martin-Moutot, Marie Sakkou-Norton, Christian Lévêque, Yong Ji, Véronique Cornet, Wendy L. Hsiao and Michael Seagar

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1600-0854.2008.00743.x

  13. Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

    Clinical Genetics

    Volume 53, Issue 1, January 1998, Pages: 13–19, Hidetaka Watanabe, Fumiaki Tanaka, Michiyo Matsumoto, Manabu Doyu, Tetsuo Ando, Terunori Mitsuma and Gen Sobue

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1998.tb02575.x

  14. Spinocerebellar ataxia type 6 in relation to CAG repeat length

    Acta Neurologica Scandinavica

    Volume 99, Issue 4, April 1999, Pages: 209–212, Y. Kaseda, H. Kawakami, Z. Matsuyama, R. Kumagai, M. Toji, O. Komure, M. Nishimura, Y. Izumi, F. Udaka, M. Kameyama, T. Nishio, N. Sunohara, Y. Kuroda and S. Nakamura

    Article first published online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1999.tb07348.x

  15. Spinocerebellar Ataxias

    Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, Second Edition

    Hidehiro Mizusawa, H. Brent Clark, Arnulf H. Koeppen, Pages: 273–287, 2011

    Published Online : 21 SEP 2011, DOI: 10.1002/9781444341256.ch27

  16. Clinical Aspects of CAG Repeat Diseases

    Brain Pathology

    Volume 7, Issue 3, July 1997, Pages: 881–900, Martha A. Nance

    Article first published online : 28 JAN 2008, DOI: 10.1111/j.1750-3639.1997.tb00892.x

  17. Ocular motor characteristics of different subtypes of spinocerebellar ataxia: Distinguishing features

    Movement Disorders

    Volume 28, Issue 9, August 2013, Pages: 1271–1277, Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae-Won Seo, Yuri Jeong, Ji-Hoon Kang, Jeong Ho Park and Jin Whan Cho

    Article first published online : 22 APR 2013, DOI: 10.1002/mds.25464

  18. 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

  19. Flattened facial colliculus on magnetic resonance imaging in Machado–Joseph disease

    Movement Disorders

    Volume 27, Issue 8, July 2012, Pages: 1041–1046, Yoshitsugu Ogawa, Shoichi Ito, Takahiro Makino, Kazuaki Kanai, Kimihito Arai and Satoshi Kuwabara

    Article first published online : 12 JUN 2012, DOI: 10.1002/mds.25060

  20. Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7

    Neuropathology and Applied Neurobiology

    Volume 32, Issue 6, December 2006, Pages: 635–649, U. Rüb, E. R. Brunt, E. Petrasch-Parwez, L. Schöls, D. Theegarten, G. Auburger, K. Seidel, C. Schultz, K. Gierga, H. Paulson, C. Van Broeckhoven, T. Deller and R. A. I. De Vos

    Article first published online : 8 AUG 2006, DOI: 10.1111/j.1365-2990.2006.00772.x