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There are 4318 results for: content related to: Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)

  1. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

    Movement Disorders

    Volume 23, Issue 15, 15 November 2008, Pages: 2232–2238, Christoph Globas, Sophie Tezenas du Montcel, Laslo Baliko, Syliva Boesch, Chantal Depondt, Stefano DiDonato, Alexandra Durr, Alessandro Filla, Thomas Klockgether, Caterina Mariotti, Bela Melegh, Maryla Rakowicz, Pascale Ribai, Rafal Rola, Tanja Schmitz-Hubsch, Sandra Szymanski, Dagmar Timmann, Bart P. Van de Warrenburg, Peter Bauer and Ludger Schols

    Article first published online : 29 AUG 2008, DOI: 10.1002/mds.22288

  2. Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism

    Annals of Neurology

    Volume 52, Issue 2, August 2002, Pages: 257–258, Norman Kock, Birgitt Müller, Peter Vieregge, Peter P. Pramstaller, Karen Marder, Giovanni Abbruzzese, Paolo Martinelli, Anthony E. Lang, Helfried Jacobs, Johann Hagenah, Juliette Harris, Helen Meija-Santana, Stanley Fahn, Katja Hedrich, Martin Kann, Ulrike Gehlken, Biljana Culjkovic, Eberhard Schwinger, Zbigniew K. Wszolek, Christine Zühlke and Christine Klein

    Article first published online : 23 JUL 2002, DOI: 10.1002/ana.10270

  3. Identification and characterization of the mammalian association and actin-nucleating domains in the Rickettsia conorii autotransporter protein, Sca2

    Cellular Microbiology

    Volume 14, Issue 9, September 2012, Pages: 1485–1495, Marissa M. Cardwell and Juan J. Martinez

    Article first published online : 5 JUN 2012, DOI: 10.1111/j.1462-5822.2012.01815.x

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    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

  5. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

    Human Mutation

    Volume 31, Issue 10, October 2010, Pages: 1117–1124, Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribai, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr and Alfredo Brusco

    Article first published online : 7 SEP 2010, DOI: 10.1002/humu.21342

  6. Stem cell antigen 2: a new gene involved in the self-renewal of erythroid progenitors

    Cell Proliferation

    Volume 41, Issue 5, October 2008, Pages: 726–738, C. Bresson-Mazet, O. Gandrillon and S. Gonin-Giraud

    Article first published online : 10 SEP 2008, DOI: 10.1111/j.1365-2184.2008.00554.x

  7. Depression comorbidity in spinocerebellar ataxia

    Movement Disorders

    Volume 26, Issue 5, April 2011, Pages: 870–876, Tanja Schmitz-Hübsch, Mathieu Coudert, Sophie Tezenas du Montcel, Paola Giunti, Robyn Labrum, Alexandra Dürr, Pascale Ribai, Perrine Charles, Christoph Linnemann, Ludger Schöls, Maryla Rakowicz, Rafal Rola, Elszbieta Zdzienicka, Roberto Fancellu, Caterina Mariotti, Lazlo Baliko, Bela Melegh, Alessandro Filla, Elena Salvatore, Bart P.C. van de Warrenburg, Sandra Szymanski, Jon Infante, Dagmar Timmann, Sylvia Boesch, Chantal Depondt, Jun-Suk Kang, Jörg B. Schulz, Thomas Klopstock, Nicole Lossnitzer, Bernd Löwe, Caroline Frick, Daniela Rottländer, Thomas E. Schlaepfer and Thomas Klockgether

    Article first published online : 21 MAR 2011, DOI: 10.1002/mds.23698

  8. Mutations in KCND3 cause spinocerebellar ataxia type 22

    Annals of Neurology

    Volume 72, Issue 6, December 2012, Pages: 859–869, Yi-Chung Lee, Alexandra Durr, Karen Majczenko, Yen-Hua Huang, Yu-Chao Liu, Cheng-Chang Lien, Pei-Chien Tsai, Yaeko Ichikawa, Jun Goto, Marie-Lorraine Monin, Jun Z. Li, Ming-Yi Chung, Emeline Mundwiller, Vikram Shakkottai, Tze-Tze Liu, Christelle Tesson, Yi-Chun Lu, Alexis Brice, Shoji Tsuji, Margit Burmeister, Giovanni Stevanin and Bing-Wen Soong

    Article first published online : 31 DEC 2012, DOI: 10.1002/ana.23701

  9. Self-rated health status in spinocerebellar ataxia—Results from a European multicenter study

    Movement Disorders

    Volume 25, Issue 5, 15 April 2010, Pages: 587–595, Tanja Schmitz-Hübsch, Mathieu Coudert, Paola Giunti, Christoph Globas, Laszlo Baliko, Roberto Fancellu, Caterina Mariotti, Alessandro Filla, Maryla Rakowicz, Perrine Charles, Pascale Ribai, Sandra Szymanski, Jon Infante, Bart P.C. van de Warrenburg, Alexandra Dürr, Dagmar Timmann, Sylvia Boesch, Rafal Rola, Chantal Depondt, Ludger Schöls, Elszbieta Zdzienicka, Jun-Suk Kang, Susanne Ratzka, Berry Kremer, Jörg B. Schulz, Thomas Klopstock, Bela Melegh, Sophie Tezenas du Montcel and Thomas Klockgether

    Article first published online : 19 FEB 2010, DOI: 10.1002/mds.22740

  10. Extended pathoanatomical studies point to a consistent affection of the thalamus in spinocerebellar ataxia type 2

    Neuropathology and Applied Neurobiology

    Volume 31, Issue 2, April 2005, Pages: 127–140, U. Rüb, D. Del Turco, K. Bürk, G. Orozco Diaz, G. Auburger, M. Mittelbronn, K. Gierga, E. Ghebremedhin, C. Schultz, L. Schöls, J. Bohl, H. Braak and T. Deller

    Article first published online : 11 NOV 2004, DOI: 10.1111/j.1365-2990.2004.00617.x

  11. Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7

    American Journal of Medical Genetics

    Volume 110, Issue 4, 15 July 2002, Pages: 338–345, Rong Mao, Arthur S. Aylsworth, Nicholas Potter, William G. Wilson, Galen Breningstall, Myra J. Wick, Dusica Babovic-Vuksanovic, Martha Nance, Marc C. Patterson, Christopher M. Gomez and Karen Snow

    Article first published online : 9 MAY 2002, DOI: 10.1002/ajmg.10467

  12. Differentiation of SCA2 from MSA-C using proton magnetic resonance spectroscopic imaging

    Journal of Magnetic Resonance Imaging

    Volume 25, Issue 3, March 2007, Pages: 564–569, Sylvia M. Boesch, Christian Wolf, Klaus Seppi, Stephan Felber, Gregor K. Wenning and Michael Schocke

    Article first published online : 26 FEB 2007, DOI: 10.1002/jmri.20846

  13. Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2)

    Neuropathology and Applied Neurobiology

    Volume 39, Issue 6, October 2013, Pages: 634–643, U. Rüb, K. Farrag, K. Seidel, E. R. Brunt, H. Heinsen, K. Bürk, B. Melegh, C. von Gall, G. Auburger, J. Bohl, H. W. Korf, F. Hoche and W. den Dunnen

    Article first published online : 9 SEP 2013, DOI: 10.1111/nan.12025

  14. Movement disorders in spinocerebellar ataxias

    Movement Disorders

    Volume 26, Issue 5, April 2011, Pages: 792–800, Judith van Gaalen, Paola Giunti and Bart P. van de Warrenburg

    Article first published online : 2 MAR 2011, DOI: 10.1002/mds.23584

  15. Neuropathological Staging of Spinocerebellar Ataxia Type 2 by Semiquantitative 1C2-Positive Neuron Typing. Nuclear Translocation of Cytoplasmic 1C2 Underlies Disease Progression of Spinocerebellar Ataxia Type 2

    Brain Pathology

    Shigeru Koyano, Saburo Yagishita, Yoshiyuki Kuroiwa, Fumiaki Tanaka and Toshiki Uchihara

    Article first published online : 28 MAY 2014, DOI: 10.1111/bpa.12146

  16. Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7)

    Neuropathology and Applied Neurobiology

    Volume 34, Issue 5, October 2008, Pages: 479–491, F. Hoche, K. Seidel, E. R. Brunt, G. Auburger, L. Schöls, K. Bürk, R. A. De Vos, W. Den Dunnen, I. Bechmann, R. Egensperger, C. Van Broeckhoven, K. Gierga, T. Deller and U. Rüb

    Article first published online : 24 JAN 2008, DOI: 10.1111/j.1365-2990.2007.00933.x

  17. Abnormalities of dopaminergic neurotransmission in SCA2: A combined 123I-βCIT and 123I-IBZM SPECT study

    Movement Disorders

    Volume 19, Issue 11, November 2004, Pages: 1320–1325, Sylvia M. Boesch, Eveline Donnemiller, Jörg Müller, Klaus Seppi, Helga Weirich-Schwaiger, Werner Poewe and Gregor K. Wenning

    Article first published online : 26 MAY 2004, DOI: 10.1002/mds.20159

  18. 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

  19. An autopsy case of an aged patient with spinocerebellar ataxia type 2

    Neuropathology

    Volume 31, Issue 5, October 2011, Pages: 510–518, Chiho Ishida, Kiyonobu Komai, Kohei Yonezawa, Ken-ichi Sakajiri, Eishun Nitta, Atsuhiro Kawashima and Masahito Yamada

    Article first published online : 6 DEC 2010, DOI: 10.1111/j.1440-1789.2010.01176.x

  20. Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

    Movement Disorders

    Volume 26, Issue 3, 15 February 2011, Pages: 534–538, Ellis Chan, Perrine Charles, Pascale Ribai, Cyril Goizet, Cecilia Marelli, Carlo-Maria Vincitorio, Alice Le Bayon, Lucie Guyant-Maréchal, Nadia Vandenberghe, Mathieu Anheim, David Devos, Leorah Freeman, Isabelle Le Ber, Karine N'Guyen, Maya Tchikviladzé, Pierre Labauge, Didier Hannequin, Alexis Brice, Alexandra Durr and Sophie Tezenas du Montcel

    Article first published online : 1 FEB 2011, DOI: 10.1002/mds.23531