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There are 3349 results for: content related to: Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia

  1. Placebo effect characteristics observed in a single, international, longitudinal study in Huntington's disease

    Movement Disorders

    Volume 27, Issue 3, March 2012, Pages: 439–442, Esther Cubo, Miguel González, Inés del Puerto, Justo Garcia de Yébenes, Olga Fernández Arconada, José María Trejo Gabriel y Galán and on behalf of the European Huntington's Disease Initiative Study Group

    Version of Record online : 9 DEC 2011, DOI: 10.1002/mds.24062

  2. Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial

    Movement Disorders

    Volume 27, Issue 3, March 2012, Pages: 446–449, Caterina Mariotti, Roberto Fancellu, Serena Caldarazzo, Lorenzo Nanetti, Daniela Di Bella, Massimo Plumari, Giuseppe Lauria, Maria D. Cappellini, Lorena Duca, Alessandra Solari and Franco Taroni

    Version of Record online : 4 JAN 2012, DOI: 10.1002/mds.24066

  3. You have free access to this content
    Increased expression of Syne1/nesprin-1 facilitates nuclear envelope structure changes in embryonic stem cell differentiation

    Developmental Dynamics

    Volume 240, Issue 10, October 2011, Pages: 2245–2255, Elizabeth R. Smith, Xiao-Ying Zhang, Callinice D. Capo-Chichi, Xiongwen Chen and Xiang-Xi Xu

    Version of Record online : 23 AUG 2011, DOI: 10.1002/dvdy.22717

  4. Stereoselective Reduction of 1-O-Isopropyloxygenipin Enhances Its Neuroprotective Activity in Neuronal Cells from Apoptosis Induced by Sodium Nitroprusside

    ChemMedChem

    Volume 9, Issue 7, July 2014, Pages: 1397–1401, Rikang Wang, Jian Yang, Sufen Liao, Gaokeng Xiao, Jun Luo, Lang Zhang, Peter J. Little, Prof. Heru Chen and Prof. Wenhua Zheng

    Version of Record online : 6 APR 2014, DOI: 10.1002/cmdc.201400051

  5. Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses

    Animal Genetics

    Volume 45, Issue 3, June 2014, Pages: 392–399, K. L. Fritz, H. J. Kaese, S. J. Valberg, J. A. Hendrickson, A. K. Rendahl, R. R. Bellone, K. M. Dynes, M. L. Wagner, M. A. Lucio, F. M. Cuomo, C. L. Brinkmeyer-Langford, L. C. Skow, J. R. Mickelson, M. S. Rutherford and M. E. McCue

    Version of Record online : 28 JAN 2014, DOI: 10.1111/age.12129

  6. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

    Clinical Genetics

    Volume 88, Issue 2, August 2015, Pages: 177–181, A.M. Fedick, L. Shi, C. Jalas, N.R. Treff, J. Ekstein, R. Kornreich, L. Edelmann, L. Mehta and S.A. Savage

    Version of Record online : 5 SEP 2014, DOI: 10.1111/cge.12459

  7. SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients

    Movement Disorders

    Maria Thereza Drumond Gama, Gabrielle Houle, Anne Noreau, Alexandre Dionne-Laporte, Patrick A. Dion, Guy A. Rouleau, Orlando G.P. Barsottini and José Luiz Pedroso

    Version of Record online : 27 SEP 2016, DOI: 10.1002/mds.26810

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    Evidence for two independent functional variants for androgenetic alopecia around the androgen receptor gene

    Experimental Dermatology

    Volume 19, Issue 11, November 2010, Pages: 1026–1028, Joanna E. Cobb, Sophie G. Zaloumis, Katrina J. Scurrah, Stephen B. Harrap and Justine A. Ellis

    Version of Record online : 7 SEP 2010, DOI: 10.1111/j.1600-0625.2010.01132.x

  9. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

    Annals of Neurology

    Volume 62, Issue 1, July 2007, Pages: 93–98, Nicolas Dupré, François Gros-Louis, Nicolas Chrestian, Steve Verreault, Denis Brunet, Danielle de Verteuil, Bernard Brais, Jean-Pierre Bouchard and Guy A. Rouleau

    Version of Record online : 14 MAY 2007, DOI: 10.1002/ana.21143

  10. Dominant muscular dystrophy with a novel SYNE1 gene mutation

    Muscle & Nerve

    Volume 51, Issue 1, January 2015, Pages: 145–147, Marina Fanin, Marco Savarese, Anna C. Nascimbeni, Giuseppina Di Fruscio, Ebe Pastorello, Elisabetta Tasca, Carlo P. Trevisan, Vincenzo Nigro and Corrado Angelini

    Version of Record online : 24 NOV 2014, DOI: 10.1002/mus.24357

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    Poster Session

    Movement Disorders

    Volume 31, Issue S2, June 2016, Pages: S1–S697,

    Version of Record online : 19 JUN 2016, DOI: 10.1002/mds.26688

  12. You have free access to this content
    Loss of Drop1 expression already at early tumor stages in a wide range of human carcinomas

    International Journal of Cancer

    Volume 123, Issue 9, 1 November 2008, Pages: 2048–2056, Alexander Marmé, Hans-Peter Zimmermann, Gerhard Moldenhauer, Marina Schorpp-Kistner, Claudia Müller, Olga Keberlein, Antje Giersch, Jürgen Kretschmer, Brigitte Seib, Eberhard Spiess, Andreas Hunziker, Faustino Merchán, Peter Möller, Uwe Hahn, Raffael Kurek, Frederik Marmé, Gunther Bastert, Diethelm Wallwiener and Herwig Ponstingl

    Version of Record online : 15 AUG 2008, DOI: 10.1002/ijc.23763

  13. You have full text access to this OnlineOpen article
    Germline miRNA DNA Variants and the Risk of Colorectal Cancer by Subtype

    Genes, Chromosomes and Cancer

    Accepted manuscript online: 16 SEP 2016, Noralane M. Lindor, Melissa C. Larson, Melissa S. DeRycke, Shannon K. McDonnell, Saurabh Baheti, Zachary C. Fogarty, Aung Ko Win, John D. Potter, Daniel D. Buchanan, Mark Clendenning, Polly A. Newcomb, Graham Casey, Steven Gallinger, Loïc Le Marchand, John L. Hopper, Mark A. Jenkins, Ellen L. Goode and Stephen N. Thibodeau

    DOI: 10.1002/gcc.22420

  14. Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1646–1653, Trilochan Sahoo, Aaron Theisen, Pedro A. Sanchez-Lara, Michael Marble, Daniela N. Schweitzer, Beth S. Torchia, Allen N. Lamb, Bassem A. Bejjani, Lisa G. Shaffer and Yves Lacassie

    Version of Record online : 10 JUN 2011, DOI: 10.1002/ajmg.a.34063

  15. Mutations within the spliceosomal gene SNRPB affect its auto-regulation and are causative for classic cerebro-costo-mandibular syndrome

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 32–33, Y.-L. Tay

    Version of Record online : 7 OCT 2014, DOI: 10.1111/cge.12495

  16. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 504–511, Guillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, Joris Andrieux, Aline Receveur, Astrid Weber, Una Maye, Nicola Foulds, IK Temple, John Crolla, Marie-Pierre Alex-Cordier, Damien Sanlaville, Lisa Ewans, Meredith Wilson, Ruth Armstrong, Amanda Clarkson, Henri Copin and Gilles Morin

    Version of Record online : 8 JAN 2015, DOI: 10.1002/ajmg.a.36882

  17. Molecular Genetics of Emery–Dreifuss Muscular Dystrophy

    Standard Article

    eLS

    Glenn E Morris, Caroline A Sewry and Manfred Wehnert

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0022438

  18. You have full text access to this OnlineOpen article
    Movers and shakers or anchored: Caenorhabditis elegans nuclei achieve it with KASH/SUN

    Developmental Dynamics

    Volume 239, Issue 5, May 2010, Pages: 1352–1364, Kang Zhou and Wendy Hanna-Rose

    Version of Record online : 27 JAN 2010, DOI: 10.1002/dvdy.22226

  19. The epidemiology of myasthenia gravis in Arab countries: A systematic review

    Muscle & Nerve

    Volume 51, Issue 1, January 2015, Pages: 144–145, Hani T.S. Benamer and Amin Bredan

    Version of Record online : 22 NOV 2014, DOI: 10.1002/mus.24350

  20. You have full text access to this OnlineOpen article
    Characterization of the genomic features and expressed fusion genes in micropapillary carcinomas of the breast

    The Journal of Pathology

    Volume 232, Issue 5, April 2014, Pages: 553–565, Rachael Natrajan, Paul M Wilkerson, Caterina Marchiò, Salvatore Piscuoglio, Charlotte KY Ng, Patty Wai, Maryou B Lambros, Eleftherios P Samartzis, Konstantin J Dedes, Jessica Frankum, Ilirjana Bajrami, Alicja Kopec, Alan Mackay, Roger A'hern, Kerry Fenwick, Iwanka Kozarewa, Jarle Hakas, Costas Mitsopoulos, David Hardisson, Christopher J Lord, Chandan Kumar-Sinha, Alan Ashworth, Britta Weigelt, Anna Sapino, Arul M Chinnaiyan, Christopher A Maher and Jorge S Reis-Filho

    Version of Record online : 5 FEB 2014, DOI: 10.1002/path.4325