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There are 6591 results for: content related to: Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

  1. You have free access to this content
    EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

    European Journal of Neurology

    Volume 17, Issue 2, February 2010, Pages: 179–188, T. Gasser, J. Finsterer, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schöls, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C.M.E. Tallaksen, M. Zeviani, J-M. Burgunder and H. F. Harbo

    Version of Record online : 28 DEC 2009, DOI: 10.1111/j.1468-1331.2009.02873.x

  2. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

    Movement Disorders

    Volume 31, Issue 4, April 2016, Pages: 436–457, Connie Marras, Anthony Lang, Bart P. van de Warrenburg, Carolyn M. Sue, Sarah J. Tabrizi, Lars Bertram, Saadet Mercimek-Mahmutoglu, Darius Ebrahimi-Fakhari, Thomas T. Warner, Alexandra Durr, Birgit Assmann, Katja Lohmann, Vladimir Kostic and Christine Klein

    Version of Record online : 15 APR 2016, DOI: 10.1002/mds.26527

  3. Identification of a new form of autosomal dominant spastic paraplegia

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 113–116, SH Subramony, TV Nguyen, L Langford, X Lin, AD Parent and J Zhang

    Version of Record online : 9 JUN 2009, DOI: 10.1111/j.1399-0004.2008.01122.x

  4. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giovanni Stevanin

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0022419

  5. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giuseppe Novelli and Gianmarco Contino

    Published Online : 15 SEP 2009, DOI: 10.1002/9780470015902.a0021451

  6. Clinical Aspects of CAG Repeat Diseases

    Brain Pathology

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

    Version of Record online : 28 JAN 2008, DOI: 10.1111/j.1750-3639.1997.tb00892.x

  7. Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat

    Annals of Neurology

    Volume 37, Issue 6, June 1995, Pages: 769–775, Takeshi Ikeuchi, Reiji Koide, Hajime Tanaka, Osamu Onodera, Shuichi Igarashi, Hitoshi Takahashi, Rui Kondo, Atsushi Ishikawa, Akemi Tomoda, Teruhisa Miike, Keiko Sato, Yuetsu Ihara, Toshiyuki Hayabara, Fumiko Isa, Hitoshi Tanabe, Susumu Tokiguchi, Masataka Hayashi, Natsue Shimizu, Fusahiro Ikuta, Haruhiko Naito and Dr Shoji Tsuji

    Version of Record online : 8 OCT 2004, DOI: 10.1002/ana.410370610

  8. Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 144B, Issue 7, 5 October 2007, Pages: 854–861, Stephan Klebe, Alexandra Durr, Naima Bouslam, Djamel Grid, Caroline Paternotte, Christel Depienne, Sylvain Hanein, Ahmed Bouhouche, Nizar Elleuch, Hamid Azzedine, Sandrine Poea-Guyon, Sylvie Forlani, Elodie Denis, Céline Charon, Jamile Hazan, Prof. Alexis Brice and Giovanni Stevanin

    Version of Record online : 14 MAY 2007, DOI: 10.1002/ajmg.b.30518

  9. Effect of glycerol on thermal and mechanical properties of polyvinyl alcohol/starch blends

    Journal of Applied Polymer Science

    Volume 123, Issue 1, 5 January 2012, Pages: 135–142, P. A. Sreekumar, Mamdouh A. Al-Harthi and S. K. De

    Version of Record online : 26 JUL 2011, DOI: 10.1002/app.34465

  10. 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

    Version of Record online : 31 MAY 2002, DOI: 10.1002/ajmg.10514

  11. An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models

    Movement Disorders Clinical Practice

    Volume 2, Issue 3, September 2015, Pages: 213–223, Kishore R. Kumar, Nicholas F. Blair and Carolyn M. Sue

    Version of Record online : 2 JUN 2015, DOI: 10.1002/mdc3.12184

  12. Dentatorubral-Pallidoluysian Atrophy

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

    Hitoshi Takahashi, Mitsunori Yamada, Shoji Tsuji, Pages: 299–306, 2011

    Published Online : 21 SEP 2011, DOI: 10.1002/9781444341256.ch29

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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

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    Dentatorubral-pallidoluysian atrophy (DRPLA)

    Neuropathology

    Volume 30, Issue 5, October 2010, Pages: 453–457, Mitsunori Yamada

    Version of Record online : 24 MAY 2010, DOI: 10.1111/j.1440-1789.2010.01120.x

  15. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

    Clinical Genetics

    Volume 80, Issue 2, August 2011, Pages: 148–160, NA Schlipf, R Schüle, S Klimpe, KN Karle, M Synofzik, J Schicks, O Riess, L Schöls and P Bauer

    Version of Record online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01715.x

  16. Hereditary spastic paraplegia: The pace quickens

    Annals of Neurology

    Volume 51, Issue 6, June 2002, Pages: 669–672, John K. Fink

    Version of Record online : 21 MAY 2002, DOI: 10.1002/ana.10258

  17. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study

    Acta Neurologica Scandinavica

    Volume 89, Issue S153, April 1994, Pages: 1–22, K. Hirayama, T. Takayanagi, R. Nakamura, N. Yanagisawa, T. Hattori, K. Kita, S. Yanagimoto, M. Fujita, M. Nagaoka, Y. Satomura, I. Sobue, R. Iizuka, Y. Toyokura, E. Satoyoshi and Keizo Hirayama

    Version of Record online : 29 JAN 2009, DOI: 10.1111/j.1600-0404.1994.tb05401.x

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    Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

    Movement Disorders

    Volume 32, Issue 3, March 2017, Pages: 332–345, Matthis Synofzik and Rebecca Schüle

    Version of Record online : 14 FEB 2017, DOI: 10.1002/mds.26944

  19. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

    Clinical Genetics

    Volume 75, Issue 6, June 2009, Pages: 527–536, A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, MI Miladi, C Goizet, J Truchetto, S Belal, A Brice and C Mhiri

    Version of Record online : 5 MAY 2009, DOI: 10.1111/j.1399-0004.2009.01176.x

  20. Glyceraldehyde 3-phosphate dehydrogenase and endothelin-1 immunoreactivity is associated with cerebral white matter damage in dentatorubral–pallidoluysian atrophy

    Neuropathology

    Volume 23, Issue 1, March 2003, Pages: 36–43, Masaki Shiozawa, Yuken Fukutani, Nobutaka Arai, Nigel J Cairns, Toshio Mizutani, Kiminori Isaki, Peter L Lantos and Yuji Wada

    Version of Record online : 10 MAR 2003, DOI: 10.1046/j.1440-1789.2003.00480.x