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There are 3202 results for: content related to: Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

  1. Molecular Genetics of Hereditary Spastic Paraplegias

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    eLS

    Giovanni Stevanin

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

  2. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giuseppe Novelli and Gianmarco Contino

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

  3. 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

    Article first published online : 14 MAY 2007, DOI: 10.1002/ajmg.b.30518

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

    Movement Disorders Clinical Practice

    Kishore R. Kumar, Nicholas F. Blair and Carolyn M. Sue

    Article first published online : 2 JUN 2015, DOI: 10.1002/mdc3.12184

  5. 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

    Article first published online : 13 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01715.x

  6. 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

    Article first published online : 5 MAY 2009, DOI: 10.1111/j.1399-0004.2009.01176.x

  7. 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

    Article first published online : 28 DEC 2009, DOI: 10.1111/j.1468-1331.2009.02873.x

  8. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 7, 5 October 2009, Pages: 984–992, Hanna Örlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian, Per Söderberg, Magnus Påhlman, Niklas Darin, Mårten Kyllerman, Eva Holmberg, Henry Engler, Urban Eriksson and Niklas Dahl

    Article first published online : 4 FEB 2009, DOI: 10.1002/ajmg.b.30928

  9. PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 627–634, Christel Depienne and Eric LeGuern

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22029

  10. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: 1118–1127, Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean-François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon-Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric Leguern, Didier Lacombe, Alexandra Durr, Rodrigue Rossignol, Alexis Brice and Giovanni Stevanin

    Article first published online : 9 SEP 2011, DOI: 10.1002/humu.21542

  11. 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

  12. An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

    Brain Pathology

    Volume 8, Issue 4, October 1998, Pages: 669–679, Thorsten Schmidt, G. Bernhard Landwehrmeyer, Ina Schmitt, Yvon Trottier, Georg Auburger, Franco Laccone, Thomas Klockgether, Michael Völpel, Jörg T. Epplen, Ludger Schöls and Olaf Riess

    Article first published online : 5 APR 2006, DOI: 10.1111/j.1750-3639.1998.tb00193.x

  13. 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

  14. Absence of spinocerebellar ataxia type 3/Machado–Joseph disease within ataxic patients in the Czech population

    European Journal of Neurology

    Volume 12, Issue 11, November 2005, Pages: 851–857, P. O. Bauer, A. Zumrova, V. Matoska, T. Marikova, S. Krilova, A. Boday, B. Singh and P. Goetz

    Article first published online : 20 OCT 2005, DOI: 10.1111/j.1468-1331.2005.01090.x

  15. Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease

    Human Mutation

    Volume 11, Issue 1, 1998, Pages: 23–27, Géraldine Cancel, Isabelle Gourfinkel-An, Giovanni Stevanin, Olivier Didierjean, Nacer Abbas, Etienne Hirsch, Yves Agid and Alexis Brice

    Article first published online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1998)11:1<23::AID-HUMU4>3.0.CO;2-M

  16. Degeneration of the central vestibular system in spinocerebellar ataxia type 3 (SCA3) patients and its possible clinical significance

    Neuropathology and Applied Neurobiology

    Volume 30, Issue 4, August 2004, Pages: 402–414, U. Rüb, E. R. Brunt, R. A. I. De Vos, D. Del Turco, K. Del Tredici, K. Gierga, C. Schultz, E. Ghebremedhin, K. Bürk, G. Auburger and H. Braak

    Article first published online : 4 MAY 2004, DOI: 10.1111/j.1365-2990.2004.00554.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

  18. You have free access to this content
    Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

    Human Mutation

    Volume 30, Issue 2, February 2009, Pages: E376–E385, Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, Véronique Paquis, Christel Depienne, Alexandra Durr, Giovanni Stevanin and Alexis Brice

    Article first published online : 13 OCT 2008, DOI: 10.1002/humu.20920

  19. 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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    The SCN1A variant database: a novel research and diagnostic tool

    Human Mutation

    Volume 30, Issue 10, October 2009, Pages: E904–E920, Lieve RF Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova and Peter De Jonghe

    Article first published online : 7 JUL 2009, DOI: 10.1002/humu.21083