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There are 690329 results for: content related to: Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum

  1. You have full text access to this OnlineOpen article
    GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model

    Annals of Neurology

    Volume 79, Issue 5, May 2016, Pages: 826–840, Himanshu K. Mishra, Iryna Prots, Steven Havlicek, Zacharias Kohl, Francesc Perez-Branguli, Tom Boerstler, Lukas Anneser, Georgia Minakaki, Holger Wend, Martin Hampl, Marina Leone, Martina Brückner, Jochen Klucken, Andre Reis, Leah Boyer, Gerhard Schuierer, Jürgen Behrens, Angelika Lampert, Felix B. Engel, Fred H. Gage, Jürgen Winkler and Beate Winner

    Version of Record online : 6 MAY 2016, DOI: 10.1002/ana.24633

  2. 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

    Version of Record online : 4 FEB 2009, DOI: 10.1002/ajmg.b.30928

  3. 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

  4. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 154–158, C. Bettencourt, J.L. López-Sendón, J. García-Caldentey, P. Rizzu, I.M.C. Bakker, O. Shomroni, B. Quintáns, J.R. Dávila, M.R. Bevova, M.-J. Sobrido, P. Heutink and J.G. de Yébenes

    Version of Record online : 25 MAR 2013, DOI: 10.1111/cge.12133

  5. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

    Human Mutation

    Sven Günther, Ewelina Elert-Dobkowska, Anne S. Soehn, Sophie Hinreiner, Grace Yoon, Raoul Heller, Yorck Hellenbroich, Christian A. Hübner, Peter N. Ray, Ute Hehr, Peter Bauer, Anna Sulek and Christian Beetz

    Version of Record online : 28 APR 2016, DOI: 10.1002/humu.23000

  6. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

    European Journal of Neurology

    Volume 16, Issue 1, January 2009, Pages: 121–126, T. Pippucci, E. Panza, E. Pompilii, V. Donadio, A. Borreca, C. Babalini, C. Patrono, R. Zuntini, T. Kawarai, G. Bernardi, R. Liguori, G. Romeo, P. Montagna, A. Orlacchio and M. Seri

    Version of Record online : 12 NOV 2008, DOI: 10.1111/j.1468-1331.2008.02367.x

  7. SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia

    Movement Disorders Clinical Practice

    Volume 2, Issue 2, June 2015, Pages: 149–154, Subhashie Wijemanne, Joshua M. Shulman, Joohi Jimenez-Shahed, Daniel Curry and Joseph Jankovic

    Version of Record online : 28 APR 2015, DOI: 10.1002/mdc3.12144

  8. You have full text access to this OnlineOpen article
    Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

    Annals of Clinical and Translational Neurology

    Volume 1, Issue 6, June 2014, Pages: 379–389, Benoît Renvoisé, Jaerak Chang, Rajat Singh, Sayuri Yonekawa, Edmond J. FitzGibbon, Ami Mankodi, Adeline Vanderver, Alice B. Schindler, Camilo Toro, William A. Gahl, Don J. Mahuran, Craig Blackstone and Tyler Mark Pierson

    Version of Record online : 20 MAY 2014, DOI: 10.1002/acn3.64

  9. 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

  10. Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

    Movement Disorders

    Volume 26, Issue 3, 15 February 2011, Pages: 553–556, Arianna Guidubaldi, Carla Piano, Filippo M. Santorelli, Gabriella Silvestri, Martina Petracca, Alessandra Tessa and Anna Rita Bentivoglio

    Version of Record online : 4 MAR 2011, DOI: 10.1002/mds.23552

  11. You have free access to this content
    Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia

    Traffic

    Volume 14, Issue 2, February 2013, Pages: 153–164, Jennifer Hirst, Carol Irving and Georg H.H. Borner

    Version of Record online : 7 DEC 2012, DOI: 10.1111/tra.12028

  12. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giovanni Stevanin

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

  13. SPG11 – the most common type of recessive spastic paraplegia in Norway?

    Acta Neurologica Scandinavica

    Volume 117, Issue s188, May 2008, Pages: 46–50, A. K. Erichsen, G. Stevanin, P. Denora, A. Brice and C. M. E. Tallaksen

    Version of Record online : 24 APR 2008, DOI: 10.1111/j.1600-0404.2008.01031.x

  14. SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 85–89, X. Liao, Y. Luo, Z. Zhan, J. Du, Z. Hu, J. Wang, J. Guo, Z. Hu, X. Yan, Q. Pan, K. Xia, B. Tang and L. Shen

    Version of Record online : 26 JAN 2014, DOI: 10.1111/cge.12336

  15. Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

    European Journal of Neurology

    Volume 15, Issue 10, October 2008, Pages: 1065–1070, C. Paisan-Ruiz, P. Nath, N. W. Wood, A. Singleton and H. Houlden

    Version of Record online : 20 AUG 2008, DOI: 10.1111/j.1468-1331.2008.02247.x

  16. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

    Annals of Neurology

    Volume 62, Issue 6, December 2007, Pages: 656–665, Ute Hehr, Peter Bauer, Beate Winner, Rebecca Schule, Akguen Olmez, Wolfgang Koehler, Goekhan Uyanik, Anna Engel, Daniela Lenz, Andrea Seibel, Andreas Hehr, Sonja Ploetz, Josep Gamez, Arndt Rolfs, Joachim Weis, Thomas M. Ringer, Michael Bonin, Gerhard Schuierer, Joerg Marienhagen, Ulrich Bogdahn, Bernhard H. F. Weber, Haluk Topaloglu, Ludger Schols, Olaf Riess and Juergen Winkler

    Version of Record online : 7 DEC 2007, DOI: 10.1002/ana.21310

  17. Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation

    European Journal of Neurology

    Volume 19, Issue 1, January 2012, Pages: e7–e8, W. T. Yoon, W. Y. Lee, S.-T. Lee, J. Y. Ahn, C.-S. Ki and J. W. Cho

    Version of Record online : 19 DEC 2011, DOI: 10.1111/j.1468-1331.2011.03569.x

  18. Immunohistochemical localization of spatacsin in α-synucleinopathies

    Neuropathology

    Volume 34, Issue 2, April 2014, Pages: 135–139, Satoshi Kuru, Mari Yoshida, Shinsui Tatsumi and Maya Mimuro

    Version of Record online : 22 SEP 2013, DOI: 10.1111/neup.12069

  19. You have free access to this content
    Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1315–1323, Conceição Bettencourt, Beatriz Quintáns, Raquel Ros, Israel Ampuero, Zuleima Yáñez, Samuel Ignacio Pascual, Justo García de Yébenes and María-Jesús Sobrido

    Version of Record online : 16 JUL 2012, DOI: 10.1002/humu.22148

  20. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

    Clinical Genetics

    Volume 81, Issue 2, February 2012, Pages: 150–157, A Arnoldi, C Crimella, E Tenderini, A Martinuzzi, MG D'Angelo, O Musumeci, A Toscano, M Scarlato, M Fantin, N Bresolin and MT Bassi

    Version of Record online : 31 JAN 2011, DOI: 10.1111/j.1399-0004.2011.01624.x