Search Results

There are 32273 results for: content related to: SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

  1. 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

  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. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giovanni Stevanin

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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 1, 15 February 2005, Pages: 13–17, Hiroshi Iwanaga, Akira Tsujino, Susumu Shirabe, Hiroto Eguchi, Naomi Fukushima, Norio Niikawa, Koh-ichiro Yoshiura and Katsumi Eguchi

    Version of Record online : 6 JAN 2005, DOI: 10.1002/ajmg.a.30510

  10. A founder mutation p.H701P identified as a major cause of SPG7 in Norway

    European Journal of Neurology

    Volume 23, Issue 4, April 2016, Pages: 763–771, S. L. Rydning, I. M. Wedding, J. Koht, M. Chawla, A.-M. Øye, Y. Sheng, M. D. Vigeland, K. K. Selmer and C. M. E. Tallaksen

    Version of Record online : 12 JAN 2016, DOI: 10.1111/ene.12937

  11. 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

  12. Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families

    Acta Neurologica Scandinavica

    Volume 119, Issue 2, February 2009, Pages: 113–118, J. L. Loureiro, L. Miller-Fleming, C. Thieleke-Matos, P. Magalhães, V. T. Cruz, P. Coutinho, J. Sequeiros and I. Silveira

    Version of Record online : 29 JUL 2008, DOI: 10.1111/j.1600-0404.2008.01074.x

  13. 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

  14. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5

    European Journal of Neurology

    Volume 22, Issue 1, January 2015, Pages: 211–214, M.-Y. Lan, T.-H. Yeh, Y.-Y. Chang, H.-C. Kuo, H. S. Sun, S.-C. Lai and C.-S. Lu

    Version of Record online : 18 MAR 2014, DOI: 10.1111/ene.12407

  15. You have free access to this content
    Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

    Human Mutation

    Volume 23, Issue 1, January 2004, Page: 98, S.M. Sauter, W. Engel, L.M. Neumann, J. Kunze and J. Neesen

    Version of Record online : 19 DEC 2003, DOI: 10.1002/humu.9205

  16. 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

  17. CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A

    Acta Neurologica Scandinavica

    Volume 129, Issue 5, May 2014, Pages: 330–334, P. Roos, K. Svenstrup, E. R. Danielsen, C. Thomsen and J. E. Nielsen

    Version of Record online : 1 OCT 2013, DOI: 10.1111/ane.12188

  18. 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

  19. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

    Annals of Neurology

    Volume 79, Issue 4, April 2016, Pages: 646–658, Rebecca Schüle, Sarah Wiethoff, Peter Martus, Kathrin N. Karle, Susanne Otto, Stephan Klebe, Sven Klimpe, Constanze Gallenmüller, Delia Kurzwelly, Dorothea Henkel, Florian Rimmele, Henning Stolze, Zacharias Kohl, Jan Kassubek, Thomas Klockgether, Stefan Vielhaber, Christoph Kamm, Thomas Klopstock, Peter Bauer, Stephan Züchner, Inga Liepelt-Scarfone and Ludger Schöls

    Version of Record online : 11 MAR 2016, DOI: 10.1002/ana.24611

  20. 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