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There are 41743 results for: content related to: Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

  1. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    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. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 257–262, E Sánchez-Ferrero, E Coto, C Beetz, J Gámez, AI Corao, M Díaz, J Esteban, E del Castillo, G Moris, J Infante, M Menéndez, SI Pascual-Pascual, A López de Munaín, MJ Garcia-Barcina and V Alvarez

    Version of Record online : 21 MAY 2012, DOI: 10.1111/j.1399-0004.2012.01896.x

  4. 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

  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

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

  6. 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

  7. 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

  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. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

    American Journal of Medical Genetics

    Volume 92, Issue 2, 15 May 2000, Pages: 122–127, P. Rocco, M. Vainzof, S.C. Froehner, M.F. Peters, S.K.N. Marie, M.R. Passos-Bueno and M. Zatz

    Version of Record online : 25 APR 2000, DOI: 10.1002/(SICI)1096-8628(20000515)92:2<122::AID-AJMG8>3.0.CO;2-B

  10. Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

    Movement Disorders

    Volume 21, Issue 2, February 2006, Pages: 279–281, Renato P. Munhoz, Toshitaka Kawarai, Helio A. Teive, Salmo Raskin, Christine Sato, Yan Liang, Peter H. St. George-Hyslop and Ekaterina Rogaeva

    Version of Record online : 2 NOV 2005, DOI: 10.1002/mds.20775

  11. 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

  12. 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

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    The hereditary spastic paraplegia protein spartin localises to mitochondria

    Journal of Neurochemistry

    Volume 98, Issue 6, September 2006, Pages: 1908–1919, JianPing Lu, Faiza Rashid and Paula C. Byrne

    Version of Record online : 24 JUL 2006, DOI: 10.1111/j.1471-4159.2006.04008.x

  14. 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

    Version of Record online : 9 SEP 2011, DOI: 10.1002/humu.21542

  15. 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

  16. 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

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    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

  18. 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

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    Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

    STEM CELLS

    Volume 32, Issue 2, February 2014, Pages: 414–423, Kyle R. Denton, Ling Lei, Jeremy Grenier, Vladimir Rodionov, Craig Blackstone and Xue-Jun Li

    Version of Record online : 13 JAN 2014, DOI: 10.1002/stem.1569

  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