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There are 7872129 results for: content related to: Clinical and genetic study of a Brazilian family with spastic paraplegia ( SPG6 locus )

  1. 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

  2. Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

    Movement Disorders

    Volume 21, Issue 9, September 2006, Pages: 1531–1533, Satoshi Kaneko, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi-Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva and Peter St George-Hyslop

    Version of Record online : 22 JUN 2006, DOI: 10.1002/mds.21005

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    Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

    Human Mutation

    Volume 25, Issue 5, May 2005, Page: 506, Clarice Patrono, Valentina Scarano, Federica Cricchi, Mariarosa A. B. Melone, Maria Chiriaco, Alessandro Napolitano, Alessandro Malandrini, Giuseppe De Michele, Lucia Petrozzi, Carlo Giraldi, Lucio Santoro, Serena Servidei, Carlo Casali, Alessandro Filla and Filippo M. Santorelli

    Version of Record online : 19 APR 2005, DOI: 10.1002/humu.9340

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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

  5. 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

  6. 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

  7. 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

  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. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    Prenatal Diagnosis

    Volume 24, Issue 5, May 2004, Pages: 363–366, Jørgen E. Nielsen, Pernille Koefoed, Susanne Kjaergaard, Lisa Neerup Jensen, Anne Nørremølle and Lis Hasholt

    Version of Record online : 21 MAY 2004, DOI: 10.1002/pd.875

  10. 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

  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. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

    Annals of Neurology

    Volume 57, Issue 4, April 2005, Pages: 567–571, Naima Bouslam, Ali Benomar, Hamid Azzedine, Ahmed Bouhouche, Michito Namekawa, Stephan Klebe, Céline Charon, Alexandra Durr, Merle Ruberg, Alexis Brice, Mohamed Yahyaoui and Giovanni Stevanin

    Version of Record online : 22 MAR 2005, DOI: 10.1002/ana.20416

  13. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

    Human Mutation

    Volume 25, Issue 2, February 2005, Pages: 135–141, Suqin Chen, Chun Song, Hui Guo, Pingyi Xu, Weijun Huang, Yan Zhou, Jiandong Sun, Cai-Xia Li, Yong Du, Xunhua Li, Zhuolin Liu, Deqin Geng, Patrick H. Maxwell, Cheng Zhang and Yiming Wang

    Version of Record online : 10 JAN 2005, DOI: 10.1002/humu.20126

  14. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33–q34

    Annals of Neurology

    Volume 51, Issue 6, June 2002, Pages: 681–685, Enza Maria Valente, Francesco Brancati, Viviana Caputo, Enrico Bertini, Clarice Patrono, Danilo Costanti and Bruno Dallapiccola

    Version of Record online : 21 MAY 2002, DOI: 10.1002/ana.10204

  15. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1

    Annals of Neurology

    Volume 58, Issue 3, September 2005, Pages: 423–429, Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Peter H. St George-Hyslop, Roberto Floris and Giorgio Bernardi

    Version of Record online : 29 AUG 2005, DOI: 10.1002/ana.20590

  16. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giovanni Stevanin

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

  17. 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

  18. Clinical and genetic study of a large SPG4 Italian family

    Movement Disorders

    Volume 20, Issue 8, August 2005, Pages: 1055–1059, Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Antonio Totaro, Orazio Schillaci, Alessandro Stefani, Roberto Floris, Peter H. St. George-Hyslop, Sandro Sorbi and Giorgio Bernardi

    Version of Record online : 27 APR 2005, DOI: 10.1002/mds.20494

  19. Clinical and genetic study of a novel mutation in the REEP1 gene

    Synapse

    Volume 63, Issue 3, March 2009, Pages: 201–205, Shi Guo Liu, Feng Yuan Che, Xue Yuan Heng, Fei Feng Li, Shang Zhi Huang, De Guo Lu, Su Jun Hou, Shi En Liu, Qiang Wang, Hai Ping Wang and Xu Ma

    Version of Record online : 12 DEC 2008, DOI: 10.1002/syn.20602

  20. Molecular Genetics of Hereditary Spastic Paraplegias

    Standard Article

    eLS

    Giuseppe Novelli and Gianmarco Contino

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