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    Results: 1 to 20 of 259

    1.

    A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

    Mancuso G, Rugarli EI.

    BMC Biol. 2008 Jul 9;6:31.PMID: 18613979 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

    Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A.

    Eur J Hum Genet. 2000 Oct;8(10):771-6.PMID: 11039577 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

    Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA.

    Am J Hum Genet. 2001 May;68(5):1077-85. Epub 2001 Apr 16.PMID: 11309678 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.

    Errico A, Ballabio A, Rugarli EI.

    Hum Mol Genet. 2002 Jan 15;11(2):153-63.PMID: 11809724 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.

    Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.

    Hum Mutat. 2002 Aug;20(2):127-32.PMID: 12124993 [PubMed - indexed for MEDLINE]Related articles

    6.

    Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.

    Charvin D, Cifuentes-Diaz C, Fonknechten N, Joshi V, Hazan J, Melki J, Betuing S.

    Hum Mol Genet. 2003 Jan 1;12(1):71-8.PMID: 12490534 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Clinical features of hereditary spastic paraplegia due to spastin mutation.

    McDermott CJ, Burness CE, Kirby J, Cox LE, Rao DG, Hewamadduma C, Sharrack B, Hadjivassiliou M, Chinnery PF, Dalton A, Shaw PJ; UK and Irish HSP Consortium.

    Neurology. 2006 Jul 11;67(1):45-51. Erratum in: Neurology. 2009 Apr 28;72(17):1534. PMID: 16832076 [PubMed - indexed for MEDLINE]Related articles

    8.

    Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

    Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH.

    J Neurol Sci. 2002 Sep 15;201(1-2):65-9.PMID: 12163196 [PubMed - indexed for MEDLINE]Related articles

    9.

    Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

    Pantakani DV, Zechner U, Arygriou L, Pauli S, Sauter SM, Mannan AU.

    Clin Genet. 2008 Mar;73(3):268-72. Epub 2007 Jan 9.PMID: 18190593 [PubMed - indexed for MEDLINE]Related articles

    10.

    Pleiotropic effects of spastin on neurite growth depending on expression levels.

    Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, Siciliano G, Di Bella D, Taroni F, Bassi MT, Cappelletti G, Rugarli EI.

    J Neurochem. 2009 Mar;108(5):1277-88. Epub 2009 Jan 29.PMID: 19141076 [PubMed - indexed for MEDLINE]Related articles

    11.

    Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus.

    Claudiani P, Riano E, Errico A, Andolfi G, Rugarli EI.

    Exp Cell Res. 2005 Oct 1;309(2):358-69.PMID: 16026783 [PubMed - indexed for MEDLINE]Related articles

    12.

    Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia.

    Solowska JM, Morfini G, Falnikar A, Himes BT, Brady ST, Huang D, Baas PW.

    J Neurosci. 2008 Feb 27;28(9):2147-57.PMID: 18305248 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

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

    Iwanaga H, Tsujino A, Shirabe S, Eguchi H, Fukushima N, Niikawa N, Yoshiura K, Eguchi K.

    Am J Med Genet A. 2005 Feb 15;133A(1):13-7.PMID: 15637712 [PubMed - indexed for MEDLINE]Related articles

    14.

    The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.

    Wood JD, Landers JA, Bingley M, McDermott CJ, Thomas-McArthur V, Gleadall LJ, Shaw PJ, Cunliffe VT.

    Hum Mol Genet. 2006 Sep 15;15(18):2763-71. Epub 2006 Aug 7.PMID: 16893913 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

    Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga S, Pericak-Vance MA, Ashley-Koch AE, Marchuk DA.

    Neurogenetics. 2004 Sep;5(3):157-64. Epub 2004 Jul 10.PMID: 15248095 [PubMed - indexed for MEDLINE]Related articles

    16.

    Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.

    Schickel J, Pamminger T, Ehrsam A, Münch S, Huang X, Klopstock T, Kurlemann G, Hemmerich P, Dubiel W, Deufel T, Beetz C.

    Eur J Neurol. 2007 Dec;14(12):1322-8. Epub 2007 Oct 3.PMID: 17916079 [PubMed - indexed for MEDLINE]Related articles

    17.

    Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

    Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.

    Hum Mutat. 2003 Feb;21(2):170.PMID: 12552568 [PubMed - indexed for MEDLINE]Related articles

    18.

    Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.

    Eur J Neurol. 2004 Dec;11(12):817-24.PMID: 15667412 [PubMed - indexed for MEDLINE]Related articles

    19.

    Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

    Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA.

    Arch Neurol. 2002 Feb;59(2):281-6.PMID: 11843700 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.

    Orso G, Martinuzzi A, Rossetto MG, Sartori E, Feany M, Daga A.

    J Clin Invest. 2005 Nov;115(11):3026-34.PMID: 16276413 [PubMed - indexed for MEDLINE]Related articlesFree article

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