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    Results: 1 to 20 of 139

    1.

    Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

    Depienne C, Tallaksen C, Lephay JY, Bricka B, Poea-Guyon S, Fontaine B, Labauge P, Brice A, Durr A.

    J Med Genet. 2006 Mar;43(3):259-65. Epub 2005 Jul 31.PMID: 16055926 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia.

    Magariello A, Muglia M, Patitucci A, Mazzei R, Conforti FL, Gabriele AL, Sprovieri T, Ungaro C, Gambardella A, Mancuso M, Siciliano G, Branca D, Aguglia U, de Angelis MV, Longo K, Quattrone A.

    Neuromuscul Disord. 2006 Jun;16(6):387-90. Epub 2006 May 8.PMID: 16684598 [PubMed - indexed for MEDLINE]Related articles

    3.

    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

    4.

    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

    5.

    Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

    Crippa F, Panzeri C, Martinuzzi A, Arnoldi A, Redaelli F, Tonelli A, Baschirotto C, Vazza G, Mostacciuolo ML, Daga A, Orso G, Profice P, Trabacca A, D'Angelo MG, Comi GP, Galbiati S, Lamperti C, Bonato S, Pandolfo M, Meola G, Musumeci O, Toscano A, Trevisan CP, Bresolin N, Bassi MT.

    Arch Neurol. 2006 May;63(5):750-5.PMID: 16682546 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    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

    7.

    Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

    Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.

    Arch Neurol. 2004 Dec;61(12):1867-72.PMID: 15596607 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.

    Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM.

    J Med Genet. 2000 Oct;37(10):759-65.PMID: 11015453 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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

    10.

    Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

    Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J.

    Hum Mol Genet. 2000 Mar 1;9(4):637-44. Erratum in: Hum Mol Genet. 2005 Feb 1;14(3):461. Boentsch, D [corrected to Bönsch, D]. PMID: 10699187 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    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

    12.

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

    Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM.

    Hum Mutat. 2005 May;25(5):506.PMID: 15841487 [PubMed - indexed for MEDLINE]Related articles

    13.

    A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia.

    Ki CS, Lee WY, Han DH, Sung DH, Lee KB, Lee KA, Cho SS, Cho S, Hwang H, Sohn KM, Choi YJ, Kim JW.

    J Hum Genet. 2002;47(9):473-7.PMID: 12202986 [PubMed - indexed for MEDLINE]Related articles

    14.

    Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.

    Tang B, Zhao G, Xia K, Pan Q, Luo W, Shen L, Long Z, Dai H, Zi X, Jiang H.

    Arch Neurol. 2004 Jan;61(1):49-55.PMID: 14732620 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    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

    16.

    Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

    Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I.

    Acta Neurol Scand. 2009 Feb;119(2):113-8. Epub 2008 Jul 29.PMID: 18664244 [PubMed - indexed for MEDLINE]Related articles

    17.

    Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.

    Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY.

    Arch Neurol. 2005 Jul;62(7):1118-21.PMID: 16009769 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

    White KD, Ince PG, Lusher M, Lindsey J, Cookson M, Bashir R, Shaw PJ, Bushby KM.

    Neurology. 2000 Jul 12;55(1):89-94.PMID: 10891911 [PubMed - indexed for MEDLINE]Related articles

    19.

    Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia.

    Magariello A, Muglia M, Patitucci A, Ungaro C, Mazzei R, Gabriele AL, Sprovieri T, Citrigno L, Conforti FL, Liguori M, Gambardella A, Bono F, Piccoli T, Patti F, Zappia M, Mancuso M, Iemolo F, Quattrone A.

    J Neurol Sci. 2009 Oct 27. [Epub ahead of print]PMID: 19875132 [PubMed - as supplied by publisher]Related articles

    20.

    Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

    Schlang KJ, Arning L, Epplen JT, Stemmler S.

    BMC Med Genet. 2008 Jul 21;9:71.PMID: 18644145 [PubMed - indexed for MEDLINE]Related articlesFree article

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