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Journal Abstract Search

396 related items for PubMed ID: 16009769

  • 1. 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. PubMed ID: 16009769
    [Abstract] [Full Text] [Related]

  • 2. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
    Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.
    Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563
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  • 3. 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. PubMed ID: 18664244
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  • 4. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
    Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE.
    J Neurol Sci; 2009 Sep 15; 284(1-2):90-5. PubMed ID: 19423133
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  • 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 15; 20(2):127-32. PubMed ID: 12124993
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  • 7. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
    Abel A, Fonknechten N, Hofer A, Dürr A, Cruaud C, Voit T, Weissenbach J, Brice A, Klimpe S, Auburger G, Hazan J.
    Neurogenetics; 2004 Dec 15; 5(4):239-43. PubMed ID: 15517445
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  • 8. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
    Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E, Group for the Study of the Genetics of Spastic Paraplegia.
    BMC Neurol; 2010 Oct 08; 10():89. PubMed ID: 20932283
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  • 10. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
    Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P.
    JAMA Neurol; 2013 Apr 08; 70(4):481-7. PubMed ID: 23400676
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  • 11. High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY, Chang YY, Yeh TH, Lai SC, Liou CW, Kuo HC, Wu YR, Lyu RK, Hung JW, Chang YC, Lu CS.
    BMC Neurol; 2014 Nov 25; 14():216. PubMed ID: 25421405
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  • 13. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
    Lu X, Cen Z, Xie F, Ouyang Z, Zhang B, Zhao G, Luo W.
    J Neurol Sci; 2014 Dec 15; 347(1-2):368-71. PubMed ID: 25454648
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  • 14. Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY, Fu SC, Chang YY, Wu-Chou YH, Lai SC, Chen RS, Lu CS.
    J Formos Med Assoc; 2012 Jul 15; 111(7):380-5. PubMed ID: 22817815
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  • 15. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
    McCorquodale DS, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S.
    Clin Genet; 2011 Jun 15; 79(6):523-30. PubMed ID: 20718791
    [Abstract] [Full Text] [Related]

  • 16. 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.
    Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J.
    Hum Mutat; 2004 Jan 15; 23(1):98. PubMed ID: 14695538
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  • 18. Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
    Ivanova N, Löfgren A, Tournev I, Rousev R, Andreeva A, Jordanova A, Georgieva V, Deconinck T, Timmerman V, Kremensky I, De Jonghe P, Mitev V.
    Clin Genet; 2006 Dec 15; 70(6):490-5. PubMed ID: 17100993
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  • 19. 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. PubMed ID: 16832076
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