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Journal Abstract Search

226 related items for PubMed ID: 12202986

  • 1. 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. PubMed ID: 12202986
    [Abstract] [Full Text] [Related]

  • 2. 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 01; 9(4):637-44. PubMed ID: 10699187
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 8(10):771-6. PubMed ID: 11039577
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 20(2):127-32. PubMed ID: 12124993
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 119(2):113-8. PubMed ID: 18664244
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 16(6):387-90. PubMed ID: 16684598
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 12163196
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 62(7):1118-21. PubMed ID: 16009769
    [Abstract] [Full Text] [Related]

  • 9. 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; 2010 Jan 15; 288(1-2):96-100. PubMed ID: 19875132
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.
    Bertelli M, Cecchin S, Lorusso L, Sidoti V, Fabbri A, Lapucci C, Buda A, Pandolfo M.
    Panminerva Med; 2006 Sep 15; 48(3):193-7. PubMed ID: 17122756
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 21(2):170. PubMed ID: 12552568
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 70(4):481-7. PubMed ID: 23400676
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Mental deficiency in three families with SPG4 spastic paraplegia.
    Ribaï P, Depienne C, Fedirko E, Jothy AC, Viveweger C, Hahn-Barma V, Brice A, Durr A.
    Eur J Hum Genet; 2008 Jan 25; 16(1):97-104. PubMed ID: 17957230
    [Abstract] [Full Text] [Related]

  • 17. [AAA ATPases and hereditary spastic paraplegia].
    Wang YG, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 25; 26(3):298-301. PubMed ID: 19504443
    [Abstract] [Full Text] [Related]

  • 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 25; 70(6):490-5. PubMed ID: 17100993
    [Abstract] [Full Text] [Related]

  • 19. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
    Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J.
    Nat Genet; 1999 Nov 25; 23(3):296-303. PubMed ID: 10610178
    [Abstract] [Full Text] [Related]

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