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Journal Abstract Search

420 related items for PubMed ID: 14517960

  • 1. Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD).
    Eng B, Nakamura LN, O'Reilly N, Schokman N, Nowaczyk MM, Krivit W, Waye JS.
    Hum Mutat; 2003 Nov; 22(5):418-9. PubMed ID: 14517960
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.
    Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M.
    J Clin Neurosci; 2006 May; 13(4):443-8. PubMed ID: 16678723
    [Abstract] [Full Text] [Related]

  • 3. Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.
    Shukla P, Vasisht S, Srivastava R, Gupta N, Ghosh M, Kumar M, Sharma R, Gupta AK, Kaur P, Kamate M, Gulati S, Kalra V, Phadke S, Singhi P, Dherai AJ, Kabra M.
    J Neurol Sci; 2011 Feb 15; 301(1-2):38-45. PubMed ID: 21167507
    [Abstract] [Full Text] [Related]

  • 4. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.
    Gort L, Coll MJ, Chabás A.
    Hum Mutat; 1999 Feb 15; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

  • 5. Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
    Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O, Tunisian Leukodystrophy Study Group.
    J Neurol Sci; 2009 Dec 15; 287(1-2):278-80. PubMed ID: 19699491
    [Abstract] [Full Text] [Related]

  • 6. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.
    Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C.
    Hum Mutat; 1997 Dec 15; 9(3):234-42. PubMed ID: 9090526
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
    Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S.
    Mol Genet Metab; 2003 Nov 15; 80(3):360-3. PubMed ID: 14680985
    [Abstract] [Full Text] [Related]

  • 8. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
    Luzi P, Rafi MA, Rao HZ, Wenger DA.
    Gene; 2013 Nov 10; 530(2):323-8. PubMed ID: 24001781
    [Abstract] [Full Text] [Related]

  • 9. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.
    Pastor-Soler NM, Rafi MA, Hoffman JD, Hu D, Wenger DA.
    Hum Mutat; 1994 Nov 10; 4(3):199-207. PubMed ID: 7833949
    [Abstract] [Full Text] [Related]

  • 10. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity.
    Berger J, Gmach M, Mayr U, Molzer B, Bernheimer H.
    Hum Mutat; 1999 Nov 10; 13(1):61-8. PubMed ID: 9888390
    [Abstract] [Full Text] [Related]

  • 11. [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].
    Horovenko NH, Ol'khovych NV, Pichkur NO.
    Tsitol Genet; 2002 Nov 10; 36(5):43-8. PubMed ID: 12442547
    [Abstract] [Full Text] [Related]

  • 12. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.
    Tylki-Szymańska A, Ługowska A, Chmielik J, Kotowicz J, Jakubowska-Winecka A, Zobel M, Berger J, Molzer B.
    Am J Med Genet; 2002 Jul 15; 110(4):315-9. PubMed ID: 12116203
    [Abstract] [Full Text] [Related]

  • 13. Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
    Virgens MY, Siebert M, Bock H, Burin M, Giugliani R, Saraiva-Pereira ML.
    Gene; 2015 Aug 15; 568(1):69-75. PubMed ID: 25965562
    [Abstract] [Full Text] [Related]

  • 14. An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.
    Harvey JS, Nelson PV, Carey WF, Robertson EF, Morris CP.
    Hum Mutat; 1993 Aug 15; 2(4):261-7. PubMed ID: 8104633
    [Abstract] [Full Text] [Related]

  • 15. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
    Kang DH, Lee DH, Hong YH, Lee ST, Jeon BR, Lee YK, Ki CS, Lee YW.
    Korean J Lab Med; 2010 Oct 15; 30(5):516-20. PubMed ID: 20890085
    [Abstract] [Full Text] [Related]

  • 16. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
    Lugowska A, Amaral O, Berger J, Berna L, Bosshard NU, Chabas A, Fensom A, Gieselmann V, Gorovenko NG, Lissens W, Mansson JE, Marcao A, Michelakakis H, Bernheimer H, Ol'khovych NV, Regis S, Sinke R, Tylki-Szymanska A, Czartoryska B.
    Mol Genet Metab; 2005 Nov 15; 86(3):353-9. PubMed ID: 16140556
    [Abstract] [Full Text] [Related]

  • 17. Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type.
    Ługowska A, Szymańska K, Kmiec T, Tarczyńska I, Czartoryska B, Tylki-Szymańska A, Jurkiewicz E.
    J Appl Genet; 2005 Nov 15; 46(3):337-9. PubMed ID: 16110195
    [Abstract] [Full Text] [Related]

  • 18. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
    Zlotogora J, Bach G, Bösenberg C, Barak Y, von Figura K, Gieselmann V.
    Hum Mutat; 1995 Nov 15; 5(2):137-43. PubMed ID: 7749412
    [Abstract] [Full Text] [Related]

  • 19. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
    Ługowska A, Berger J, Tylki-Szymańska A, Löschl B, Molzer B, Zobel M, Czartoryska B.
    Clin Genet; 2005 Jul 15; 68(1):48-54. PubMed ID: 15952986
    [Abstract] [Full Text] [Related]

  • 20. Molecular genetics of metachromatic leukodystrophy.
    Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP.
    Hum Mutat; 1994 Jul 15; 4(4):233-42. PubMed ID: 7866401
    [Abstract] [Full Text] [Related]

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