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335 related items for PubMed ID: 10381328

  • 1. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
    Qu Y, Shapira E, Desnick RJ.
    Mol Genet Metab; 1999 Jul; 67(3):206-12. PubMed ID: 10381328
    [Abstract] [Full Text] [Related]

  • 2. 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 Jul; 9(3):234-42. PubMed ID: 9090526
    [Abstract] [Full Text] [Related]

  • 3. 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; 80(3):360-3. PubMed ID: 14680985
    [Abstract] [Full Text] [Related]

  • 4. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy.
    Berger J, Löschl B, Bernheimer H, Lugowska A, Tylki-Szymanska A, Gieselmann V, Molzer B.
    Am J Med Genet; 1997 Mar 31; 69(3):335-40. PubMed ID: 9096767
    [Abstract] [Full Text] [Related]

  • 5. [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 Mar 31; 36(5):43-8. PubMed ID: 12442547
    [Abstract] [Full Text] [Related]

  • 6. 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 Mar 31; 14(3):240-8. PubMed ID: 10477432
    [Abstract] [Full Text] [Related]

  • 7. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
    Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J.
    Neurology; 2006 Sep 12; 67(5):859-63. PubMed ID: 16966551
    [Abstract] [Full Text] [Related]

  • 8. Complex arylsulfatase A alleles causing metachromatic leukodystrophy.
    Kappler J, Sommerlade HJ, von Figura K, Gieselmann V.
    Hum Mutat; 1994 Sep 12; 4(2):119-27. PubMed ID: 7981715
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
    Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M.
    Hum Genet; 2002 Apr 15; 110(4):351-5. PubMed ID: 11941485
    [Abstract] [Full Text] [Related]

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

  • 12. 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 15; 13(4):443-8. PubMed ID: 16678723
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Molecular basis of different forms of metachromatic leukodystrophy.
    Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V.
    N Engl J Med; 1991 Jan 03; 324(1):18-22. PubMed ID: 1670590
    [Abstract] [Full Text] [Related]

  • 15. Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
    Kumperscak HG, Plesnicar BK, Zalar B, Gradisnik P, Seruga T, Paschke E.
    Psychiatr Genet; 2007 Apr 03; 17(2):85-91. PubMed ID: 17413447
    [Abstract] [Full Text] [Related]

  • 16. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
    Kappler J, von Figura K, Gieselmann V.
    Ann Neurol; 1992 Mar 03; 31(3):256-61. PubMed ID: 1353340
    [Abstract] [Full Text] [Related]

  • 17. 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 Mar 03; 13(1):61-8. PubMed ID: 9888390
    [Abstract] [Full Text] [Related]

  • 18. Genetics of metachromatic leukodystrophy.
    Gieselmann V, Kreysing J, von Figura K.
    Gene Ther; 1994 Mar 03; 1 Suppl 1():S87. PubMed ID: 8542433
    [Abstract] [Full Text] [Related]

  • 19. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
    Ługowska A, Wlodarski P, Płoski R, Mierzewska H, Dudzińska M, Matheisel A, Swietochowska H, Tylki-Szymańska A.
    Clin Genet; 2009 Jan 03; 75(1):57-64. PubMed ID: 19021637
    [Abstract] [Full Text] [Related]

  • 20. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.
    Poeppel P, Habetha M, Marcão A, Büssow H, Berna L, Gieselmann V.
    FEBS J; 2005 Mar 03; 272(5):1179-88. PubMed ID: 15720392
    [Abstract] [Full Text] [Related]

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