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Journal Abstract Search

357 related items for PubMed ID: 12116203

  • 21. Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
    Hayashi T, Nakamura M, Ichiba M, Matsuda M, Kato M, Shiokawa N, Shimo H, Tomiyasu A, Mori S, Tomiyasu Y, Ishizuka T, Inamori Y, Okamoto Y, Umehara F, Arimura K, Nakabeppu Y, Sano A.
    Psychiatry Clin Neurosci; 2011 Feb; 65(1):105-8. PubMed ID: 21265945
    [Abstract] [Full Text] [Related]

  • 22. Diagnosis of arylsulfatase A deficiency.
    Li ZG, Waye JS, Chang PL.
    Am J Med Genet; 1992 Aug 01; 43(6):976-82. PubMed ID: 1357970
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
    Rafi MA, Coppola S, Liu SL, Rao HZ, Wenger DA.
    Mol Genet Metab; 2003 Jun 31; 79(2):83-90. PubMed ID: 12809637
    [Abstract] [Full Text] [Related]

  • 25. 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 31; 75(1):57-64. PubMed ID: 19021637
    [Abstract] [Full Text] [Related]

  • 26. 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 31; 30(5):516-20. PubMed ID: 20890085
    [Abstract] [Full Text] [Related]

  • 27. Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.
    Dubois G, Turpin JC, Georges MC, Baumann N.
    Biomedicine; 1980 Feb 31; 33(1):2-4. PubMed ID: 6102873
    [Abstract] [Full Text] [Related]

  • 28. 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 Feb 31; 2(4):261-7. PubMed ID: 8104633
    [Abstract] [Full Text] [Related]

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  • 30. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.
    Bisgaard AM, Kirchhoff M, Nielsen JE, Kibaek M, Lund A, Schwartz M, Christensen E.
    Clin Genet; 2009 Feb 31; 75(2):175-9. PubMed ID: 19054018
    [Abstract] [Full Text] [Related]

  • 31. 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]

  • 32. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
    Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S.
    Am J Hum Genet; 1993 Mar 15; 52(3):557-64. PubMed ID: 8095368
    [Abstract] [Full Text] [Related]

  • 33. Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
    Ługowska A, Musielak M, Jamroz E, Pyrkosz A, Kmieć T, Tylki-Szymańska A, Bednarska-Makaruk M.
    Gene; 2013 Sep 10; 526(2):176-81. PubMed ID: 23701968
    [Abstract] [Full Text] [Related]

  • 34. Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression.
    Baronica KB, Mlinac K, Ozretić D, Vladić A, Bognar SK.
    Coll Antropol; 2011 Jan 10; 35 Suppl 1():11-6. PubMed ID: 21648305
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. 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 Sep 12; 46(3):337-9. PubMed ID: 16110195
    [Abstract] [Full Text] [Related]

  • 37. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.
    Coulter-Mackie MB, Applegarth DA, Toone JR, Gagnier L, Anzarut AR, Hendson G.
    Can J Neurol Sci; 2002 May 12; 29(2):159-63. PubMed ID: 12035837
    [Abstract] [Full Text] [Related]

  • 38. 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 12; 86(3):353-9. PubMed ID: 16140556
    [Abstract] [Full Text] [Related]

  • 39. 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 12; 110(4):351-5. PubMed ID: 11941485
    [Abstract] [Full Text] [Related]

  • 40. 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 12; 68(1):48-54. PubMed ID: 15952986
    [Abstract] [Full Text] [Related]

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