BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 12809638)

  • 1. Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele.
    Coulter-Mackie MB; Gagnier L
    Mol Genet Metab; 2003 Jun; 79(2):91-8. PubMed ID: 12809638
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 79(2):83-90. PubMed ID: 12809637
    [TBL] [Abstract][Full Text] [Related]  

  • 3. ARSA gene mutations in five Chinese metachromatic leukodystrophy patients.
    Wang J; Zhang W; Pan H; Bao X; Wu Y; Wu X; Jiang Y
    Pediatr Neurol; 2007 Jun; 36(6):397-401. PubMed ID: 17560502
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients.
    Beerepoot S; van Dooren SJM; Salomons GS; Boelens JJ; Jacobs EH; van der Knaap MS; van Kuilenburg ABP; Wolf NI
    Neurogenetics; 2020 Oct; 21(4):289-299. PubMed ID: 32632536
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
    Gieselmann V; Fluharty AL; Tønnesen T; Von Figura K
    Am J Hum Genet; 1991 Aug; 49(2):407-13. PubMed ID: 1678251
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 9(3):234-42. PubMed ID: 9090526
    [TBL] [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; 530(2):323-8. PubMed ID: 24001781
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
    Lugowska A; Czartoryska B; Tylki-Szymańska A; Bisko M; Zimowski JG; Berger J; Molzer B
    Eur Neurol; 2000; 44(2):104-7. PubMed ID: 10965162
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD).
    Hettiarachchi D; Dissanayake VHW
    BMC Res Notes; 2019 Nov; 12(1):726. PubMed ID: 31694723
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
    Coulter-Mackie M; Gagnier L
    Am J Med Genet; 1997 Nov; 73(1):32-5. PubMed ID: 9375919
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 14(3):240-8. PubMed ID: 10477432
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
    Regis S; Filocamo M; Stroppiano M; Corsolini F; Caroli F; Gatti R
    Hum Genet; 1998 Jan; 102(1):50-3. PubMed ID: 9490297
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.
    Wu S; Hou M; Zhang Y; Song J; Guo Y; Liu P; Liu Y; Yi L; Pan X; We W; Chen Z
    J Mol Neurosci; 2021 Feb; 71(2):245-251. PubMed ID: 32617873
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 301(1-2):38-45. PubMed ID: 21167507
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy.
    Onder E; Sinici I; Müjgan Sönmez F; Topçu M; Ozkara HA
    Neurol Res; 2009 Feb; 31(1):60-6. PubMed ID: 18768108
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 69(3):335-40. PubMed ID: 9096767
    [TBL] [Abstract][Full Text] [Related]  

  • 20. DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
    Coulter-Mackie MB; Applegarth DA; Toone J; Vallance H
    Clin Biochem; 1997 Feb; 30(1):57-61. PubMed ID: 9056111
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.