BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

351 related articles for article (PubMed ID: 20890085)

  • 1. 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; 30(5):516-20. PubMed ID: 20890085
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 4(3):199-207. PubMed ID: 7833949
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [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; 36(5):43-8. PubMed ID: 12442547
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 13(1):61-8. PubMed ID: 9888390
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 2(4):261-7. PubMed ID: 8104633
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy].
    Wang JM; Jiang YW; Shi HP; Zhang WM; Pan H; Bao XH; Wu Y; Qin J; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):378-82. PubMed ID: 16883521
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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;
    J Neurol Sci; 2009 Dec; 287(1-2):278-80. PubMed ID: 19699491
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

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

  • 11. 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; 568(1):69-75. PubMed ID: 25965562
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD.
    Issa AB; Feki FK; Jdila MB; Khabou B; Rhouma BB; Ammar-Keskes L; Triki C; Fakhfakh F
    J Mol Neurosci; 2018 Sep; 66(1):17-25. PubMed ID: 30083785
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 46(3):337-9. PubMed ID: 16110195
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
    Fluharty AL; Fluharty CB; Bohne W; von Figura K; Gieselmann V
    Am J Hum Genet; 1991 Dec; 49(6):1340-50. PubMed ID: 1684088
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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; 75(1):57-64. PubMed ID: 19021637
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation.
    Shahzad MA; Khaliq S; Amar A; Mahmood S
    J Mol Neurosci; 2017 Sep; 63(1):84-90. PubMed ID: 28799099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.