BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 32617873)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
    Wang Z; Lin Y; Zheng D; Yan A; Tu X; Lin J; Lan F
    Clin Chim Acta; 2016 Sep; 460():135-7. PubMed ID: 27374302
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
    Amr K; Fateen E; Mansour L; Tosson AM; Zaki MS; Salam GMA; Mohamed AN; El-Bassyouni HT
    J Mol Neurosci; 2021 May; 71(5):1112-1130. PubMed ID: 33185815
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.
    Aslan M; Kirik S; Özgör B; Güngör S
    J Pediatr Endocrinol Metab; 2018 Sep; 31(9):1047-1051. PubMed ID: 30052522
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism.
    Guo L; Jin B; Zhang Y; Wang J
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1478. PubMed ID: 32875726
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.
    Mahdieh N; Sharifi A; Rabbani A; Ashrafi M; Tavasoli AR; Badv RS; Bonkowsky JL; Rabbani B
    Clin Neurol Neurosurg; 2021 Feb; 201():106448. PubMed ID: 33385934
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [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]  

  • 20. Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
    Böhringer J; Santer R; Schumacher N; Gieseke F; Cornils K; Pechan M; Kustermann-Kuhn B; Handgretinger R; Schöls L; Harzer K; Krägeloh-Mann I; Müller I
    Hum Mutat; 2017 Nov; 38(11):1511-1520. PubMed ID: 28762252
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.