BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

92 related articles for article (PubMed ID: 15026521)

  • 1. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
    Gallo S; Randi D; Bertelli M; Salviati A; Pandolfo M
    J Neurol Neurosurg Psychiatry; 2004 Apr; 75(4):655-7. PubMed ID: 15026521
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
    Stoeck K; Psychogios MN; Ohlenbusch A; Steinfeld R; Schmidt J
    J Alzheimers Dis; 2016; 51(3):683-7. PubMed ID: 26890752
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients.
    Barth ML; Fensom A; Harris A
    Hum Mol Genet; 1993 Dec; 2(12):2117-21. PubMed ID: 7906588
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 52(3):557-64. PubMed ID: 8095368
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular genetics of metachromatic leukodystrophy.
    Gieselmann V; Polten A; Kreysing J; Kappler J; Fluharty A; von Figura K
    Dev Neurosci; 1991; 13(4-5):222-7. PubMed ID: 1687778
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
    Comabella M; Waye JS; Raguer N; Eng B; Domínguez C; Navarro C; Borrás C; Krivit W; Montalbán X
    Ann Neurol; 2001 Jul; 50(1):108-12. PubMed ID: 11456299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 17(2):85-91. PubMed ID: 17413447
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.
    Fukutani Y; Noriki Y; Sasaki K; Isaki K; Kuriyama M; Kurosawa K; Ida H
    Psychiatry Clin Neurosci; 1999 Jun; 53(3):425-8. PubMed ID: 10459747
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
    Marcão AM; Wiest R; Schindler K; Wiesmann U; Weis J; Schroth G; Miranda MC; Sturzenegger M; Gieselmann V
    Arch Neurol; 2005 Feb; 62(2):309-13. PubMed ID: 15710861
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis.
    Miura A; Kumabe Y; Kimura E; Yamashita S; Ueda A; Hirano T; Uchino M
    BMJ Case Rep; 2010 Dec; 2010():. PubMed ID: 22798296
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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]  

  • 17. 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]  

  • 18. [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]  

  • 19. 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; 29(2):159-63. PubMed ID: 12035837
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variable onset of metachromatic leukodystrophy in a Vietnamese family.
    Arbour LT; Silver K; Hechtman P; Treacy EP; Coulter-Mackie MB
    Pediatr Neurol; 2000 Aug; 23(2):173-6. PubMed ID: 11020646
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.