156 related articles for article (PubMed ID: 8105116)
1. [Molecular analysis of Japanese patients with metachromatic leukodystrophy].
Hasegawa Y; Kawame H; Eto Y
Nihon Rinsho; 1993 Sep; 51(9):2314-8. PubMed ID: 8105116
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.
Hasegawa Y; Kawame H; Eto Y
DNA Cell Biol; 1993; 12(6):493-8. PubMed ID: 8101083
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
Tsuda T; Hasegawa Y; Eto Y
Brain Dev; 1996; 18(5):400-3. PubMed ID: 8891236
[TBL] [Abstract][Full Text] [Related]
6. [Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].
Eto Y; Hasegawa Y; Tsuda T
Nihon Rinsho; 1995 Dec; 53(12):2994-3003. PubMed ID: 8577048
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.
Bohne W; von Figura K; Gieselmann V
Hum Genet; 1991 Jun; 87(2):155-8. PubMed ID: 1676699
[TBL] [Abstract][Full Text] [Related]
9. [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]
10. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Tylki-Szymanska A; Berger J; Löschl B; Lugowska A; Molzer B
Clin Genet; 1996 Nov; 50(5):287-92. PubMed ID: 9007312
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of different forms of metachromatic leukodystrophy.
Polten A; Fluharty AL; Fluharty CB; Kappler J; von Figura K; Gieselmann V
N Engl J Med; 1991 Jan; 324(1):18-22. PubMed ID: 1670590
[TBL] [Abstract][Full Text] [Related]
12. Genetics of metachromatic leukodystrophy.
Gieselmann V; Kreysing J; von Figura K
Gene Ther; 1994; 1 Suppl 1():S87. PubMed ID: 8542433
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.
Kappler J; von Figura K; Gieselmann V
Ann Neurol; 1992 Mar; 31(3):256-61. PubMed ID: 1353340
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.
Kondo R; Wakamatsu N; Yoshino H; Fukuhara N; Miyatake T; Tsuji S
Am J Hum Genet; 1991 May; 48(5):971-8. PubMed ID: 1673291
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]