330 related articles for article (PubMed ID: 16966551)
1. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Rauschka H; Colsch B; Baumann N; Wevers R; Schmidbauer M; Krammer M; Turpin JC; Lefevre M; Olivier C; Tardieu S; Krivit W; Moser H; Moser A; Gieselmann V; Zalc B; Cox T; Reuner U; Tylki-Szymanska A; Aboul-Enein F; LeGuern E; Bernheimer H; Berger J
Neurology; 2006 Sep; 67(5):859-63. PubMed ID: 16966551
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Ługowska A; Berger J; Tylki-Szymańska A; Löschl B; Molzer B; Zobel M; Czartoryska B
Clin Genet; 2005 Jul; 68(1):48-54. PubMed ID: 15952986
[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. 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]
6. [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]
7. 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]
8. 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]
9. 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]
10. [Diagnostic strategy of metachromatic leukodystrophy in Tunisia].
Barboura I; Chebel S; Ferchichi S; Ben Mansour R; Frih-Ayed M; Miled A
Ann Biol Clin (Paris); 2011; 69(4):465-9. PubMed ID: 21896413
[TBL] [Abstract][Full Text] [Related]
11. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries.
Lugowska A; Amaral O; Berger J; Berna L; Bosshard NU; Chabas A; Fensom A; Gieselmann V; Gorovenko NG; Lissens W; Mansson JE; Marcao A; Michelakakis H; Bernheimer H; Ol'khovych NV; Regis S; Sinke R; Tylki-Szymanska A; Czartoryska B
Mol Genet Metab; 2005 Nov; 86(3):353-9. PubMed ID: 16140556
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. [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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
Halsall DJ; Halligan EP; Elsey TS; Cox TM
Hum Mutat; 1999 Nov; 14(5):447. PubMed ID: 10533072
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]