Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.
|
21265945 |
2011 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unidentified alleles revealed eight rare mutations on 10 alleles: p.R390W, p.E382K, p.R390Q, p.R288C, p.H397Y, p.F247S, p.D335V and g.561_562insC, responsible together for 12% of the examined alleles.
|
20339381 |
2010 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy.
|
19606494 |
2009 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
|
18693274 |
2008 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
|
15710861 |
2005 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.
|
15026521 |
2004 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
|
15326627 |
2004 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations.
|
12503099 |
2003 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.
|
12788103 |
2003 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed by comprehensive nucleotide sequencing of the ARSA gene to detect rare or private mutations.
|
14517960 |
2003 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.
|
14680985 |
2003 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.
|
11941485 |
2002 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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.
|
11456299 |
2001 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Variable onset of metachromatic leukodystrophy in a Vietnamese family.
|
11020646 |
2000 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
|
11061266 |
2000 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.
|
10751093 |
2000 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD patients.
|
10477432 |
1999 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
|
10533072 |
1999 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease.
|
10381328 |
1999 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA.
|
10220151 |
1999 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy.
|
9452102 |
1998 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.
|
9600244 |
1998 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.
|
9490297 |
1998 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations.
|
9819708 |
1998 |
Leukodystrophy, Metachromatic
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy.
|
8891236 |
1997 |