|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-coding regions of genes like SCA8, SCA10, SCA12 and SCA36.
|
29316893 |
2018 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
LHGDN |
Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
|
17132942 |
2005 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
|
16135556 |
2005 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado-Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats.
|
15080863 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.
|
14756671 |
2004 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
|
12545428 |
2003 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SCA8 represents 4% of the total dominant spinocerebellar ataxias studied in our group (Spanish population) (three index patients out of 75 dominant ataxic independent nucleus).
|
12431257 |
2002 |
|
Ataxia, Spinocerebellar
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA).
|
10712199 |
2000 |
|
Ataxia, Spinocerebellar
|
0.100 |
Biomarker
|
disease |
BEFREE |
These repeats localize to an intron in transcription factor gene SEF2-1B at 18q21, a site named ERDA1 on 17q21 with no associated coding region, and the 3' end of a gene on 13q21, SCA8, that is believed to be responsible for a form of spinocerebellar ataxia.
|
10813808 |
2000 |