|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Normalizing PKC substrate phosphorylation in SCA1 and SCA2 mice accelerates degeneration, suggesting that the increased activity observed in these models is neuroprotective.
|
29432535 |
2018 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Levodopa-induced dyskinesias in spinocerebellar ataxia type 2.
|
20065139 |
2010 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
CTD_human |
Phenotype variability in spinocerebellar ataxia type 2: a longitudinal family survey and a case featuring an unusual benign course of disease.
|
19224595 |
2009 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: 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 DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study was to further assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, SCA8, SCA10, SCA12, SCA14, SCA17 and DRPLA (dentatorubro-pallidoluysian atrophy) in mainland Chinese, and to specifically characterize mainland Chinese patients with SCA6 in terms of clinical and molecular features.
|
15989765 |
2005 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2, SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and DRPLA (dentatorubropallidoluysian atrophy) CAG trinucleotide repeat expansions [(CAG)n] among persons diagnosed with hereditary SCA from Chinese families.
|
10768629 |
2000 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type 1 (SCA-1) is one of several neurodegenerative diseases, including Huntington's disease, spinobulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and SCA-2, SCA-3, SCA-6, and SCA-7, each caused by an expanded number of CAG repeats in the coding region of their respective genes.
|
10415138 |
1999 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among the autosomal dominant ataxias, spinocerebellar ataxia type 1 (SCA-1), SCA-2, MJD/SCA-3, and SCA-6 were represented.
|
10411345 |
1999 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
ADCA are genetically heterogeneous disorders with different cloned genes for spinocerebellar ataxia type 1 (SCA1), type 2 (SCA2), type 3 or Machado-Joseph disease (SCA3/MJD), and type 6 (SCA6).
|
9507387 |
1998 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CAG repeat expansions cause spinocerebellar ataxia type 1 (SCA1), SCA2, SCA3, SCA6 and dentatorubral-pallidoluysian atrophy (DRPLA).
|
9696528 |
1998 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been isolated for SCA1, SCA2 and Machado-Joseph disease (MJD), respectively.
|
9225982 |
1997 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, the clinical syndrome observed in SCA1 patients is different from that in SCA2 and SCA3.
|
8931575 |
1996 |
|
Spinocerebellar Ataxia Type 1
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Neuropathological investigations performed on autopsied brain and spinal cords from 11 patients showed that spinocerebellar ataxia type 1 (SCA-1) can be distinguished from autosomal dominant spinocerebellar ataxia linked to SCA-2 and -3 loci on chromosomes 12 and 14, spinopontine, and the multisystem atrophies.
|
8615077 |
1995 |