Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our study extended the homozygous mutation spectrum of the TWNK gene that leads to IOSCA.
|
31823625 |
2019 |
Infantile onset spinocerebellar ataxia
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Twinkle-Associated Mitochondrial DNA Depletion.
|
30391088 |
2019 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
|
27551684 |
2016 |
Infantile onset spinocerebellar ataxia
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
|
27551684 |
2016 |
Infantile onset spinocerebellar ataxia
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations c.1460C>T and c.1485-1G>A in C10orf2 were identified as causative of IOSCA.
|
24816431 |
2014 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.
|
22353293 |
2012 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands.
|
22353293 |
2012 |
Infantile onset spinocerebellar ataxia
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel variation in the Twinkle linker region causing late-onset dementia.
|
19513767 |
2010 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the human C10orf2 gene, encoding the mitochondrial DNA (mtDNA) helicase, co-segregate with mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia.
|
20659899 |
2010 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.
|
19853444 |
2009 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial helicase Twinkle, in its helicase domain.
|
18775955 |
2008 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
|
17722119 |
2007 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.
|
17921179 |
2007 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
IOSCA phenotype is the first recessive one due to Twinkle and Twinky mutations, the dominant PEO mutations affecting mtDNA maintenance, but in IOSCA, mtDNA stays intact.
|
16135556 |
2005 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
IOSCA phenotype is the first recessive one due to Twinkle and Twinky mutations, the dominant PEO mutations affecting mtDNA maintenance, but in IOSCA, mtDNA stays intact.
|
16135556 |
2005 |
Infantile onset spinocerebellar ataxia
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We have previously assigned the IOSCA locus (HGMW-approved symbol SCA8) to chromosome 10q, where no previously identified ataxia loci are located.
|
9027505 |
1997 |
Infantile onset spinocerebellar ataxia
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
Infantile onset spinocerebellar ataxia
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Twinkle-Associated Mitochondrial DNA Depletion.
|
30391088 |
2019 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.
|
24018892 |
2013 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
|
20880070 |
2011 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
|
20659899 |
2010 |
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
|
20479361 |
2010 |