Spinocerebellar ataxia 36
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
A hexanucleotide GGCCTG repeat expansion in intron 1 of the nucleolar protein 56 gene causes spinocerebellar ataxia type 36 (SCA36), which is a relatively pure cerebellar ataxia with progressive motor neuron involvement.
|
30610877 |
2019 |
Spinocerebellar ataxia 36
|
0.690 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
To assess the frequency and clinical characteristics of SCA36 in patients from Mainland China, we combined the repeat-primed polymerase chain reaction method and Southern blot analysis to detect the GGCCTG hexanucleotide repeats of NOP56 in 364 probands with SCA, 126 probands with hereditary spastic paraplegia and 99 probands with amyotrophic lateral sclerosis (ALS).
|
26661328 |
2016 |
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
|
21683323 |
2011 |
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
To characterize the phenotype of spinocerebellar ataxia type 36 (SCA36), a novel dominant disorder (nicknamed "Asidan") caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the NOP56 gene.
|
22744658 |
2012 |
Spinocerebellar ataxia 36
|
0.690 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».
|
25593102 |
2018 |
Spinocerebellar ataxia 36
|
0.690 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
We found the presence of the spinocerebellar ataxia 36 mutation co-segregating with disease in these families in whom we had previously identified an ~0.8 Mb linkage region to chromosome 20 p. Subsequent screening revealed the NOP56 expansion in eight additional Galician ataxia kindreds.
|
22492559 |
2012 |
Spinocerebellar ataxia 36
|
0.690 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Spinocerebellar ataxia 36
|
0.690 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of the NOP56 gene.
|
25476002 |
2015 |
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 36 (SCA36), also called Asidan, is an autosomal-dominant neurodegenerative disorder identified as a hexanucleotide GGCCTG repeat expansion in the first intron 1 of the NOP56 gene.
|
24985895 |
2014 |
Spinocerebellar ataxia 36
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature of RNA foci formation in postmortem tissues.
|
28918022 |
2017 |
Malignant neoplasm of stomach
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Ataxia, Spinocerebellar
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Adenocarcinoma of lung (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma.
|
27602772 |
2016 |
Spinocerebellar Ataxia Type 1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 2
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 4
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 5
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Spinocerebellar Ataxia Type 7
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hereditary Diffuse Gastric Cancer
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Atrophy of tongue
|
0.110 |
Biomarker
|
disease |
BEFREE |
We report on a unique complication of cerebellar ataxia and motor neuron disease named Asidan/SCA36 with a high frequency of tongue atrophy.
|
23146615 |
2013 |
Atrophy of tongue
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|