Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.
Changsha, China. In Clin Genet, Jan 2016
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 (HSP) and 99 probands with amyotrophic lateral sclerosis (ALS).
Spinocerebellar Ataxia Type 36
Seattle, United States. In Unknown Journal, 2014
Confirmation of the diagnosis relies on detection of an abnormal hexanucleotide GGCCTG repeat expansion in NOP56.
[Spinocerebellar ataxia type 36 (nicknamed Asidan)].
Okayama, Japan. In Brain Nerve, 2012
We report the phenotype of spinocerebellar ataxia type 36 (SCA36), which is a novel type of dominant cerebellar ataxia nicknamed as "Asidan," caused by the expansion of a hexanucleotide GGCCTG repeat in intron 1 of the nucleolar protein 56 (NOP56) gene.
Homologs of small nucleolar RNAs in Archaea.
Vancouver, Canada. In Science, 2000
Eighteen small sno-like RNAs (sRNAs) were cloned from the archaeon Sulfolobus acidocaldarius by coimmunoprecipitation with archaeal fibrillarin and NOP56, the homologs of eukaryotic snoRNA-associated proteins.