Litcius/Paper detail

RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia

Mai Tsuchiya, Haitian Nan, Kishin Koh, Yuta Ichinose, Lihua Gao, Keisuke Shimozono, Takanori Hata, Yeon‐Jeong Kim, Toshihisa Ohtsuka, Andrea Cortese, Yoshihisa Takiyama

2020Journal of Human Genetics49 citationsDOI

Topics & Concepts

Trinucleotide repeat expansionAtaxiaCerebellar ataxiaMedicineGeneticsFatal familial insomniaAge of onsetPediatricsDiseasePathologyBiologyAlleleGenePsychiatryPrion proteinGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyDNA Repair Mechanisms