Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

(2023) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort

(2023) Holger Hengel et al.   MOVEMENT DISORDERS

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

(2022) Satoko Miyatake et al.   npj Genomic Medicine

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

(2022) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

(2022) David Pellerin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Spinocerebellar ataxia: relationship between phenotype and genotype - a review

(2016) Y.-M. Sun et al.   CLINICAL GENETICS

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM