Trinucleotide repeat diseases

Latest Articles

Article
Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
Jacob N. Miller, Ellen van der Plas, Mark Hamilton, et al.

Neurology Genetics August 12, 2020
Editorial
Intronic pentanucleotide expansion in the replication factor 1 gene (RFC1) is a major cause of adult-onset ataxia
Sylvia M. Boesch, Martha A. Nance

Neurology Genetics May 20, 2020
Article
Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani, Darice Wong, Sameer Andani, et al.

Neurology Genetics May 20, 2020
Article
TGM6 L517W is not a pathogenic variant for spinocerebellar ataxia type 35
Yanxing Chen, Dengchang Wu, Benyan Luo, et al.

Neurology Genetics April 22, 2020