Short tandem repeats (STRs) are a class of repetitive elements, composed of tandem arrays
of 1–6 base pair sequence motifs, that comprise a substantial fraction of the human genome …

Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Background SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least
250 repeats accounts for 10–60% of cases with unresolved cerebellar ataxia. We aimed to …

Friedreich ataxia is the most common of the hereditary ataxias. It is due to homozygous/
compound heterozygous mutations in FXN. This gene encodes frataxin, a protein largely …

Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function
mutations in the frataxin gene. In order to unravel frataxin function we developed …

One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative
ataxic syndrome which bears his name, his description remains at the core of the classical …

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common
of the inherited ataxias. The recent discovery of the gene that is mutated in this condition …

Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is caused in almost
all cases by homozygous intronic expansions resulting in the loss of frataxin, a mitochondrial …

Introduction Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder
characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally …

Within the closing decade of the twentieth century, 14 neurological disorders were shown to
result from the expansion of unstable trinucleotide repeats, establishing this once unique …