The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

The polyglutamine expansion of huntingtin (mHTT) causes Huntington disease (HD) and
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …

Instability of simple DNA repeats has been known as a common cause of hereditary ataxias
for over 20 years. Routine genetic diagnostics of these phenotypically similar diseases still …

Non-coding CGG repeat expansions cause multiple neurodegenerative disorders, including
fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease …

Recently, inspired by the similar clinical and pathological features shared with fragile X-
associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the …

Rare diseases (RDs), more than 80% of which have a genetic origin, collectively affect
approximately 350 million people worldwide. Progress in next-generation sequencing …

This review discusses the discovery, epidemiology, pathophysiology, genetic etiology,
molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It …

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder
associated with the FMR1 premutation. Currently, it is not possible to determine when and if …

hnRNPH2-related neurodevelopmental disorder (NDD) is caused by mutations in the
HNRNPH2 gene and is associated with substantial challenges, including developmental …