Huntington's disease (HD) is a devastating neurodegenerative disorder that is caused by an
abnormal expansion of CAG repeats in the Huntingtin (HTT) gene. Although the main …

There is increasing recognition of the heterogeneity of origin of cases of autism spectrum
disorder (ASD) with multiple forms of ASD having been identified over the decades. Among …

A rare disease is defined by its low prevalence in the general population. Although the fixed
threshold slightly varies between different countries, a specific disorder is usually …

Repeat expansion disorders (REDs) encompass over 50 inherited neurological disorders
and are characterized by the expansion of short tandem nucleotide repeats beyond a …

The diagnosis and management of fragile X syndrome (FXS) have significantly improved in
the last three decades, although the current diagnostic techniques are not yet able to …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that
affects older premutation carriers (55–200 CGG repeats) of the fragile X gene. Despite the …

Fragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene,
leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 …

Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene which can lead to a
loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs and can …

La función ovárica normal puede ocasionalmente ser interrumpida por procesos
patológicos de etiología no siempre bien determinada, entre las causas más comunes están …