Ovarian aging in women correlates with the progressive loss of both the number and quality
of oocytes. When these processes occur early or are accelerated, their clinical correlates are …

Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Many physicians are unaware of the many phenotypes associated with the fragile X
premutation, an expansion in the 5′ untranslated region of the fragile X mental retardation …

The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …

Fragile X syndrome (FXS) is a common form of inherited intellectual disability and is one of
the leading known causes of autism. The mutation responsible for FXS is a large expansion …

Fragile X syndrome (FXS) is caused by the full mutation (> 200 CGG repeats) in the Fragile
X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual …

Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism
spectrum disorder, and patients can present with severe behavioural alterations, including …

Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …

The authors report five elderly men with the fragile X premutation who had a progressive
action tremor associated with executive function deficits and generalized brain atrophy …

The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of
the most common forms of inherited mental retardation. The cognitive, behavioral, and …