The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is
essential in order to understand the pathogenesis of many genetic diseases such as fragile …

Objective To describe the development of mouse models of fragile X-associated
tremor/ataxia (FXTAS) and the behavioral, histological and molecular characteristics of …

Objective: To describe in this review how research using mouse models developed to study
the Fragile X premutation (PM) and Fragile X-associated tremor/ataxia syndrome (FXTAS) …

After our initial discovery of reduced expression of several subunits of the GABAA receptor in
two different animal models for fragile X syndrome, a frequent form of inherited mental …

A CGG-repeat expansion in the premutation range in the Fragile X mental retardation 1
gene (FMR1) has been identified as the genetic cause of Fragile X-associated tremor/ataxia …

Carriers of premutation alleles (55–200 CGG repeats) of the fragile X mental retardation 1
(FMR1) gene are spared the major neurodevelopmental symptomatology of fragile X …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder that affects some carriers of the fragile X premutation (PM). In PM carriers, there is a …

The fragile X-related disorders are an important group of hereditary disorders that are
caused by expanded CGG repeats in the 5′ untranslated region of the FMR1 gene or by …

The human FMR1 gene contains an unstable CGG-repeat in its 5′ untranslated region. The
repeat length in the normal population is polymorphic (5–54 CGG-repeats). Individuals …

Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of
between 55 and 200 in the 5′-UTR of FMR1, compared to a CGG repeat length of between …