Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
seen in older premutation (55–200 CGG repeats) carriers of FMR1. The premutation has …

An intronic G 4 C 2 hexanucleotide repeat expansion in C9ORF72 is a major cause of
amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Several mechanisms …

The G 4 C 2 repeat expansion in C9orf72 is the most common known cause of amyotrophic
lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We tested the …

Parents enrolling in a national survey of families of children with fragile X (FX) reported
whether each of their children had been diagnosed or treated for developmental delay or …

Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder
caused by expansion of 55–200 CGG repeats in the 5′‐UTR of the FMR1 gene. FXTAS is …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative
disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These …

Fragile X syndrome (FXS) is caused by an expanded CGG repeat (> 200 repeats) in the
5'untranslated portion of the fragile mental retardation 1 gene (FMR1), leading to deficiency …

A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …

Short trinucleotide expansions at the FMR1 locus are associated with the late-onset
condition fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different …