Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders,
such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome …

Manganese is essential for several metabolic pathways but becomes toxic in excessive
amounts. Manganese levels in the body are therefore tightly regulated, but the responsible …

It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and
specific behavioral problems. In neurons, the protein transports specific mRNAs towards the …

Two novel mutations recently have been identified in the DJ‐1 gene that cause a new form
of autosomal recessive, early‐onset parkinsonism. Because the pathological role of this …

The human FMR1 gene contains a CGG repeat in its 5′ untranslated region. The repeat
length in the normal population is polymorphic (5–55 CGG repeats). Lengths beyond 200 …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative
disorder generally presenting with intention tremor and gait ataxia, but with a growing list of …

Fragile X syndrome is caused by the expansion of the CGG repeat in the 5'untranslated
region of the FMR1 gene. This expansion leads to methylation of the FMR1 promoter region …

Pompe's disease (glycogen storage disease type II) is an autosomal recessive myopathy
caused by lysosomal α‐glucosidase deficiency. Enzyme replacement therapy (ERT) is …

Lack of fragile X mental retardation protein (FMRP) causes fragile X syndrome, a common
form of inherited mental retardation. FMRP is an RNA binding protein thought to be involved …

Frontotemporal dementia and parkinsonism linked to chromosome 17 have been associated
with mutations in the microtubule associated protein tau (MAPT or tau) gene. This disorder is …