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 …

Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Mutations in X-linked genes are likely to account for the observation that more males than
females are affected by mental retardation. Causative mutations have recently been …

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves
the central and peripheral nervous systems and the heart. A gene, X25, was identified in the …

The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is
unknown but is thought to occur at the protein level. Here, in studies of spinocerebellar …

Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function
mutations in the frataxin gene. In order to unravel frataxin function we developed …

The fragile X syndrome, a common cause of inherited mental retardation, is characterized by
an unusual mode of inheritance. Phenotypic expression has been linked to abnormal …

Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western 'obesogenic'environment and a strong genetic contribution. Recent …

X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and
generalized muscle weakness, with impaired maturation of muscle fibres. We have restricted …

Abstract ADRENOLEUKODYSTROPHY (ALD) is an X-linked disease affecting 1/20,000
males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adults1 …