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 …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease
that is characterized by eosinophilic hyaline intranuclear inclusions in neuronal and somatic …

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …

Neuronal intranuclear inclusion disease (NIID) is a slowly progressing neurodegenerative
disease characterized by eosinophilic intranuclear inclusions in the nervous system and …

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease
characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused …

Essential tremor is one of the most common movement disorders. Despite its high
prevalence and heritability, the genetic aetiology of essential tremor remains elusive. Up to …

Oculopharyngodistal myopathy (OPDM) is an adult-onset neuromuscular disease
characterized by progressive ocular, facial, pharyngeal and distal limb muscle involvement …

Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized
by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and …

Background Abnormal expanded GGC repeats within the NOTCH2HLC gene has been
confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear …