The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

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 …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability.
We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor …

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

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

Pathogenic short tandem repeat (STR) expansions cause over 20 neurodegenerative
diseases. To determine the contribution of STRs in sporadic amyotrophic lateral sclerosis …

Objective To delineate the full phenotypic spectrum, discriminative features, piloting
longitudinal progression data, and sample size calculations of replication factor complex …