Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized
by the loss of both upper and lower motor neurons in the central nervous system. In a …

Hereditary cerebellar ataxias are a heterogenous group of progressive neurological
disorders that are disproportionately caused by repeat expansions (REs) of short tandem …

An increasing number of human disorders are attributed to genomic expansions of short
tandem repeats (STRs). Secondary DNA structures formed by STRs are believed to play an …

Tandem repeat sequences comprise approximately 8% of the human genome and are
linked to more than 50 neurodegenerative disorders. Accurate characterization of disease …

Intermediate CAG expansions in the gene ataxin-2 (ATXN2) are a known risk factor for ALS,
but little is known about their role in FTD risk. Moreover, their contribution to the risk and …

Biallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin
of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) as well as of one …

Genetic repeat expansions cause neuronal degeneration in amyotrophic lateral sclerosis as
well as other neurodegenerative disorders such as spinocerebellar ataxia, Huntington's …

Background Spinocerebellar ataxia type 8 (SCA8) is a dominantly inherited expansion
disorder with highly variable penetrance. ATXN8OS/ATXN8 expanded alleles have been …

The human genome contains numerous genetic polymorphisms contributing to different
health and disease outcomes. Tandem repeat (TR) loci are highly polymorphic yet under …

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder leading to upper and
lower motoneurons degeneration. Although several mechanisms potentially involved in …