In this study, we explore the landscape of short tandem repeats (STRs) within the human
genome through the lens of evolving technologies to detect genomic variations. STRs, which …

Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by
parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is …

GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene
silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset …

Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …

Context Trinucleotide repeats in the androgen receptor have been proposed to influence
testosterone signaling in men, but the clinical relevance of these trinucleotide repeats …

ABSTRACT Introduction Spinal and Bulbar Muscular Atrophy (SBMA) is a slowly
progressive, X-linked and sex-limited degenerative disorder affecting lower motor neurons …

Spinal bulbar muscular atrophy (also known as Kennedy disease) was recently described to
have a high prevalence among Indigenous people in the prairie provinces of western …

Background Recent studies have reported that expanded GCA repeats in the GLS gene can
cause glutaminase deficiency with ataxia phenotype. However, to data, no studies have …

Abstract Background/Objectives: Prostate cancer (PCa) is the leading malignancy and the
third most common cause of cancer-related death in Argentinian men. Predicting outcomes …

GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene
silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset …