Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort.

An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG), at AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and late-onset sporadic ataxia. Biallelic positive cases carry a common recessive risk haplotype, "AAGA," spanning RFC1 gene. In this study, our aim is to find prevalence of bi-allelic (AAGGG) in Indian ataxia and other neurological disorders and investigate the complexity of RFC1 repeat locus and its potential association with neurodegenerative diseases in Indian population-based cohorts.

Crystal structure and proton conductivity of BaSnScO : insights from neutron powder diffraction and solid-state NMR spectroscopy.

The solid-state synthesis and structural characterisation of perovskite BaSn Sc O ( = 0.0, 0.1, 0.

Local structure and ionic conductivity in the Zr(2)Y(2)O(7)-Y(3)NbO(7) system.

The Zr(0.5-0.5x)Y(0.