Publications by authors named "A Marjanovic"
Article Synopsis
- Exome sequencing (ES) can reveal secondary findings unrelated to the primary reason for testing, which may benefit patient care.
- In this study, researchers analyzed 81 relevant genes in 443 patients with neurological disorders and identified 17 variants in 9 genes categorized into cancer, cardiovascular, and miscellaneous phenotypes.
- Most of the variants were classified as either known pathogenic or expected pathogenic, suggesting that these findings could help prevent serious health issues and enhance understanding of genetic factors in the Serbian population.
Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open reading frame 72 (C9orf72), pathogenic/likely pathogenic variants in progranulin (GRN), and microtubule-associated protein tau (MAPT) genes. Until now, there has been no systematic analysis of these genes in the Serbian population. Herein, we assessed the frequency of the C9orf72 expansion, pathogenic/likely pathogenic variants in GRN and MAPT in a well-characterized group of 472 subjects (FTD, Alzheimer's disease - AD, mild cognitive impairment - MCI, and unspecified dementia - UnD), recruited in the Memory Center, Neurology Clinic, University Clinical Center of Serbia.
View Article and Find Full Text PDFHereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed.
View Article and Find Full Text PDFBackground: The newly discovered intronic repeat expansions in the genes encoding replication factor C subunit 1 (RFC1) and fibroblast growth factor 14 (FGF14) frequently cause late-onset cerebellar ataxia.
Objectives: To investigate the presence of RFC1 and FGF14 pathogenic repeat expansions in Serbian patients with adult-onset cerebellar ataxia.
Methods: The study included 167 unrelated patients with sporadic or familial cerebellar ataxia.
Background: Biallelic pathogenic variants in the ANO10 gene cause autosomal recessive progressive ataxia (ATX-ANO10).
Methods: Following the MDSGene protocol, we systematically investigated genotype-phenotype relationships in ATX-ANO10 based on the clinical and genetic data from 82 published and 12 newly identified patients.
Results: Most patients (>80%) had loss-of-function (LOF) variants.