A5076419214- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Mitochondrial Function and Pathology
- Peripheral Neuropathies and Disorders
- Reproductive Health and Technologies
- COVID-19 Impact on Reproduction
- Hereditary Neurological Disorders
- Reproductive Biology and Fertility
- Drug-Induced Ocular Toxicity
- Parkinson's Disease Mechanisms and Treatments
- Retinal and Macular Surgery
- BRCA gene mutations in cancer
- Epigenetics and DNA Methylation
- Peripheral Nerve Disorders
- Ovarian function and disorders
University of Belgrade
2022-2024
Centar za Promociju Nauke
2021
Background The aim of the study was to detect changes in retinal and choroidal vasculature via optical coherence tomography angiography (OCTA) by comparing quantitative OCTA parameters patients with without myotonic dystrophies (DM). Material cross-sectional study. Forty-one consecutive affected DMs were enrolled. inclusion criteria molecular diagnosis DM types 1 2. To avoid age effect on microvascular justify a comparison between DM1 DM2 patients, two control groups matched for sex...
Making diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is challenging since it can mimic a multitude disorders, and misdiagnosed in at least 50% cases. We sought to determine the frequency CIDP misdiagnosis clinical practice Serbia, uncover mimics, identify factors that may aid diagnosis. Our longitudinal retrospective cohort study included 86 eligible adult patients referred Neurology Clinic, University Clinical Centre with CIDP. also 15 us different diagnoses...
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder. Previous studies conducted on small cohorts of DM2 patients indicated presence a cognitive dysfunction. We aimed to assess functions in larger cohort Serbian using extensive battery neuropsychological tests. The study included 76 with genetically confirmed DM2, 68 whom had all tests for different domains performed. Patients underwent clinical and testing, including screening assessment general intellectual...
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | 1479-6848 (online)
Abstract Exome sequencing (ES) may identify and report secondary findings that are unrelated to the primary disease for which patient underwent genetic testing, but of potential value in care. In this study, we evaluated 81 American College Medical Genetics (ACMG) medically actionable genes 443 patients with various neurological disorders. The variants identified were classified reported following 2015 ACMG Standards Guidelines interpretation sequence recommendations reporting (v3.2). We...