A5059817026- Diphtheria, Corynebacterium, and Tetanus
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Forensic and Genetic Research
- Botulinum Toxin and Related Neurological Disorders
- Myasthenia Gravis and Thymoma
- Bacterial Infections and Vaccines
- Hereditary Neurological Disorders
- Protein Tyrosine Phosphatases
- Genetic Neurodegenerative Diseases
- Genetic Associations and Epidemiology
- Trace Elements in Health
- Molecular Biology Techniques and Applications
- Neurological diseases and metabolism
- Zoonotic diseases and public health
- Intramuscular injections and effects
- Forensic Anthropology and Bioarchaeology Studies
- Plant-based Medicinal Research
- Epigenetics and DNA Methylation
- Pericarditis and Cardiac Tamponade
- Genetic Syndromes and Imprinting
- Parasites and Host Interactions
- Autoimmune Neurological Disorders and Treatments
- Poxvirus research and outbreaks
- Kawasaki Disease and Coronary Complications
University of Belgrade
2012-2024
Center for Human Genetics
2016
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin most cases. Here we report novel P66S mutation exon 3 the SOD1 gene an apparently sporadic ALS patient with unusual early onset and rapid progression. Our data widen spectrum mutations clinical presentations ALS.
We report the results of mutational analysis in following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE 57 Charcot-Marie-Tooth (CMT) patients Serbian origin without PMP22 duplication. found 10 different mutations 14 CMT patients: 6 3 1 PMP22. Five six GJB1 are reported for first time, most frequent one appears to be a founder mutation population. No were EGR2 or LITAF. Thus, should done duplication male-to-male transmission CMT.
Apolipoprotein E (APOE) gene variants are associated with alterations in brain function and increased risk of Alzheimer's disease (AD) conflicting results have been reported schizophrenia. Our showed no significant differences APOE allele or genotype frequencies between the Serbian schizophrenic patients control individuals. However, we observed a possible association particular subtypes schizophrenia ε3/ε3 (p = .01221) ε4 tendency toward positive responding to typical neuroleptics....
Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline poor prognosis. LD caused mutations either in the EPM2A or NHLRC1 genes. Here we report clinical genetic findings on 14 patients from 10 families of Serbian/Montenegrin origin. Molecular diagnostics was performed sequencing coding regions In addition, haplotype analysis chromosomes carrying two most frequent (c.1048-1049delGA...
Saitohin (STH) is located in the intron of human gene for microtubule-associated protein tau. Q7R polymorphism has been identified STH gene. Some neurodegenerative disorders were found to be associated with presence certain allele. This study genotyped 37 subjects diagnosis Huntington's disease, but lacking mutations HD, PRNP, JPH-3, and FTL genes polymorphism. It was determined that Q allele over-represented a tested group patients (P > Pt). Over-representation might considered as genetic...
Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder caused by dodecamer repeat expansion in the promoter region of cystatin B (CSTB) gene approximately 90% alleles worldwide. This study presents results genetic findings four Serbian unrelated patients with clinical and molecular diagnosis ULD. Using newly established PCR protocol betaine, we detected a homozygous repeats CSTB Our are agreement previous studies showing that most common mutation associated Haplotype analysis...
Charcot-Marie Tooth (CMT) is a clinically and genetically heterogeneous group of diseases with rough genotype-phenotype correlation, so the final diagnosis requires extensive clinical electrophysiological examination, family data, gene mutation analysis. Although there common pattern genetic basis CMT, could be some population differences that should taken into account to facilitate analyses. Here we present algorithm for testing in Serbian patients demyelinating based on their...
Background – Rett syndrome is a severe neurodevelopmental X-linked dominant disorder affecting 1/15,000 girls worldwide. Eight years ago, the MECP2 gene was associated with devastating clinical features observed in patients. Objectives To investigate spectrum and frequency of mutations Serbian Patients methods We screened coding region by conventional mutational screening (single-strand conformation polymorphism/sequencing) 24 patients origin their 41 unaffected family members. In search for...
Charcot-Marie-Tooth type 1A (CMT1A) is the most common of hereditary motor and sensory neuropathies (HMSN), caused by duplication 17p11.2 region that includes PMP22 gene. Reciprocal deletion same main cause neuropathy with liability to pressure palsies (HNPP). CMT1A accounts for approximately 50% HMSN patients. Diagnostics HNPP are based on quantitative analysis affected or RFLP detection breakage points. The aim this study was improve sensitivity efficiency genetic diagnostics introducing...
Genetic variability of Roma population was shaped by the strong influence genetic drift and gene flow during migrations from their ancestral homeland in Indian subcontinent towards Europe. In addition, social stigmatization many European countries, as a consequence different cultural heritage practices, induced further differentiation sub structuring within population. Although populations studies on were carried out, structure Serbian has not been described yet, since only modest number...
We report on genetic analysis of a complex condition in Serbian family four siblings, wherein two had progressive myoclonic epilepsy (PME) and congenital deafness (CD), one isolated (ICD), was healthy.Molecular diagnosis performed by Southern blotting confirmed Unverricht-Lundborg disease the available sibling with PME/CD. In ICD (heterozygote for expansion mutation CSTB) we demonstrated recombination event between D21S2040 marker CSTB gene identified c.207delC (p.T70Xfs) fourth exon...
Prion diseases are a group of etiologically heterogenous neurodegenerative disorders. We have analyzed the coding region PRNP gene in 121 healthy citizens Serbia to determine whether frequencies M129V, E219K, and octapeptide repeat number polymorphism. For Serbian population, polymorphism at codon 129 does not differ from European populations. Also 219 is monomorphic for Glu allele both population other On contrary, we did detect any deletions or insertions region, whereas were detected