Search Results - "Kecmanovic, Miljana"
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Lafora disease: Severe phenotype associated with homozygous deletion of the NHLRC1 gene
Published in Journal of the neurological sciences (15-02-2013)“…Abstract Lafora disease (LD) is a severe, autosomal recessive, latechildhood- to teenage-onset, progressive myoclonic epilepsy. It is due to either EPM2A or…”
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Genetics of Lafora progressive myoclonic epilepsy: current perspectives
Published in Application of clinical genetics (01-01-2016)“…Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3…”
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A Shared Haplotype Indicates a Founder Event in Unverricht-Lundborg Disease Patients from Serbia
Published in International journal of neuroscience (01-02-2014)“…Unverricht-Lundborg disease (ULD) is an autosomal recessive disorder caused by dodecamer repeat expansion in the promoter region of the cystatin B (CSTB) gene…”
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Coexistence of Unverricht‐Lundborg disease and congenital deafness: Molecular resolution of a complex comorbidity
Published in Epilepsia (Copenhagen) (01-06-2009)“…Summary Purpose: We report on genetic analysis of a complex condition in a Serbian family of four siblings, wherein two had progressive myoclonic epilepsy…”
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Schizophrenia and Apolipoprotein E Gene Polymorphism in Serbian Population
Published in International journal of neuroscience (01-05-2010)“…ABSTRACT Apolipoprotein E (APOE) gene variants are associated with alterations in brain function and increased risk of Alzheimer's disease (AD) and conflicting…”
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Is adjunctive perampanel beneficial for lafora disease?
Published in Vojnosanitetski pregled (2020)“…Backgrund/Aim. Lafora disease (LD) is progressive myoclonus epilepsy, characterized by intractable myoclonus and seizures, inevitable neurological…”
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Polymorphisms of the Prion Protein Gene (PRNP) in a Serbian Population
Published in International journal of neuroscience (01-05-2010)“…ABSTRACT Prion diseases are a group of etiologically heterogenous neurodegenerative disorders. We have analyzed the coding region of PRNP gene in 121 healthy…”
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Phylogeography of Y-chromosome haplogroup I-P37.2 in Serbian population groups originating from distinct parts of the Balkan Peninsula
Published in Forensic science international : genetics (01-01-2025)“…Genetic structure of the contemporary Serbian population was shaped by a long history of turbulent historical and demographical events. The most important…”
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Distribution of Y-chromosome haplogroups in Serbian population groups originating from historically and geographically significant distinct parts of the Balkan Peninsula
Published in Forensic science international : genetics (01-11-2022)“…Our study enrolled 1200 Serbian males originating from three geographical regions in the Balkan Peninsula inhabited by Serbs: present-day Serbia, regions of…”
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Comparison of different methods of DNA recovery and PCR amplification in STR profiling of casings—a retrospective study
Published in International journal of legal medicine (01-11-2018)“…Casings represent common evidence in a forensic laboratory, due to high frequency of firearms usage during perpetration of criminal offenses. Possible DNA…”
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Assessment of mutation rates for PPY23 Y chromosome STR loci in Serbian father-son pairs
Published in Forensic science international : genetics (01-03-2019)Get full text
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Identification of a broad spectrum of mammalian and avian species using the short fragment of the mitochondrially encoded cytochrome b gene
Published in Forensic science, medicine, and pathology (01-06-2019)“…Mitochondrial DNA (mtDNA), especially the gene for cytochrome b (MT-CYB), has been found to be highly informative for species identification. In this study, we…”
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GSTA1 , GSTM1 , GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case–control study
Published in Seizure (London, England) (01-11-2015)“…Highlights • GSTT1-null genotype might increase the risk of progressive myoclonus epilepsy (PME). • Major antioxidant enzymes (SOD and GPX) activities are…”
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Evaluation of the IrisPlex system for eye colour prediction in the Serbian population
Published in Genetika (Beograd) (2023)“…DNA-based prediction of a physical appearance, also known as DNA phenotyping, is a rapidly developing field with great potential for solving difficult forensic…”
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Differentiation of Cannabis subspecies by THCA synthase gene analysis using RFLP
Published in Journal of forensic and legal medicine (01-10-2017)“…Cannabis sativa subspecies, known as industrial hemp (C. sativa sativa) and marijuana (C. sativa indica) show no evident morphological distinctions, but they…”
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Analysis of PMP22 duplication and deletion using a panel of six dinucleotide tandem repeats
Published in Clinical chemistry and laboratory medicine (01-05-2016)“…Charcot-Marie-Tooth type 1A (CMT1A) is the most common type of hereditary motor and sensory neuropathies (HMSN), caused by the duplication of the 17p11.2…”
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Clinical Center for the Lafora Epilepsy Cure Initiative (LECI): Clinical Trial Readiness for a Global Curative Drug Trial (P4.245)
Published in Neurology (18-04-2017)“…Abstract only…”
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A novel P66S mutation in exon 3 of the SOD1 gene with early onset and rapid progression
Published in Amyotrophic lateral sclerosis (01-02-2012)“…Abstract Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease in adults of unknown origin in most cases. Here we report a novel P66S mutation in…”
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An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth
Published in Genetic testing and molecular biomarkers (01-01-2013)“…Charcot-Marie Tooth (CMT) is a clinically and genetically heterogeneous group of diseases with rough genotype-phenotype correlation, so the final diagnosis…”
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Mutational analysis of GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in Serbian Charcot-Marie-Tooth patients
Published in Journal of the peripheral nervous system (01-06-2009)“…We report the results of mutational analysis in the following genes: GJB1, MPZ, PMP22, EGR2, and LITAF/SIMPLE in 57 Charcot‐Marie‐Tooth (CMT) patients of…”
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