A5023840598- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Genetic Neurodegenerative Diseases
- Botulinum Toxin and Related Neurological Disorders
- Neurological diseases and metabolism
- Trace Elements in Health
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- Balance, Gait, and Falls Prevention
- Hereditary Neurological Disorders
- Advanced Neuroimaging Techniques and Applications
- Heavy Metal Exposure and Toxicity
- Lysosomal Storage Disorders Research
- Restless Legs Syndrome Research
- Transcranial Magnetic Stimulation Studies
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Functional Brain Connectivity Studies
- Autism Spectrum Disorder Research
- Psychosomatic Disorders and Their Treatments
- Advanced MRI Techniques and Applications
- Neurological and metabolic disorders
- Aluminum toxicity and tolerance in plants and animals
University of Belgrade
2015-2024
Centar za Promociju Nauke
2013-2024
Univerzitetski Klinički Centar Srbije
2002-2024
John Wiley & Sons (United States)
2018-2020
Institute of Public Health of Serbia
2017
University of Bonn
2012
Oncology Institute of Vojvodina
2008
Ege University
2006
Institut za Reumatologiju
2005
University of Lübeck
2004
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with -PD were included this international study. The present characterised and investigated for their effect on phenotype. Clinical features progression was also assessed. Among 133 index cases ( n = 582), there 58 (43.6%) structural variants, 34 (25.6%) missense, 20 (15%) frameshift, 10 splice site (7.5%%), 9 (6.8%) nonsense 2 (1.5%) indels. frequent...
Abstract Objective Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found such patients gene encoding the mitochondrial pantothenate kinase (PANK2). Methods We completed mutation screen 72 diagnosis NBIA based on clinical findings radiological imaging. The entire coding region PANK2 (20p12.3) was investigated for point deletions. Results...
Background: Patients with Huntington disease (HD) develop diabetes mellitus more often than do matched healthy controls.Recent studies in neurodegenerative diseases suggested that insulin resistance constitutes a metabolic stressor interacts preexisting neurobiological template to induce given disorder.Objective: To investigate possible changes sensitivity and secretion, major determinants of glucose homeostasis, group consecutive normoglycemic patients HD.Design: Metabolic...
Status dystonicus (SD) is a rare, life-threatening disorder characterized by acute worsening of generalized dystonia.This study was conducted to characterize the pathogenesis, clinical course, and prognosis SD. We reviewed records six centers analyzed them together with all cases previously reported in literature.Eighty-nine episodes occurring 68 patients were studied. The majority males (64.7%), <15 years age (58.8%), had secondary dystonia as underlying condition (37.8%). mainly tonic...
To evaluate the frequency and clinical spectrum of recently identified p.D620N mutation in VPS35 gene Parkinson disease (PD) an international sample.Genetic analysis by DNA sequencing detailed neuropsychiatric assessment as well neuroimaging carriers.Tertiary referral centers Germany, Serbia, Chile, United States.One thousand seven hundred seventy-four patients with PD.Frequency mutation.A single carrier was identified. The a 60-year-old German man who had tremor-dominant PD since age 45...
Abstract Background The newly discovered intronic repeat expansions in the genes encoding replication factor C subunit 1 ( RFC1 ) and fibroblast growth 14 FGF14 frequently cause late‐onset cerebellar ataxia. Objectives To investigate presence of pathogenic Serbian patients with adult‐onset Methods study included 167 unrelated sporadic or familial expansion analysis was performed by duplex PCR Sanger sequencing, while tested for long‐range PCR, repeat‐primed sequencing. Results We identified...
Abstract The frequency and type of dystonic movements, as well brain abnormalities, depicted with magnetic resonance imaging (MRI), which might correlate dystonia, were studied in 27 consecutive patients a neurologic form Wilson's disease (WD) optimized treatment. Dystonia was found 10 (37%), being generalized half them, while two had segmental, multifocal one patient bilateral foot dystonia. presenting sign four developed later the course six patients, despite administered therapy for WD....
Abstract In this study, we wished to test, using magnetic resonance imaging and voxel‐based morphometry (VBM), whether specific cortical subcortical patterns of brain grey (GM) white matter (WM) tissue loss can be detected in patients with Richardson’s syndrome (PSP‐RS) progressive supranuclear palsy‐parkinsonism (PSP‐P), possibly account for their clinical heterogeneity. Twenty PSP, classified as PSP‐RS (10 patients) or PSP‐P patients), 24 healthy controls were studied. The Statistical...
ABSTRACT Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss voluntary motor control when playing the instrument. Little known about genetic risk factors, although MD or writer's (WD) occurs in relatives 20% patients. We conducted a 2‐stage genome‐wide association study whites. Genotypes at 557,620 single‐nucleotide polymorphisms (SNPs) passed stringent quality for 127 patients 984 controls. Ten SNPs...
ABSTRACT Background The neural basis of task specificity in dystonia is still poorly understood. This study investigated gray and white matter (WM) brain alterations patients with task‐specific (TSD) non‐task‐specific (NTSD). Methods Thirty‐six TSD (spasmodic dysphonia, writer's cramp), 61 NTSD (blepharospasm, cervical dystonia), 83 healthy controls underwent 3D T1‐weighted diffusion tensor magnetic resonance imaging (MRI). Whole cortical thickness voxel‐based morphometry; volumes basal...
<b><i>Background:</i></b> Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three–base pair (bp) (GAG) deletion in <i>DYT1</i> gene. Exon rearrangements a common mutation type other genes and have not yet been tested for <i>DYT1</i>. Several lines evidence suggest relationship gene with Parkinson disease (PD). <b><i>Objective:</i></b> To investigate frequency mutations explore associated phenotypes mixed movement disorders patient cohort controls....
Mutations in the Parkin (PARK2) and DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations dosage studies (quantitative PCR) reveal deletions or multiplications of one more exons. A compound heterozygous mutation (exon deletion point mutation; [c.836_972del]+[c.1411C>T]; +1 is first nucleotide GenBank AB009973.1) was identified a...
Background and purpose To screen for glucocerebrosidase ( GBA ) mutations in a Serbian Parkinson's disease (PD) population. Methods Glucocerebrosidase exons 8–11 harbouring the most common were sequenced 360 patients with PD 348 controls from Serbia. Haplotype analysis was performed N370S mutation compared German Ashkenazi Jewish carriers. Results significantly more frequent (21/360; 5.8%) vs. (5/348; 1.4%; OR = 4.25; CI, 1.58–11.40; P 0.0041). Two carried homozygous or compound heterozygous...