A5102011841- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Genetics and Neurodevelopmental Disorders
- Neurological and metabolic disorders
- Autism Spectrum Disorder Research
- Fibroblast Growth Factor Research
- Neurological diseases and metabolism
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Neuroscience of respiration and sleep
- Medication Adherence and Compliance
- Connective tissue disorders research
- RNA regulation and disease
- Amyotrophic Lateral Sclerosis Research
- Steroid Chemistry and Biochemistry
- Organic Chemistry Cycloaddition Reactions
- Restless Legs Syndrome Research
- Neurological disorders and treatments
- Chemical Synthesis and Analysis
Centar za Promociju Nauke
2024-2025
University of Belgrade
1988-2024
Univerzitetski Klinički Centar Srbije
2023-2024
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...
Objective Cerebellar neurodegenerative disorders (CDs) are a heterogeneous group of disorders. It is known that the cerebellum plays role not only in motor, but also cognitive and social functions. The aim this study was to investigate cognition patients with different CDs. Materials Methods Social examined 34 patients, 12 spinocerebellar ataxia type 1 (SCA1), 6 2 (SCA2), 16 idiopathic late onset cerebellar (ILOCA). All were clinically evaluated using Scale for Rating Assessment Ataxia. In...
Adherence to medication is an important factor that can influence Parkinson's disease (PD) control. We aimed explore patients' adherence antiparkinsonian and determine factors might affect medications among PD patients.A cross-sectional, exploratory survey of patients treated with at least one drug a total score MoCA (Montreal Cognitive Assessment) ≥26 was conducted. The final sample included 112 patients. A patient's assessed through ARMS (Adherence Refills Medications Scale). scores higher...
Deep intronic FGF14 repeat expansions have been identified as a frequent genetic cause of late-onset cerebellar ataxias, explaining up to 30% patients. Interruptions between repeats previously impact the penetrance in other expansion disorders. Repeat interruptions within yet be characterized detail. We utilized long-range PCR, Sanger sequencing, repeat-primed Nanopore, and PacBio sequencing distinguish motifs, mosaicism, number present FGF14-related ataxia patients unaffected individuals....
Recent studies explored polymorphisms of multiple genes as contributing to genetic susceptibility psychosis in Parkinson's disease (PDP).We aimed examine the association seven selected related dopamine pathways with PDP development. At same time, demographic and clinical correlates were assessed.PD patients (n = 234), treated levodopa for at least two years, genotyped rs4680 COMT, rs6277, rs1076560, rs2283265 DRD2, rs1800497 rs2734849 ANKK1 genes. Also, variable number tandem repeats...
In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients’ health related to quality of life (HRQoL). The aim this study was evaluate the various aspects HRQoL and predictors QoL in patients with ataxias. We included total 107 degenerative ataxia. Patients filled out validated Serbian version SF-36 used for assessment HRQoL. All were clinically evaluated using SARA, INAS, neuropsychological tests assess their global...
Cerebellar neurodegenerative ataxias are a group of disorders affecting the cerebellum and its pathways with different neurological structures. Transcranial sonography (TCS) has been used for evaluation brain parenchymal structures in various diseases because fast safe utilization, especially neuropsychiatric diseases. The aim our study was to investigate TCS characteristics patients cerebellar ataxias. In study, we included 74 degenerative ataxia; 36.5% had autosomal dominant onset, while...
Background/Objectives: Degenerative cerebellar ataxias (DCA) present a group of complex neurological disorders primarily affecting the cerebellum and its pathways. Classic manifestations include motor symptoms ataxia. However, emerging evidence suggests that also plays crucial role in various cognitive emotional processes. The objective was to assess psychiatric profile heterogeneous patients with degenerative Methods: Our sample comprised 107 participants diagnosed All were clinically...
Abstract (E)‐Δ 1 (10) ‐unsaturated 5‐oxo‐5,10‐seco‐steroids such as 1, react with hydroxylamine and N‐methylhydroxylamine to give stereospecifically isoxazolidine derivatives of type 2 3, respectively. The molecular structure 3a obtained from (E)‐3β‐acetoxy‐5,10‐seco‐cholest‐1 (10)‐en‐5‐one (la) has been determined by X‐ray analysis.