A5026730559- Amyotrophic Lateral Sclerosis Research
- EEG and Brain-Computer Interfaces
- Neurogenetic and Muscular Disorders Research
- Functional Brain Connectivity Studies
- Neural dynamics and brain function
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Genetic Neurodegenerative Diseases
- Muscle activation and electromyography studies
- Neuroscience and Neural Engineering
- Glioma Diagnosis and Treatment
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- RNA Research and Splicing
- Neuroscience of respiration and sleep
- Motor Control and Adaptation
- RNA modifications and cancer
- Advanced Neuroimaging Techniques and Applications
- Circular RNAs in diseases
- Botulinum Toxin and Related Neurological Disorders
- Memory and Neural Mechanisms
- Advanced MRI Techniques and Applications
- MicroRNA in disease regulation
- Neurobiology of Language and Bilingualism
Ljubljana University Medical Centre
2016-2025
University of Ljubljana
1999-2024
Ludwig-Maximilians-Universität München
2024
Friedrich Baur Stiftung
2024
University Medical Center
2022
The University of Queensland
2021
Illumina (United States)
2021
Neurology, Inc
2017
Abstract Amyotrophic lateral sclerosis is a late-onset disorder primarily affecting motor neurons and leading to progressive lethal skeletal muscle atrophy. Small RNAs, including microRNAs (miRNAs), can serve as important regulators of gene expression act both globally in tissue-/cell-type-specific manner. In muscle, miRNAs called myomiRs govern processes are deregulated various disorders. Several have shown promise for therapeutic use cellular animal models ALS; however, the exact miRNA...
Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG SGCD genes. In 2016, several clinicians involved diagnosis, management care patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim present study was to determine clinical genetic spectrum large cohort sarcoglycanopathy Europe. This an observational retrospective...
Abstract The phase III double-blind PROPEL study compared the novel two-component therapy cipaglucosidase alfa + miglustat (cipa mig) with alglucosidase placebo (alg pbo) in adults late-onset Pompe disease (LOPD). This ongoing open-label extension (OLE; NCT04138277) evaluates long-term safety and efficacy of cipa mig. Outcomes include 6-min walk distance (6MWD), forced vital capacity (FVC), creatine kinase (CK) hexose tetrasaccharide (Hex4) levels, patient-reported outcomes safety. Data are...
Circular RNAs (circRNAs) are emerging as a novel, yet powerful player in many human diseases. They involved several cellular processes and becoming noteworthy type of biomarkers. Among other functions, circRNAs can serve RNA sponges or scaffolds for RNA-binding proteins. Here, we investigated microarray expression profile leukocyte samples from ALS patients age- sex-matched healthy controls to identify differentially expressed circRNAs. We selected 10 them qPCR validation on larger set...
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause a majority sporadic remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed evaluate differential expression 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which connection ALS was shown previously culture cells, animal...
Patients treated with vincristine predictably develop peripheral neuropathy. The aim of our study was to investigate the pattern vincristine-induced neuropathy in children by nerve conduction studies and somatosensory-evoked potentials (SSEPs). We included data from 39 who received for various pediatric malignancies, we performed initial follow-up (after a minimum 4 doses 1.5 mg/m) 27 patients SSEPs 34 patients. On most prevalent symptoms were paresthesias (44%) constipation (22%), common...
Inflammation and oxidative stress are recognized as important contributors to amyotrophic lateral sclerosis (ALS) disease pathogenesis. Our aim was evaluate the impact of selected single-nucleotide polymorphisms in genes involved inflammation on ALS susceptibility modification. One-hundred-and-eighty-five patients 324 healthy controls were genotyped for nine seven antioxidant inflammatory using competitive allele-specific PCR. Logistic regression; nonparametric tests survival analysis used...
To evaluate the mechanism and level of upper airway obstruction in obstructive sleep apnea (OSA) patients during natural sleep, together with synchronous electroencephalogram respiratory events registration at 3-Tesla magnetic resonance imaging (MRI) platform high spatial temporal resolution.A prospective cohort study 20 randomly selected OSA patients.Fifteen were able to complete spontaneous MRI. While asleep, dynamic MR images pharynx obtained midline sagittal view. During scan, nasal oral...
This report presents the clinical course, neuropathology and ultrastructure of neuronal tau inclusions four Slovene relatives with P364S MAPT mutation.The history three out mutation carriers was taken. After formalin fixation, thorough sampling central nervous system followed by paraffin embedding, H&E, Gallyas, Bielschowsky immunostaining AT8, anti-3R, anti-4R tau, anti-amyloid-β, anti-TDP43 anti-alpha-synuclein antibodies. The distribution density different types were semiquantitatively...
Background: Pediatric investigation plans (PIPs) describe how adult drugs can be studied in children. In 2015, PIPs for Amyotrophic Lateral Sclerosis (ALS) became mandatory European marketing-authorization of treatments, unless a waiver is granted by the Medicines Agency (EMA).Objective: To assess feasibility clinical studies on effect therapy children (<18 years) with ALS Europe.Methods: The EMA database was searched submitted ALS. A questionnaire sent to 58 centers collect prevalence...
Abstract Expression of acetylcholine receptors (AChRs) in the extrajunctional muscle regions, but not neuromuscular junctions, is repressed by propagated electric activity fibers. During regeneration, subsynaptic‐like specializations accumulating AChRs are induced new myotubes agrin attached to synaptic basal lamina at places former motor endplates even absence innervation. We examined whether still accumulated these when regenerating muscles were ectopically innervated and became...
Objective: The Ljubljana ALS Centre, established in 2002, is the only tertiary center for amyotrophic lateral sclerosis (ALS) Slovenia. aim of our study was to evaluate impact therapeutic interventions and improvements multidisciplinary care on survival patients.Methods: All patients diagnosed with at during years 2003–2005 (early group) 2011–2012 (late were included this retrospective cohort (n = 124). Kaplan-Meier analysis multiple regression Cox proportional hazards model performed...