A5051949158- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Engineering and Materials Science Studies
- Maritime Navigation and Safety
- Metabolism and Genetic Disorders
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- RNA regulation and disease
- Porphyrin Metabolism and Disorders
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Regional Development and Management Studies
- Civil and Structural Engineering Research
- Multi-Criteria Decision Making
- Parkinson's Disease Mechanisms and Treatments
- Maritime Security and History
- Histone Deacetylase Inhibitors Research
- Brain Metastases and Treatment
- Structural Analysis of Composite Materials
- Epigenetics and DNA Methylation
- Phytochemistry and Biological Activities
- Esophageal and GI Pathology
- Polymer Science and Applications
Ludwig-Maximilians-Universität München
2013-2024
University of Split
2022-2023
Friedrich Baur Stiftung
2015-2022
Amsterdam UMC Location Vrije Universiteit Amsterdam
2015
To provide a systematic evaluation of the broad clinical variability in Friedreich ataxia (FRDA), multisystem disorder presenting mainly with afferent but also complex phenotype nonataxia symptoms.From large database European Friedreich's Ataxia Consortium for Translational Studies, 650 patients genetically confirmed FRDA were included. Detailed data medical history documentation, questionnaires, and reports on features analyzed to in-depth description profile frequency rates phenotypical...
ABSTRACT Background Variants in genes of the nucleotide excision repair (NER) pathway have been associated with heterogeneous clinical presentations ranging from xeroderma pigmentosum to Cockayne syndrome and trichothiodystrophy. NER deficiencies manifest photosensitivity skin cancer, but also developmental delay early‐onset neurological degeneration. Adult‐onset features reported only a few cases, all showing at least mild manifestations. Objective The aim this multicenter study was...
Re-irradiation is a reasonable second treatment option for patients with recurrent malignant glioma (MG) after previous radio(chemo)therapy. However, only limited data available allowing precise selection of suitable re-treatment in regard to safety and efficacy. Using the department database, 58 two courses percutaneous radiation were identified. Besides classical dose-volume histogram (DVH) parameters equivalent uniform dose (EUD) values calculated tumor organs at risk (OARs),...
Selecting a vehicle to monitor navigational safety is an important goal, especially in search and rescue operations. It depends on the criteria set type of equipment use. The study aimed select optimal according criterion. In decision-making, AHP method was used analyze rank selection types. As most criterion, results point reliability different weather conditions SAR vessel as first choice for interventions monitoring Croatia. process, methodology pointed directly significant inconsistency...
Abstract Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an ultraorphan neurogenetic disease from the group of with brain iron accumulation (NBIA) disorders. Here we report cross-sectional and longitudinal data to define phenotype, assess progression estimate sample sizes for clinical trials. We enrolled patients genetically confirmed MPAN Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) registry cohort study, additional sites. Linear mixed-effect modelling...
Abstract Mitochondrial disease is a group of rare conditions, with no approved treatment to date, except for Leber hereditary optic neuropathy. Therapeutic options alleviate the symptoms mitochondrial are urgently needed. Sonlicromanol promising candidate, as it positively alters key metabolic and inflammatory pathways associated disease. reductive oxidative distress modulator, selectively inhibiting microsomal prostaglandin E1 synthase activity. This Phase 2b program, aiming at evaluating...
Introduction Friedreich ataxia (FA) is the most common hereditary in Europe, characterised by progressively worsening movement and speech impairments with a typical onset before age of 25 years. The symptoms affect patients’ health-related quality life (HRQoL) psychosocial health. FA leads to an increasing need for care, associated economic burden. Little known about impact on daily lives HRQoL. To fill that gap, we will assess patient-reported, outcomes using momentary data assessment via...
The promotion of gender equality and women’s empowerment is one the main goals United Nations. aim this study to analyze gradual change conservative perceptions about role women in shipping. Maritime education training institutions are fully involved process. Nikola Vaptsarov Naval Academy Split University’s Faculty Studies a part process general human attitude towards acceptance on merchant ships. Data female admittance graduation collected by both academies. In period examined, i.e. 2012 –...