A5062989872- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Pancreatitis Pathology and Treatment
- Myasthenia Gravis and Thymoma
- Modeling, Simulation, and Optimization
- Neuroblastoma Research and Treatments
- Advanced Control Systems Optimization
- Peptidase Inhibition and Analysis
- Biomedical Ethics and Regulation
- Cancer Mechanisms and Therapy
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Cyclone Separators and Fluid Dynamics
- Neurological diseases and metabolism
Medical University of Sofia
2017-2024
Alexandrovska Hospital
2016-2024
Congenital myasthenic syndromes (CMS) are a group of rare but often treatable inherited disorders neuromuscular transmission characterized by fatigable skeletal muscle weakness. In this paper we present the largest phenotypic analysis to date cohort patients carrying pathogenic variant c.1327delG in CHRNE gene, leading CHRNE-CMS.
Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It a multisystemic disorder multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance mission improving trial readiness for neuromuscular diseases) and Marigold Foundation held workshop key opinion leaders agree minimal dataset patient registries myotonic...
Charcot-Marie-Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in N-Myc Downstream Regulated 1 gene (
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a rare, autosomal-dominant (AD) multisystem disorder resulting from the extracellular deposition of amyloid fibrils formed by destabilized mutant form (TTR), transport protein predominantly produced liver.The aims current study are to demonstrate Bulgarian experience with screening programs among high-risk patient population over last 7 years, present results therapy TTR stabilizer in our cohort, as well stress on importance...