A5052391208- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Cardiomyopathy and Myosin Studies
- ATP Synthase and ATPases Research
- Myasthenia Gravis and Thymoma
- Prosthetics and Rehabilitation Robotics
- Nuclear Structure and Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sexual Differentiation and Disorders
- Thyroid and Parathyroid Surgery
- Ion channel regulation and function
- Romani and Gypsy Studies
- Cell death mechanisms and regulation
- Adipose Tissue and Metabolism
- Chromosomal and Genetic Variations
- Connective tissue disorders research
- Neonatal Health and Biochemistry
- Microtubule and mitosis dynamics
HUN-REN Szegedi Biológiai Kutatóközpont
2024-2025
Orszagos Kornyezetegeszsegugyi Intezet
2007-2023
National Healthcare Service Center
2023
Semmelweis University
2018
Wellcome Centre for Mitochondrial Research
2015
University Medical Center Freiburg
2015
Newcastle University
2011-2015
Medical Genetics Center
2015
University Hospital Centre Zagreb
2015
University of Zagreb
2015
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability terms of progression than expected. In addition, as average life-expectancy increases, reliable data is req
Abstract The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 an essential protein core, as its depletion causes severe growth defect in yeast. Here we show that homozygous missense mutations cause progressive and lethal neurological disease 22 infants from three independent pedigrees. Affected individuals have cerebellar corpus callosum hypoplasia, abnormal myelination central nervous system or spinal motor...
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of dystrophin protein. Although many novel therapies are under development for DMD, there currently no cure and affected individuals often confined to a wheelchair their teens die in twenties/thirties. DMD rare disease (prevalence <5/10,000). Even largest countries do not have enough patients rigorously assess therapies, unravel complexities, determine patient outcomes. TREAT-NMD worldwide network...
<h3>Background:</h3> Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and recessive inheritance. Patients OPDM present progressive ocular, pharyngeal, distal limb involvement. The genetic defect causing not elucidated. <h3>Methods:</h3> Clinical findings of 47 patients from 9 unrelated Turkish families diagnosed at the Department Neurology, Istanbul Faculty Medicine, between 1982 2009 were evaluated....
The EuroBioBank (EBB) network ( www.eurobiobank.org ) is the first operating of biobanks in Europe to provide human DNA, cell and tissue samples as a service scientific community conducting research on rare diseases (RDs). EBB was established 2001 facilitate access RD biospecimens associated data; it obtained funding from European Commission 2002 (5th framework programme) started operation 2003. set-up phase, during EC period 2003–2006, basis for running network; following consolidation...
Publication of comprehensive clinical care guidelines for Duchenne muscular dystrophy (DMD) in 2010 was a milestone DMD patient management. Our CARE-NMD survey investigates the neuromuscular, medical, and psychosocial patients Europe, compares it to guidelines.A cross-sectional 1677 contacted via TREAT-NMD registries conducted using self-report questionnaires seven European countries.Survey respondents were 861 children 201 adults. Data describe population with mean age 13.0 years (range...
<b><i>Objective:</i></b> Mutation analysis of the acetylcholine receptor (AChR) ε subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). <b><i>Background:</i></b> The nicotinic AChR skeletal muscle is a neurotransmitter-gated ion channel that mediates synaptic transmission at vertebrate neuromuscular junction. Mutations its may cause syndromes. A recently described mutation exon 12 (ε1267delG) disrupts cytoplasmic loop and fourth transmembrane...
We have measured the removal of UV-induced pyrimidine dimers from DNA fragments adenosine deaminase (ADA) and dihydrofolate reductase (DHFR) genes in primary normal human xeroderma pigmentosum complementation group C (XP-C) cells. Using strand-specific probes, we show that cells, preferential repair 5' part ADA gene is due to rapid efficient transcribed strand. Within 8 h after irradiation with UV at 10 J m-2, 70% this strand are removed. The nontranscribed repaired a much slower rate, 30%...
Abstract Rhabdomyolysis is an acute failure of cellular homeostasis resulting in muscle breakdown, triggered by trauma, infection, drugs, or strenuous exercise. Recurrent rhabdomyolysis often associated with genetic and metabolic defects skeletal muscle. The sarcoendoplasmic reticulum Ca2+-ATPase 2 (SERCA2), encoded the ATP2A2 gene, intracellular pump located sarcoplasmic endoplasmic that essential for maintaining calcium (Ca2+) highly expressed slow-twitch Heterozygous loss-of-function...
Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It expressed in skeletal muscle may be sensitive specific marker for mitochondrial diseases other neuromuscular disorders.Serum FGF21 levels were determined 71 human samples. Thirty patients with disease, 16 myotonic dystrophy type 1 (DM1), 5 facioscapulohumeral dystrophy, 20 healthy controls enrolled. Results Serum significantly elevated progressive external ophthalmoplegia DM1 compared types diseases,...
<h3>Objective:</h3> In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. <h3>Methods:</h3> The reported were identified from a cohort 60 in whom RC enzyme deficiency suggested disease underwent whole-exome sequencing. <h3>Results:</h3> Five had disease-causing variants nonmitochondrial genes <i>ORAI1, CAPN3, COLQ, EXOSC8</i>, <i>ANO10</i>, which would...
One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary insufficiency (POF/POI) that defined as loss functional follicles below age 40 years. Among genetic causes most common one involves X chromosome, in Turner syndrome, partial deletion and X-autosome translocations. Here we report a case 27-year-old female patient referred to counselling because failure. The aim this study perform molecular cytogenetic analyses order identify exact background...
Background: Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning dif
Investigation of 31 Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in PDHX gene as most common cause disorder this ethnic group. It accounted around 60% study and over 25% all CLA cases referred to National Genetic Laboratory Bulgaria. The detection a homozygous patient Hungary carriers among population controls Romania Slovakia suggests wide spread European population. clinical phenotype twenty homozygotes was relatively...
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group these metabolic conditions is autosomal recessive type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle. Besides laxa, muscular hypotonia and cardiac abnormalities are hallmarks 2D (ARCL2D) due to pathogenic variants ATP6V1A encoding subunit A v-ATPase. Here, we report on three affected individuals from two families with ARCL2D whom performed whole exome Sanger...