A5032602539- RNA regulation and disease
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- Fetal and Pediatric Neurological Disorders
- RNA Research and Splicing
- Folate and B Vitamins Research
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Virology and Viral Diseases
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Glycogen Storage Diseases and Myoclonus
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- Genetic Neurodegenerative Diseases
- Advanced Nanomaterials in Catalysis
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Hereditary Neurological Disorders
- Autism Spectrum Disorder Research
- Psychosomatic Disorders and Their Treatments
Istanbul University-Cerrahpaşa
2016-2025
Istanbul University
2010-2019
Marmara University
2019
Turkish Society of Hematology
2019
Amsterdam UMC Location Vrije Universiteit Amsterdam
2018
Amsterdam Neuroscience
2018
Children's Hospital Zagreb
2018
University of Zagreb
2018
Medical University of Silesia
2018
Başkent University
2014-2015
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified founder mutation in four independent pedigrees cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is multifunctional kinase implicated tRNA, mRNA, siRNA maturation. Kinase activity the mutant protein was defective, tRNA endonuclease complex (TSEN) destabilized, resulting impaired pre-tRNA cleavage....
Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in brain. We describe three siblings from consanguineous union with previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity upper motor neuron dysfunction. Through homozygosity mapping affected individuals followed by whole-exome sequencing index...
Such neuropsychiatric symptoms as autism spectrum disorders, attention-deficit/hyperactivity disorder (ADHD), intellectual disability, aggression, and epilepsy are very common in patients with tuberous sclerosis complex (TSC). Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, is recent effective treatment for TSC giant cell astrocytomas renal angiomyolipoma, it has been shown to have potential reduce tumor volume. However, there paucity studies on the effects everolimus symptoms....
Adaptor protein complex‐4 (AP4) is a component of intracellular transportation proteins, which thought to have unique role in neurons. Recently, mutations affecting all four subunits AP4 ( AP4M1 , AP4E1 AP4S1 and AP4B1 ) been found cause similar autosomal recessive phenotype consisting tetraplegic cerebral palsy intellectual disability. The aim this study was analyzing genes three new families with phenotype, discussing their clinical findings an emphasis on neuroimaging facial features....
To provide an overview of clinical and MRI characteristics the different variants leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) identify possible differentiating features.We performed international multi-institutional, cross-sectional observational study in patients genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians retrospective chart review.We included 204 classic MLC, 187 whom had recessive mutations MLC1 (MLC1...
Abstract Patients admitted to movement disorders outpatient unit at a university hospital between January 2002 and June 2007 were screened for psychogenic (PMDs). Out of 1,743 patients, 49 patients (2.8%), including four children, diagnosed have PMDs. Women men ratio was 34/15. The mean age the age‐at‐onset 41 ± 17 years 36 15 in adult group, 10 2 9 children. Among whole 44% had tremor, 24% dystonia, 12% pure gait disorders, 8% parkinsonism, 6% chorea‐ballism, 4% tic disorder. PMD developed...
Autism spectrum disorders (ASDs) are a major health problem because of their high prevalence in the general population. The pathophysiology ASD remains unclear, although genetic defects may be detected 10-20% affected patients. Among these cases, inherited metabolic (IMD) has not been extensively evaluated. IMDs responsible for ASDs usually identified via clinical manifestations such as microcephaly, dysmorphic features, convulsions, and hepatosplenomegaly. Infrequently, patients with no...
Cerebral cortex development in humans is a highly complex and orchestrated process that under tight genetic regulation. Rare mutations alter gene expression or function can disrupt the structure of cerebral cortex, resulting range neurological conditions1. Lissencephaly ('smooth brain') spectrum disorders comprise group rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy intellectual disability2. However, molecular mechanisms underlying disease...
Giant axonal neuropathy (GAN) is a severe early onset neurodegenerative disorder affecting both the peripheral nerves and central nervous system. The diagnosis based on presence of characteristic giant axons nerve biopsy. In GAN, integrity intermediate filament network altered. Indeed, abnormal accumulation filaments has been reported in different cell types, including swollen axons, which are filled with neurofilaments. We identified defective protein, gigaxonin, unknown function, fourteen...