A5052959545- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Ion channel regulation and function
- Botulinum Toxin and Related Neurological Disorders
- Epilepsy research and treatment
- Neurogenetic and Muscular Disorders Research
- Skin and Cellular Biology Research
- Amino Acid Enzymes and Metabolism
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- RNA and protein synthesis mechanisms
- Facial Nerve Paralysis Treatment and Research
- DNA Repair Mechanisms
- Infectious Diseases and Tuberculosis
- Dermatological and Skeletal Disorders
- Metabolism and Genetic Disorders
- Peripheral Neuropathies and Disorders
- Protein Kinase Regulation and GTPase Signaling
Boğaziçi University
2008-2021
Tokat Gaziosmanpaşa Üniversitesi
2009
Athens State University
2009
Hippocration General Hospital
2009
Azienda Ospedaliera Treviglio
2009
Adult-onset neurological disorders are caused and influenced by a multitude of different factors, including epigenetic modifications. Here, using an ELISA kit selected upon careful testing, we investigated global 5-methylcytosine (5-mC) levels in sporadic familial amyotrophic lateral sclerosis (sALS fALS), spinocerebellar ataxia types 1 2 (SCA1 SCA2), Huntington’s disease, Friedreich’s ataxia, myotonic dystrophy type 1. We report significant elevation 5-mC about 2–7% on average for sALS...
Abstract Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive are more common than Western European populations. Objective To identify the prevalence structure Turkish population. Methods Our cohort consisted 1296 index cases 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed screen for...
Sjögren-Larsson syndrome (SLS) is a rare congenital disorder characterized by the triad of ichthyosis, spasticity, and mental retardation. Patients are usually referred to dermatology clinics during infancy. As paraplegia becomes most debilitating symptom disease within few years, although major burden for patient, takes back seat. Optimum treatment ichthyosis in these children effect on different aspects such as severity pruritus, or quality life patients' their caregivers not well...
Neuropsychiatric side effects of long-term recombinant interferon-α therapy consist a large spectrum symptoms.In the literature, cranial neuropathy, especially Bell's palsy, and movement disorders, have been reported much less often than other neurotoxic effects.We report case palsy in patient with chronic hepatitis C during peginterferon-α ribavirin therapy.The subsequently developed clinically inapparent facial nerve involvement on contralateral showed an increase choreic movements related...
Here, we describe the clinical features of several members same family diagnosed with Friedreich ataxia (FRDA) and cerebral lesions, demyelinating neuropathy, late-age onset without a significant cardiac involvement presenting similar symptoms, although genetic testing was negative for GAA repeat expansion in one patient family. The frataxin gene shown all except young female patient. MRI revealed arachnoid cysts two patients; consistent both cavum septum pellucidum-cavum vergae nodular...
Hereditary ataxias are a group of heterogeneous diseases in regard to their clinical and genetic characteristics. Ataxia that progresses slowly may be accompanied by pyramidal extrapyramidal findings, articulation disorders, ophthalmic movement neuropathic complaints, cognitive behavioral abnormalies, epilepsy. Definitive diagnosis hereditary is based on molecular assays. History, examination, laboratory neuroimaging assist diagnosis. In our study, thirty-seven patients suspected ataxia were...