Noemi Agnes Varga- Semmelweis University
Noemi Agnes Varga
- Semmelweis University
About
7
Publications
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Citations
Introduction
Current institution
Publications
Publications (7)
We present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with predominant negative psychiatric features and multilevel evidence of mitochondrial dysfunction who responded to the cariprazine treatment. He had delayed speech development and later experienced severe social anxiety, learning disabilities, cognitive slowing, and predom...
Background
Autism spectrum disorder (ASD) is genetically and phenotypically heterogeneous. Former genetic studies suggested that both common and rare genetic variants play a role in the etiology. In this study, we aimed to analyze rare variants detected by next generation sequencing (NGS) in an autism cohort from Hungary.
Methods
We investigated t...
Number of variants in the investigated genes. Table summarizes the number of different variant types, detected in the investigated genes. Table only includes rare variants, as defined in the Section “Materials and Methods.” n/a, not applicable. Next generation sequencing is not suitable for detection of repeat expansion events. Repeat expansions we...
Background:
The etiology of autism spectrum disorders (ASD) is very heterogeneous. Mitochondrial dysfunction has been described in ASD; however, primary mitochondrial disease has been genetically proven in a small subset of patients. The main goal of the present study was to investigate correlations between mitochondrial DNA (mtDNA) changes and al...
Objective:
Next-generation sequencing is increasingly utilized worldwide as a research and diagnostic tool and is anticipated to be implemented into everyday clinical practice. Since Central-Eastern European attitude toward genetic testing, especially broad genetic testing, is not well known, we performed a survey on this issue among Hungarian par...
Parkinson’s disease is a worldwide, frequent, neurodegenerative disorder with increasing incidence. Speech disturbance appears during the progression of the disease. The Unified Parkinson’s Disease Rating Scale (UPDRS) is a gold-standard tool for diagnosis and follow-up of the disease. We aim at estimating the UPDRS score based on biomedical voice...
We present the case of a 66-year-old man who has been treated for essential tremor since the age of 58. He developed mild cerebellar gait ataxia seven years after tremor onset. Moderate, global brain atrophy was identified on MRI scans. At the age of 68, only temporary tremor relief could be achieved by bilateral deep brain stimulation of the ventr...
