Noémi Szépfalusi

ORCID: 0000-0003-0047-8496
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About
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Research Areas
  • Transcranial Magnetic Stimulation Studies
  • Genetic Neurodegenerative Diseases
  • Mitochondrial Function and Pathology
  • Genetics and Neurodevelopmental Disorders
  • Stroke Rehabilitation and Recovery
  • Genetic factors in colorectal cancer
  • Neural and Behavioral Psychology Studies
  • Bipolar Disorder and Treatment
  • Vestibular and auditory disorders
  • Neurological Disorders and Treatments
  • Acute Ischemic Stroke Management
  • Alzheimer's disease research and treatments
  • Tryptophan and brain disorders
  • Thyroid and Parathyroid Surgery
  • GDF15 and Related Biomarkers
  • Cardiac tumors and thrombi
  • RNA regulation and disease
  • Parathyroid Disorders and Treatments
  • Genomics and Rare Diseases
  • Functional Brain Connectivity Studies
  • Congenital heart defects research
  • Vascular Anomalies and Treatments
  • EEG and Brain-Computer Interfaces
  • Retinal Development and Disorders
  • Venous Thromboembolism Diagnosis and Management

University of Szeged
2017-2025

Neurology, Inc
2017

Abstract Background Recent research has highlighted the role of fronto-parietal brain networks and cognitive control in mood disorders. Transcranial direct current stimulation (tDCS) computer-based training are used post-stroke rehabilitation. This study examined combined effects ofof inhibitory (ICCT) anodal tDCS on depression anxiety. Methods Thirty-five participants were randomly assigned to one three groups: active treatment (A), sham with ICCT (T), or (AT), for a duration ten days....

10.1186/s12883-025-04042-6 article EN cc-by BMC Neurology 2025-01-27

The prevalence of xeroderma pigmentosum (XP) is quite low in Europe, which may result a delay determining the appropriate diagnosis. Furthermore, some subtypes XP, including XPA, manifest themselves with severe neurological symptoms addition to characteristic dermatological lesions. Accordingly, aim current study highlight predominant aspects as well mild-to-moderate signs Hungarian family 5 affected siblings. Caucasian male proband started develop at 13–14 years age predominantly...

10.1007/s10072-019-04044-6 article EN cc-by Neurological Sciences 2019-09-02

Spinocerebellar ataxia type 48 (SCA48) is an autosomal dominantly inherited disease characterized by gait and limb ataxia, cerebellar dysarthria, cognitive impairment, psychiatric abnormalities variable types of movement disorders. To date, more than 30 STUB1 gene (NM_005861.4) mutations have been described in the genetic background SCA48. The aim this short report was to demonstrate first Hungarian SCA48 patient caused a novel missense mutation (c.788G>C, p.Arg263Pro). characteristics...

10.18071/isz.76.0063 article EN Ideggyógyászati Szemle 2023-01-01

Abstract Background SYNE1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb cerebellar dysarthria. Reports have revealed that clinical phenotype more complex than first published cases with pure signs indicated. The aim this study was to characterize eye movement alterations in diagnosed Hungarian patients. Results Saccades antisaccades were examined tracker device 3 (one patient has two frameshift mutations [c.8515_8516insA,...

10.1186/s12868-021-00612-9 article EN cc-by BMC Neuroscience 2021-02-01

Zádori, Dénes MD, PhD; Füvesi, Judit PhD, MSc; Timár, Erzsébet MD; Horváth, Emese Bencsik, Renáta Szépfalusi, Noémi Must, Anita Vécsei, László DSc; Molnár, Mária Klivényi, Péter DSc Author Information

10.1097/wad.0000000000000206 article EN Alzheimer Disease & Associated Disorders 2017-08-08

[Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized malformations arteriovenous system in multiple organs. The clinical diagnosis based on Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first...

10.18071/isz.72.0065 article EN Ideggyógyászati Szemle 2019-01-01

Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized malformations arteriovenous system in multiple organs. The clinical diagnosis based on Curacao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first...

10.18071/10.18071/isz.72.0065 article EN Ideggyógyászati Szemle 2019-01-30

Abstract Background SYNE1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb cerebellar dysarthria. Previous reports revealed that clinical phenotype more complex than first published cases with pure signs. The aim this study was to characterize eye movement alterations diagnosed Hungarian patients. Results Saccades antisaccades were examined tracker device in 3 (one patient has two frameshift mutations [c.8515_8516insA,...

10.21203/rs.3.rs-79409/v1 preprint EN cc-by Research Square (Research Square) 2020-10-14
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