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View article: Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3 Open
The READISCA study aims to prepare for clinical trials in SCA1 and SCA3. Hence, we searched for predictive variables of ataxia onset (phenoconversion) and progression. Individuals with SCA1 or SCA3 and controls were enrolled from 2018-2021…
View article: Decoding Thalamic Glial Interplay in Multiple Sclerosis Through Proton Magnetic Resonance Spectroscopy and Positron Emission Tomography
Decoding Thalamic Glial Interplay in Multiple Sclerosis Through Proton Magnetic Resonance Spectroscopy and Positron Emission Tomography Open
The study assesses the relationship between thalamic proton-MR spectroscopy (1H-MRS) metabolites and thalamic 11C-ER176 translocator-protein positron emission tomography (TSPO-PET) standardized uptake value ratios (SUVR) to advance our und…
View article: Examination of oxidative stress and glutamate as potential mechanisms of N-acetylcysteine in the treatment of non-suicidal self-injury in young people assigned female at birth: randomised trial
Examination of oxidative stress and glutamate as potential mechanisms of N-acetylcysteine in the treatment of non-suicidal self-injury in young people assigned female at birth: randomised trial Open
Background Non-suicidal self-injury (NSSI) often emerges during adolescence and young adulthood. A prior open-label pilot study suggested that N-acetylcysteine (NAC) may reduce NSSI frequency in young individuals. Aims This study investiga…
View article: Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias
Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias Open
We observed early cognitive impairment in PolyQ SCA carriers, correlating with clinical measures, NfL levels, and cerebellum volume. Improvement over 3 years likely reflects a practice effect, potentially limiting the scale's longitudinal …
View article: Dural ectopic lymphatic structures accumulate during aging and exhibit dysregulation in neurodegenerative diseases
Dural ectopic lymphatic structures accumulate during aging and exhibit dysregulation in neurodegenerative diseases Open
The meninges serve as a critical interface between the peripheral immune system and the central nervous system, playing a crucial role in maintaining parenchymal homeostasis. Neurodegenerative disorders, such as amyloidosis and tauopathies…
View article: A Core Pattern of Cerebellar and Brainstem Degeneration and Reduced Cerebrocerebellar Structural Covariance in Spinocerebellar Ataxia Type 3 (SCA3): MRI Volumetrics from ENIGMA-Ataxia
A Core Pattern of Cerebellar and Brainstem Degeneration and Reduced Cerebrocerebellar Structural Covariance in Spinocerebellar Ataxia Type 3 (SCA3): MRI Volumetrics from ENIGMA-Ataxia Open
Objective Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease. Here, we profile the spatial spread of atrophy across the whole brain, determine whether brain degeneration preferentially maps onto specific fu…
View article: Neurochemical Profiles of Prefrontal Cortex and Hypothalamus at 3 and 7 T During Controlled Euglycemia: Evaluation in a Cohort With Type 1 Diabetes
Neurochemical Profiles of Prefrontal Cortex and Hypothalamus at 3 and 7 T During Controlled Euglycemia: Evaluation in a Cohort With Type 1 Diabetes Open
With the increasing adoption of ultrahigh‐field MRI scanners, there is a growing interest in migrating MRS studies from 3 to 7 T. Prior field comparisons of MRS in healthy volunteers demonstrated better reliability of quantification at 7 T…
View article: Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia
Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia Open
Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anato…
View article: Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort Open
Background Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominantly inherited adult-onset disease. We aimed to describe longitudinal changes in clinical and biological findings and to identify predictors for clinical progression. Me…
View article: Increase in white matter hyperintensities in long‐COVID depends on age and hospitalization during acute SARS‐CoV‐2
Increase in white matter hyperintensities in long‐COVID depends on age and hospitalization during acute SARS‐CoV‐2 Open
Background Approximately 10% of patients with acute SARS‐CoV‐2 infection present with persistent symptoms recognized as the long‐COVID. Neurological and cognitive symptoms are prevalent in long‐COVID, requiring a deeper understanding of th…
View article: Increase in white matter hyperintensities in long‐COVID depends on age and hospitalization during acute SARS‐CoV‐2
Increase in white matter hyperintensities in long‐COVID depends on age and hospitalization during acute SARS‐CoV‐2 Open
Background Approximately 10% of patients with acute SARS‐CoV‐2 infection present with persistent symptoms recognized as the long‐COVID. Neurological and cognitive symptoms are prevalent in long‐COVID, requiring a deeper understanding of th…
View article: Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia Open
Background Clinical trials for upcoming disease‐modifying therapies of spinocerebellar ataxias (SCA), a group of rare movement disorders, lack endpoints sensitive to early disease progression, when therapeutics will be most effective. In a…
View article: Data-driven brain atrophy staging in spinocerebellar ataxia type 3
Data-driven brain atrophy staging in spinocerebellar ataxia type 3 Open
Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. First targeted gene therapy trials have started, offering the intriguing scenario of preventive treatment. SCA3 is associated with progressive reg…
View article: Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study Open
Background Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morph…
View article: Cerebellar volumetry in ataxias: Relation to ataxia severity and duration
Cerebellar volumetry in ataxias: Relation to ataxia severity and duration Open
Background : Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cere…
View article: Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3 Open
Spinocerebellar ataxia type 3/Machado–Joseph disease is the most common autosomal dominant ataxia. In view of the development of targeted therapies, knowledge of early biomarker changes is needed. We analyzed cross‐sectional data of 292 sp…
View article: Regional sex differences in neurochemical profiles of healthy mice measured by magnetic resonance spectroscopy at 9.4 tesla
Regional sex differences in neurochemical profiles of healthy mice measured by magnetic resonance spectroscopy at 9.4 tesla Open
Objective To determine sex differences in the neurochemical concentrations measured by in vivo proton magnetic resonance spectroscopy ( 1 H MRS) of healthy mice on a genetic background commonly used for neurodegenerative disease models. Me…
View article: Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3
Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3 Open
Increased neurofilament light (NfL; NEFL) protein in biofluids is reflective of neurodegeneration and has gained interest as a biomarker across neurodegenerative diseases. In spinocerebellar ataxia type 3 (SCA3), the most common dominantly…
View article: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers Open
With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The…
View article: <scp>Antisense Oligonucleotide</scp> Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice
<span>Antisense Oligonucleotide</span> Silencing Reverses Abnormal Neurochemistry in Spinocerebellar Ataxia 3 Mice Open
Objective Spinocerebellar ataxia type 3 (SCA3) is the most common dominantly inherited ataxia, and biomarkers are needed to noninvasively monitor disease progression and treatment response. Anti‐ ATXN3 antisense oligonucleotide (ASO) treat…
View article: Vespa: Integrated applications for <scp>RF</scp> pulse design, spectral simulation and <scp>MRS</scp> data analysis
Vespa: Integrated applications for <span>RF</span> pulse design, spectral simulation and <span>MRS</span> data analysis Open
Purpose The Vespa package (Versatile Simulation, Pulses, and Analysis) is described and demonstrated. It provides workflows for developing and optimizing linear combination modeling (LCM) fitting for 1 H MRS data using intuitive graphical …
View article: Stage-dependent biomarker changes in spinocerebellar ataxia type 3
Stage-dependent biomarker changes in spinocerebellar ataxia type 3 Open
Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3) is the most common autosomal dominant ataxia. In view of the development of targeted therapies for SCA3, precise knowledge of stage-dependent fluid and MRI biomarker changes is ne…
View article: Auto-Gait
Auto-Gait Open
Many patients with neurological disorders, such as Ataxia, do not have easy access to neurologists, -especially those living in remote localities and developing/underdeveloped countries. Ataxia is a degenerative disease of the nervous syst…