Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 8 of 8 for “"Settore MEDS-12/A - Neurologia"”.
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EXPLORING MITOCHONDRIAL AND REDOX VULNERABILITY IN FRIEDREICH'S ATAXIA USING GOLD NANOCLUSTERS IN HUMAN CELLULAR MODELS
Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder caused by transcriptional silencing of the FXN gene, leading to frataxin deficiency, impaired iron–sulfur cluster biogenesis, mitochondrial dysfunction, and chronic oxidative stress. Despite significant advances in …
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PATHOGENETIC DEFINITION OF THE MECHANISMS UNDERLYING THE NOVEL FAMILY OF PLIN4 GENE EXPANSION-RELATED MYOPATHY
… motivo ho iniziato a lavorare con cellule C2C12, una linea di mioblasti derivati da topo, capaci eventualmente di ricapitolare in maniera più accurata le caratteristiche muscolari. Due linee stabili in cellule C2C12 sono quindi state generate e la validazione di questi modelli è attualmente …
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ACUTE ISCHEMIC STROKE: CANCER-RELATED STROKE AND MULTIMODAL ANALYSIS OF THROMBI.
Background Acute ischemic stroke (AIS) usually results from atherosclerosis or cardiac sources, but less frequent mechanisms, such as cancer-related stroke, play a role in some cases. Studying these rarer causes of AIS is crucial for secondary prevention. Thrombi analysis provides a unique window …
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CARDIAC AUTONOMIC CONTROL DURING SLEEP IN PATIENTS WITH MULTIPLE SYSTEM ATROPHY: A PILOT STUDY ON THE IMPACT OF CPAP THERAPY
Objectives To characterize sleep-stage autonomic regulation in multiple system atrophy (MSA) using cardiorespiratory coupling (K2) and symbolic dynamics (0V%, 2UV%, 2LV%) derived from ECG tracings in video‐polysomnography (v‐PSG). The study aims to compare patients with and without sleep‐disordered …
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DTI-ALPS REFLECTS WHITE MATTER DIFFUSION ANISOTROPY AND MICROSTRUCTURAL HETEROGENEITY RATHER THAN GLYMPHATIC FLOW: INSIGHTS FROM MULTI-MODAL MRI
The glymphatic system plays a critical role in the clearance of metabolic waste and pathological proteins such as amyloid-β and tau from the brain, and its dysfunction has been increasingly implicated in the pathogenesis of neurodegenerative diseases, making its in vivo characterization a major …
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CARDIOVASCULAR AUTONOMIC IMPAIRMENT IN GBA PARKINSONIAN PATIENTS
… supine and standing positions. Additionally, 123I-MIBG myocardial single-photon emission CT was used to evaluate postganglionic sympathetic nerve terminals. Results: A total of 34 GBA carriers and 33 I-PD patients were included. GBA-PD patients exhibited greater severity of autonomic symptoms …
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MODELLING RIBOFLAVIN TRANSPORTER DEFICIENCY (RTD) USING IPSC-DERIVED MODELS TO TEST GENE THERAPY EFFICACY
Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters RFVT2 and RFVT3. In the present study we focused on RTD Type 2, which is due to variants in SLC52A2 gene. …
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SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS
ABSTRACT Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, driven by homozygous loss of the SMN1 gene and reduced SMN protein. Although disease-modifying therapies such as Nusinersen, Risdiplam, and Onasemnogene abeparvovec have markedly improved survival and motor …