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 20 of 33 for “"Settore MED/26 - Neurologia"”.
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AGE-RELATED GUT DYSBIOSIS ACCELERATES THYMIC INVOLUTION AND ALTERS PERIPHERAL T CELL REPERTOIRE IN DUCHENNE MUSCULAR DYSTROPHY
Emerging researches highlight a significant interplay between the immune system and skeletal muscle, particularly in the context of inflammatory muscle disorders and dystrophic conditions like Duchenne Muscular Dystrophy (DMD), as well as during the natural process of muscle regeneration. …
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MODELLING GBA1-RELATED PARKINSON¿S DISEASE PATHOLOGY IN PATIENT-DERIVED MIDBRAIN ORGANOIDS
Aggregation of α-synuclein protein in “Lewy bodies” and “Lewy neurites” and dopaminergic neuronal loss in the nigrostriatal system are the key neuropathological hallmarks of Parkinson’s disease. Mutations in GBA1, encoding the glucosylceramide-hydrolyzing enzyme glucocerebrosidase, cause Gaucher’s …
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The diagnosis of dystonia, an issue yet to be solved
… of dystonia; ii) the existence of a bunch of medical conditions (i.e., pseudodystonia) mimicking the abnormal postures/movements induced by dystonia. This work is organized in two different part (Study 1 and Study 2) and the overall aim of the work is to help clinicians to better diagnosis …
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Bridging cognitive gaps: development of novel diagnostic criteria for MCI in Multiple Sclerosis
… administered. Statistical analyses were performed to validate the MS-MCI criteria and to identify cognitive patterns and significant predictors of cognitive impairment. The findings demonstrated the utility and sensitivity of the newly developed MS-MCI criteria in capturing the nuanced spectrum …
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MCI IN RBD as a Distinct Clinical Entity: Comparative Evaluation of Diagnostic Frameworks and the cognitive domain as predictive factors of phenotypic conversion
Rapid Eye Movement Sleep Behavior Disorder (RBD) is a parasomnia characterized by loss of muscle atonia during REM sleep and the occurrence of dream-enacting behaviors, often associated with vivid and sometimes violent dreams. Increasing evidence supports that RBD represents an early clinical …
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IMPATTO DELLA DEPRESSIONE SUL RISCHIO DI PROGRESSIONE DEL MILD COGNITIVE IMPAIRMENT A MALATTIA DI ALZHEIMER
The depression symptoms in the elderly may accompany mild cognitive impairment. The aim of this study was to evaluate the role of depression on the risk of evolving to Alzheimer disease (AD) among mild cognitive impairment (MCI) subjects. We present the results of a clinical study of 169 MCI. …
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SPINAL MUSCULAR ATROPHY ORGANOIDS REVEAL DEVELOPMENTAL DEFECTS RESCUED BY ANTISENSE OLIGONUCLEOTIDES TREATMENT
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in the SMN1 gene. Recent therapies have significantly modified SMA natural course, but treatment efficacy remains variable and the reasons beyond this variability are still largely unexplored. Identifying pre-symptomatic …
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IN VIVO AND IN VITRO EVALUATION OF THE COMBINATION OF RNA INTERFERING AND GENE THERAPY FOR TREATING MITOFUSIN2-RELATED DISEASES
Background: Mitofusin-2 (MFN2) is an outer mitochondrial membrane protein essential for mitochondrial networking in most cells. Autosomal dominant mutations in the MFN2 gene cause Charcot-Marie-Tooth type 2A disease (CMT2A), a severe and disabling sensory-motor neuropathy. Here, we propose a novel …
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