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 4 of 4 for “"Settore MEDS-01/A - Genetica medica"”.
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ADVANCED AAV-MEDIATED LIVER-DIRECTED GENE THERAPIES FOR HAEMOPHILIA A AND MUCOPOLYSACCHARIDOSIS TYPE VI
Liver-directed gene therapy using adeno-associated viral (AAV) vectors holds significant promise for providing long-term transgene expression following a single systhemic administration. However, both the limited cargo capacity (~4.7 kb) and the non-integrative nature of AAV vectors prevent their …
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PHARMACOGENOMICS OF OPIOID RESPONSE IN EUROPEAN ADVANCED CANCER PATIENTS
Background: Strong opioids, which are drugs in the third step of the World Health Organization’s analgesic ladder, are the standard of care for treating pain in advanced cancer patients. Unfortunately, a significant minority of them do not benefit from analgesic therapy, or experience several side …
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NOVEL INSIGHTS ON ALLAN-HERNDON-DUDLEY SYNDROME: TRANSCRIPTIONAL PROFILING AND FUNCTIONAL CHARACTERIZATION OF THREE GENETIC VARIANTS IN SLC16A2 GENE
… in AHDS affected pediatric patients, on the pathogenetically mechanisms of AHDS. Particularly, from skin biopsies, we isolated primary fibroblasts from 3 AHDS patients and 2 healthy controls matched by sex and age to study the pathological readouts of the disease and identify novel related …
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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 …