"Settore BIOS-09/A - Biochimica clinica e biologia molecolare clinica" · 2 results · Global ETD Search

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Showing 1 to 2 of 2 for “"Settore BIOS-09/A - Biochimica clinica e biologia molecolare clinica"”.

MOLECULAR PATHWAYS ANALYSIS THROUGH MULTI-OMICS APPROACHES TO STUDY THE BIOLOGICAL BASIS OF ANOREXIA NERVOSA

DONATO, KEVINUniversità degli Studi di Milano2025

… studies, genetic testing in AN is becoming a clinical reality, with identified candidate genes such as NNAT, EPHX2, LEP, and MC4R offering the potential to tailor treatments, predict disease progression, and assess recurrence risk within families. Moreover, genetic testing is crucial for …

milano Repository record for MOLECULAR PATHWAYS ANALYSIS THROUGH MULTI-OMICS APPROACHES TO STUDY THE BIOLOGICAL BASIS OF ANOREXIA NERVOSA (opens in a new tab)
SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS

HASSAN, AMBERUniversità degli Studi di Milano2025

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 …

milano Repository record for SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS (opens in a new tab)