Simone Sampaolo
0000-0002-1383-6638
6 papers found
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Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients
A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease
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