Roberta Marozzo
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MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy Open
Becker muscular dystrophy (BMD) is an X-linked recessive disorder caused by dystrophin gene mutations. The phenotype and evolution of this muscle disorder are extremely clinical variable. In the last years, circulating biomarkers have acqu…
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients Open
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare fatty acids oxidation disorder which is often associated with deficiency of electron transfer flavoprotein dehydrogenase (ETFDH). In this study we reported clinical features and e…
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy Open
Background Neutral lipid storage disease with myopathy (NLSDM) is a rare lipid metabolism disorder. In this study, we evaluated some circulating miRNAs levels in serum samples and the MRI of three affected siblings. Methods Three members o…
Current and emerging therapies in Becker muscular dystrophy (BMD). Open
Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the presen…
A new family with transportinopathy: increased clinical heterogeneity Open
We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been…
View article: Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review Open
Aim To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients. Material and method A literature review was performed using the follow…