Elena Procopio
8PUBLICATIONS
55CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|Oct 16, 2025
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.Donatella Gilio, Caterina Pelosini, Silvia Magno
|Nov 27, 2024
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.Giancarlo Castaman, Silvia Linari, Antonio Barbato
|Aug 30, 2024
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature.Alessandro Barbato, Giulia Gori, Michele Sacchini
|Jul 25, 2023
Communicating a Positive Result at Newborn Screening and Parental Distress.Elisa Lastrucci, Marta Daniotti, Elena Procopio
|Mar 20, 2023
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.Claudia Nesti, Chiara Ticci, Anna Rubegni
|Feb 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.Annalisa Vetro, Tiziana Pisano, Silvia Chiaro
Pageof 2
