Elena Procopio
Florence, Italy
Last Updated: 09/26/2026
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Found 71 publications
Case Report of Recovery from Cortical Blindness in a Child with POLG1-Related Disease: A Three-Month Follow-Up.
Journal: Developmental neuropsychology
Published: August 04, 2026
Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).
Journal: Stem cell research
Published: May 18, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden.
Journal: Molecular genetics and metabolism
Published: February 20, 2026
Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry.
Journal: Annals of clinical and translational neurology
Published: December 29, 2025
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.
Journal: Neurology. Genetics
Published: October 31, 2025
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: August 27, 2025
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.
Journal: International journal of molecular sciences
Published: August 12, 2025
Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.
Journal: Stem cell research
Published: April 18, 2025
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.
Journal: Frontiers in endocrinology
Published: March 15, 2025
Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.
Journal: International journal of neonatal screening
Published: March 11, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
Journal: European journal of neurology
Published: December 04, 2024
Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: November 18, 2024
Last Updated: 09/26/2026