Eleonora Mura
Varese, Italy
Last Updated: 09/26/2026
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Found 9 publications
Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: March 16, 2026
Rare forms of hypomyelination and delayed myelination.
Journal: Handbook of clinical neurology
Published: September 25, 2024
Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Journal: Molecular genetics and metabolism
Published: November 21, 2022
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Journal: Molecular genetics and metabolism
Published: September 20, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Journal: Molecular genetics and metabolism
Published: June 13, 2021
Ruxolitinib in Aicardi-Goutières syndrome.
Journal: Metabolic brain disease
Published: January 26, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
Journal: Journal of human genetics
Published: January 10, 2021
Impact of COVID-19 lockdown in children with neurological disorders in Italy.
Journal: Disability and health journal
Published: August 12, 2020
Comprehensive analysis of HPV infection, EGFR exon 20 mutations and LINE1 hypomethylation as risk factors for malignant transformation of sinonasal-inverted papilloma to squamous cell carcinoma.
Journal: International journal of cancer
Published: May 24, 2018
Showing 1-9 of 9
Last Updated: 09/26/2026