Ivana Spiga
Milan, Italy
Last Updated: 09/26/2026
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Found 9 publications
Multifocal vitelliform lesions associated with mitochondrial retinopathy.
Journal: American journal of ophthalmology case reports
Published: March 27, 2024
Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Journal: Annals of clinical and translational neurology
Published: June 22, 2023
PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
Journal: Ophthalmology. Retina
Published: September 20, 2022
Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.
Journal: American journal of ophthalmology case reports
Published: February 08, 2022
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Journal: Lancet (London, England)
Published: March 24, 2021
Metachromatic leukodystrophy: A single-center longitudinal study of 45 patients.
Journal: Journal of inherited metabolic disease
Published: September 23, 2020
Missense changes in the catalytic domain of coagulation factor X account for minimal function preventing a perinatal lethal condition.
Journal: Haemophilia : the official journal of the World Federation of Hemophilia
Published: September 28, 2018
Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.
Journal: EJIFCC
Published: May 17, 2018
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
Journal: Human mutation
Published: May 22, 2015
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Last Updated: 09/26/2026