Fernanda Fortunato
Ferrara, Italy
Last Updated: 09/26/2026
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Found 24 publications
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.
Journal: Frontiers in public health
Published: March 03, 2026
What is at stake in genetic newborn screening for rare diseases? - An exploratory qualitative study of parents' and expectant parents' concerns in the Screen4Care project.
Journal: Public health genomics
Published: January 15, 2026
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Journal: Biomolecules
Published: July 14, 2025
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.
Journal: Biomolecules
Published: March 06, 2025
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.
Journal: Orphanet journal of rare diseases
Published: November 14, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Journal: Brain : a journal of neurology
Published: July 08, 2024
Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.
Journal: Orphanet journal of rare diseases
Published: July 02, 2024
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Journal: BMJ open
Published: April 20, 2024
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Journal: PloS one
Published: September 19, 2023
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis.
Journal: Frontiers in neurology
Published: September 04, 2023
Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.
Journal: Journal of neuromuscular diseases
Published: August 07, 2023
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies.
Journal: Scientific reports
Published: May 04, 2023
Last Updated: 09/26/2026