Fernanda Fortunato

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Publications (14)

• Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
  Biomolecules 2025 DOI: 10.3390/biom15101426
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• MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
  Biomolecules 2025 DOI: 10.3390/biom15050687
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• Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
  American Journal of Medical Genetics, Part A 2022 DOI: 10.1002/ajmg.a.62739
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• Clinical application of molecular biomarkers in Duchenne muscular dystrophy: challenges and perspectives
  Expert Opinion on Orphan Drugs 2021 DOI: 10.1080/21678707.2021.1903872
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• Ethnicity-related DMD genotype landscapes in European and non-European countries
  Neurology: Genetics 2021 DOI: 10.1212/NXG.0000000000000536
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• Innovative therapeutic approaches for duchenne muscular dystrophy
  Journal of Clinical Medicine 2021 DOI: 10.3390/jcm10040820
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• The DMD gene and therapeutic approaches to restore dystrophin
  Neuromuscular Disorders 2021 DOI: 10.1016/j.nmd.2021.08.004
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• The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
  Frontiers in Genetics 2020 DOI: 10.3389/fgene.2020.00131
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• Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
  Frontiers in Genetics 2020 DOI: 10.3389/fgene.2020.00605
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• A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture
  Clinical Neurology and Neurosurgery 2019 DOI: 10.1016/j.clineuro.2019.105536
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