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Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V. Traversa A, et al. Among authors: napoli g. Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519823 Free PMC article.
The Role of Magnetic Resonance Imaging in Cardiomyopathies in the Light of New Guidelines: A Focus on Tissue Mapping.
Forleo C, Carella MC, Basile P, Mandunzio D, Greco G, Napoli G, Carulli E, Dicorato MM, Dentamaro I, Santobuono VE, Memeo R, Latorre MD, Baggiano A, Mushtaq S, Ciccone MM, Pontone G, Guaricci AI. Forleo C, et al. Among authors: napoli g. J Clin Med. 2024 Apr 29;13(9):2621. doi: 10.3390/jcm13092621. J Clin Med. 2024. PMID: 38731153 Free PMC article. Review.
174 results