Fortunato Francesco Ranieri

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita / S. Lucchiari, F. Fortunato, G. Meola, A. Mignarri, S. Pagliarani, S. Corti, G.P. Comi, D. Ronchi. - In: FRONTIERS IN GENETICS. - ISSN 1664-8021. - 15:(2024 Dec 06), pp. 1486977.1-1486977.8. [10.3389/fgene.2024.1486977]

Soft cerebellar signs unveil RARS2‐related epilepsy / V. Yahya, R. Dilena, R. DEL BO, M. Magni, F. Biella, S. Salani, F. Fortunato, E. Scola, A. Di Fonzo, E. Monfrini. - In: EPILEPTIC DISORDERS. - ISSN 1294-9361. - 26:4(2024 Aug), pp. 540-543. [10.1002/epd2.20237]

Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy / D. Piga, S. Zanotti, M. Ripolone, L. Napoli, P. Ciscato, S. Gibertini, L. Maggi, F. Fortunato, A. Rigamonti, D. Ronchi, G.P. Comi, S. Corti, M. Sciacco. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 25:12(2024), pp. 6547.1-6547.9. [10.3390/ijms25126547]

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy / D. Ronchi, M. Garbellini, F. Magri, F. Menni, M. Meneri, M.F. Bedeschi, R. Dilena, V. Cecchetti, I. Picciolli, F. Furlan, V. Polimeni, S. Salani, L. Pezzoli, F. Fortunato, M. Bellini, D. Piga, M. Ripolone, S. Zanotti, L. Napoli, P. Ciscato, M. Sciacco, G. Mangili, F. Mosca, S. Corti, M. Iascone, G.P. Comi. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1476-5438. - 31:12(2023 Dec), pp. 1414-1420. [10.1038/s41431-023-01433-6]

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes / S. Zanotti, F. Magri, S. Salani, L. Napoli, M. Ripolone, D. Ronchi, F. Fortunato, P. Ciscato, D. Velardo, M.G. D'Angelo, F. Gualandi, V. Nigro, M. Sciacco, S. Corti, G.P. Comi, D. Piga. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 24:6(2023 Mar 14), pp. 5551.1-5551.14. [10.3390/ijms24065551]