Lucchiari Sabrina

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction / M. Sciacco, S. Lucchiari, L. Bertolasi, G.P. Comi, S. Corti, D. Ronchi. - In: FRONTIERS IN GENETICS. - ISSN 1664-8021. - 16:(2025), pp. 1574381.1-1574381.8. [10.3389/fgene.2025.1574381]

Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy / M. Rimoldi, S. Lucchiari, S. Pagliarani, G. Meola, G.P. Comi, E. Abati. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-3478. - 46:4(2025), pp. 1599-1616. [10.1007/s10072-024-07826-9]

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]

Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis / S.K. Aburahma, L.A. Rousan, M. Shboul, F. Biella, S. Lucchiari, G.P. Comi, G. Meola, S. Pagliarani. - In: FRONTIERS IN NEUROLOGY. - ISSN 1664-2295. - 15:(2024), pp. 1359479.1-1359479.8. [10.3389/fneur.2024.1359479]

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis / S. Pagliarani, G. Meola, M. Filareti, G.P. Comi, S. Lucchiari. - In: FRONTIERS IN NEUROLOGY. - ISSN 1664-2295. - 13:(2022), pp. 845383.1-845383.6. [10.3389/fneur.2022.845383]