COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients
2026 S. Zanotti, F. Magri, S. Salani, L. Napoli, M. Ripolone, S. Pagliarani, D. Ronchi, F. Fortunato, P. Ciscato, D. Cassandrini, F. Fattori, M.G. D'Angelo, E. Albamonte, V. Nigro, M. Sciacco, S. Corti, G.P. Comi, D. Piga
AAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model
2026 E. Pagliari, A. Anastasia, F. Bellandi, M. Garbellini, J. Ongaro, M. Taiana, G.P. Comi, L. Ottoboni, J.A. Sierra-Delgado, S. Likhite, K.C. Meyer, M. Nizzardo, S.P. Corti
High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis
2026 D. Gagliardi, C. Villella, M. Zanovello, V. Iacobelli, S. Corti, G.P. Comi, P. Fratta, H. Houlden, A. Tucci, D. Ronchi
Investigating the role of serum NfL, FGF21, NCAM1 and GDF15 as disease biomarkers for Charcot-Marie-Tooth type 2A
2026 E. Abati, D. Saccomanno, C. Alberti, A. Anastasia, D. Gagliardi, E. Ferri, B. Arosio, G. D Angelo, R. Cima, M.T. Bassi, S. Oldoni, G.P. Comi, P. Rizzo, S.P. Corti
High-plex spatial protein profiling of skeletal muscle biopsies in inflammatory myopathies using the MACSima™ imaging platform: A pilot study
2026 M. Sciacco, D. Velardo, L. Bertolasi, P. Ciscato, G. Castellano, D. Mattinzoli, M. Ikehata, S. Corti, G.P. Comi, S. Zanotti
Combined omalizumab and desensitization to control IgE-mediated hypersensitivity in enzyme replacement therapy for late-onset Pompe disease
2026 A. Lerario, E. Abati, M. Sciacco, G.P. Comi, V. Desantis, S. D'Amore, A.G. Solimando, R. Ria, S. Corti, F. Spataro
MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
2026 D. Velardo, C. Alberti, D. Gagliardi, R. Del Bo, P. Ciscato, L. Napoli, S. Zanotti, M. Ripolone, M.G. Croce, G. Cosentino, G. Tumminello, M. Locatelli, G.P. Comi, S. Corti, S. Ravaglia, D. Ronchi
A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy
2026 S. Zanotti, D. Ronchi, L. Napoli, M. Ripolone, S. Pagliarani, P. Ciscato, L. Bertolasi, R. Del Bo, F. Magri, D. Velardo, G.P. Comi, S. Corti, M. Sciacco
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies
2026 L. Ottoboni, C. Panicucci, G. Magni, D. Gagliardi, M. Ripolone, L. Napoli, M. Moggio, G.P. Comi, C. Bruno, S.P. Corti
Headache in mitochondrial diseases: From migraine to stroke‐like episodes
2026 M. Azzimonti, S. Padelli, D. Ronchi, S. Sacco, G.P. Comi, S. Corti
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study
2026 P. Lopriore, Z. Ünlütürk, T. Klopstock, A. Karaa, C. Rouzier, C. Domínguez-González, C. Lamperti, M. Mancuso, G. Cecchi, V. Montano, G. Siciliano, V. Nicoletta, M. Maioli, G. Primiano, S. Servidei, C. La Morgia, V. Carelli, M.L. Valentino, L. Caporali, I.G. Arena, O. Musumeci, D. Lopergolo, A. Malandrini, G.N. Gallus, M. Filosto, L. Bello, E. Pegoraro, G.P. Comi, F. Magri, D. Ronchi, A. Di Fonzo, M. Percetti, M. Azzimonti, B. Büchner, H. Prokisch, L. Bermejo-Guerrero, V. Procaccio, P. Gaignard, A. Echaniz-Laguna, M. Schiff, A. Rötig, A. Toutain, V. Paquis-Flucklinger, G. Morel, S. Robin, A. Nadaj-Pakleza, J. Chanson, A. Chaussenot, S. Ait-El-Mkadem Saadi, A. Trimouille, C. Tranchant, E. Salort-Campana, E. Bieth, S. Sacconi, F. Duval, J.L. Restrepo Vera, M.J. Molnar, J. Vissing, R. Haas, A. Larson, G.M. Enns, S. Parikh, A. Goldstein, M. Hirano
Beyond motor neurons: peripheral TDP-43 pathology in skeletal muscle and intramuscular nerves in amyotrophic lateral sclerosis
2026 S. Corti, C. Alberti, L. Ottoboni, G. Magni, D. Gagliardi, F. Marcotti, S. Zanotti, M. Moggio, G.P. Comi
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia
2026 A. Frosio, S. Calamaio, S. Pagliarani, F. Cirillo, D. Melgari, R. Prevostini, F.L. Presti, S. Lucchiari, F. Magri, S. Corti, G.P. Comi, L. Anastasia, C. Pappone, G. Meola, I. Rivolta
Late-onset severe axonal polyneuropathy in mut0 methylmalonic acidemia after liver-kidney transplantation: a genotype-informed case report
2026 M. Griffo, F. Magri, F. Furlan, E. Bernardi, F. Menni, F. Tagliaferri, S. Testa, D. Ronchi, S. Petrillo, F. Piemonte, D. Gagliardi, M. Parisi, S. Padelli, D. Velardo, N. Molitierno, S. Corti, G.P. Comi
FcRn antagonist and C5 complement inhibitor as early rescue strategies in severe Myasthenia Gravis: a two-case report
2026 M. Parisi, N. Molitierno, C. Alberti, D. Gagliardi, D. Velardo, G.P. Comi, S.P. Corti
Glycogenin-1 deficiency: a case report and review of the literature
2026 N. Molitierno, D. Velardo, G. Salvucci, E. Abati, G. Tumminello, M. Ripolone, S. Zanotti, L. Napoli, P. Ciscato, M. Sciacco, G.P. Comi, S. Corti, D. Ronchi
Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice
2026 M. Pane, A. Capasso, C. Arpaia, A. D'Amico, E. Albamonte, F. Trucco, M. Sframeli, R. Masson, F. Magri, L. Bello, R. Venditti, C. Dosi, M. Catteruccia, M. Tosi, C. Bruno, S. Messina, G. Comi, E. Pegoraro, V.A. Sansone, E. Mercuri
Modifying disease registries to address the evolving field in rare diseases: the iSMAc/ITASMAc experience in spinal muscular atrophy
2026 G. Coratti, C. Bravetti, G. Cicala, C. Cutrì, V.A. Sansone, A. D'Amico, C. Bruno, S. Messina, F. Ricci, T. Mongini, M. Coccia, E. Pegoraro, R. Masson, A. Berardinelli, C. Agosto, A. Pini, A. Varone, M. Turri, M. Filosto, G. Comi, L. Maggi, I. Bruno, M.G. D'Angelo, A. Trabacca, V. Vacchiano, M. Sacchini, D. Gagliardi, E. D'Errico, L. Ruggiero, L. Verriello, F. Brighina, M. Garibaldi, R. Zuccarino, V. Nigro, R. Battini, G. Ricci, S. Siliquini, A.A. Zambon, B. Polikar, M.C. Pera, M. Pane, E. Mercuri
RNA biomarkers in spinal muscular atrophy: enhancing pathogenesis understanding and guiding precision medicine
2026 C. Alberti, A. Berardinelli, G.P. Comi, L. Ottoboni, S. Corti
Ataxia with vitamin E deficiency syndrome and a novel TTPA variant: a paired case report
2026 G. Baso, F. Magri, M. Sciacco, S.P. Corti, G.P. Comi, D. Ronchi, D. Velardo