COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
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
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
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
Unveiling amyotrophic lateral sclerosis complexity: insights from proteomics, metabolomics and microbiomics
2025 S. Scarcella, L. Brambilla, L. Quetti, M. Rizzuti, V. Melzi, N. Galli, L. Sali, G. Costamagna, G.P. Comi, S. Corti, D. Gagliardi
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy
2025 L. Bello, P. Riguzzi, E. Albamonte, G. Astrea, R. Battini, A. Barp, A.L. Berardinelli, E.S. Bertini, N. Brolatti, C. Bruno, S. Corti, A. D'Amico, M.G. D'Angelo, G. Dallavalle, R. Liguori, L. Maggi, F. Magri, M. Mancuso, R. Masson, E. Mercuri, C. Minetti, S. Messina, T. Mongini, O. Musumeci, V. Nigro, M. Pane, C. Panicucci, M. Pedemonte, A. Pini, L. Politano, S. Previtali, F. Ricci, G. Ricci, L. Ruggiero, V. Sansone, G. Siciliano, A. Trabacca, F. Trucco, D. Velardo, E. Pegoraro, G.P. Comi
The Emotional Landscape of Multiple System Atrophy: A Preliminary Personality-Based Perspective
2025 E. Zirone, G. Franco, F. Arienti, R. Ferrucci, A. Di Maio, G. Comi, F. Cogiamanian, A. Di Fonzo, F. Mameli
Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy
2025 M. Rimoldi, S. Lucchiari, S. Pagliarani, G. Meola, G.P. Comi, E. Abati
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction
2025 M. Sciacco, S. Lucchiari, L. Bertolasi, G.P. Comi, S. Corti, D. Ronchi
Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study
2025 F. Piemonte, S. Petrillo, A. Capasso, G. Coratti, A. D'Amico, M. Catteruccia, M.C. Pera, C. Palermo, M. Pane, E. Abiusi, G. Cicala, M. Villa, C. Bravetti, C. Arpaia, A. Novelli, S. Falqui, S. Fiori, G. Napoli, S. Baroni, F.D. Tiziano, E. Bertini, G. Comi, S. Corti, E. Mercuri
Single Nucleotide SMN1 Variants in a Cohort of Individuals With Spinal Muscular Atrophy
2025 M. Rimoldi, F. Magri, M. Meneri, D. Gagliardi, V. Ada Sansone, E. Albamonte, L. Ottoboni, G.P. Comi, E. Mercuri, F.D. Tiziano, D. Ronchi, S. Corti
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
2025 M. Nicastro, A.M.C. Vermeer, P.G. Postema, R. Tadros, F.Z. Bowling, H.M. Aegisdottir, V. Tragante, L. Mach, A.V. Postma, E.M. Lodder, K. Van Duijvenboden, R. Zwart, L. Beekman, L. Wu, S.J. Jurgens, P.A. Van Der Zwaag, M. Alders, M. Allouba, Y. Aguib, J.L. Santome, D. De Una, L. Monserrat, A.M.A. Miranda, K. Kanemaru, J. Cranley, I.E. Van Zeggeren, E.M.A. Aronica, M. Ripolone, S. Zanotti, G. Sveinbjornsson, E.V. Ivarsdottir, H. Hólm, D.F. Guðbjartsson, Á.T. Skúladóttir, K. Stefánsson, L. Nadauld, K.U. Knowlton, S.R. Ostrowski, E. Sørensen, O.B. Vesterager Pedersen, J. Ghouse, S.A. Rand, H. Bundgaard, H. Ullum, C. Erikstrup, B. Aagaard, M.T. Bruun, M. Christiansen, H.K. Jensen, D.A. Carere, C.T. Cummings, K. Fishler, P.M. Tørring, K. Brusgaard, T.M. Juul, L. Saaby, B.G. Winkel, J. Mogensen, F. Fortunato, G.P. Comi, D. Ronchi, J.P. Van Tintelen, M. Noseda, M.V. Airola, I. Christiaans, A.A.M. Wilde, R. Wilders, S. Clur, A.O. Verkerk, C.R. Bezzina, N. Lahrouchi
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models
2025 M. Rizzuti, E. Pagliari, M. D'Agostino, L. Ottoboni, V. Parente, G.P. Comi, S. Corti, F. Rizzo, E. Abati