COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
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
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
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
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
2025 L. Costa-Comellas, M. Monforte, A. Sanchez-Montañez, P. Romero-Duque, E. Pegoraro, J. Díaz-Manera, D. Vlodavets, L. Maggi, M. Moscatelli, A. D'Amico, M. Olivé, J. Alonso-Pérez, G. Comi, J.M. Escudero-Fernández, G.S. Urcuyo, A. Pichiecchio, A. Berardinelli, K.G. Claeys, C. Bruno, C. Panicucci, S. Bortolani, E. Torchia, E. Ricci, S. Monges, J.A. Bevilacqua, J. Diaz-Jara, M.C. Walter, S. Thiele, N. Løkken, J. Vissing, S. Quijano-Roy, R.Y. Carlier, N.C. Voermans, C. Marini-Bettolo, M. Guglieri, V. Straub, L. Leonardis, F. Munell, D. Gómez-Andrés, G. Tasca
Targeted antisense oligonucleotide treatment rescues developmental alterations in spinal muscular atrophy organoids
2025 I. Faravelli, P. Rinchetti, M. Tambalo, I. Simutin, L. Mapelli, S. Mancinelli, M. Miotto, M. Rizzuti, A. D'Angelo, C. Cordiglieri, G. Forotti, C. Peano, P. Kunderfranco, L. Calandriello, G.P. Comi, E. Paraboschi, E. Pali, F. Beatrice, E. D'Angelo, S. Przedborski, M. Nizzardo, S. Lodato, S. Corti
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
A novel DNM2 variant associated with centronuclear myopathy: a case report
2025 M. Rimoldi, D. Velardo, S. Zanotti, M. Ripolone, R. Del Bo, P. Ciscato, L. Napoli, S. Corti, G.P. Comi, D. Ronchi
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T
2025 A.R. Foley, V. Bolduc, F. Guirguis, S. Donkervoort, Y. Hu, R. Orbach, R.M. Mccarty, A. Sarathy, G. Norato, B.B. Cummings, M. Lek, A. Sarkozy, R.J. Butterfield, J. Kirschner, A. Nascimento, D. Natera-de Benito, S. Quijano-Roy, T. Stojkovic, L. Merlini, G. Comi, M. Ryan, D. Mcdonald, P. Munot, G. Yoon, E. Leung, E. Finanger, M.E. Leach, J. Collins, C. Tian, P. Mohassel, S.B. Neuhaus, D. Saade, B.T. Cocanougher, M. Chu, M. Scavina, C. Grosmann, R. Richardson, B.D. Kossak, S.M. Gospe, V. Bhise, G. Taurina, B. Lace, M. Troncoso, M. Shohat, A. Shalata, S.H.S. Chan, M. Jokela, J. Palmio, G. Haliloğlu, C. Jou, C. Gartioux, H. Solomon-Degefa, C.D. Freiburg, A. Schiavinato, H. Zhou, S. Aguti, Y. Nevo, I. Nishino, C. Jimenez-Mallebrera, S.R. Lamandé, V. Allamand, F. Gualandi, A. Ferlini, D.G. Macarthur, S.D. Wilton, R. Wagener, E. Bertini, F. Muntoni, C.G. Bönnemann
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
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