COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
Age-progressive stratification of Becker muscular dystrophy patients: a focus on muscle biopsy fibrosis, inflammation and capillary network
2025 S. Zanotti, P. Ciscato, L. Napoli, L. Bertolasi, S. Corti, G.P. Comi, M. Moggio, M. Sciacco, M. Ripolone
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
Targeting STMN2 for neuroprotection and neuromuscular recovery in Spinal Muscular Atrophy: evidence from in vitro and in vivo SMA models
2025 E. Pagliari, M. Taiana, P. Manzini, L. Sali, L. Quetti, L. Bertolasi, S. Oldoni, V. Melzi, G. Comi, S. Corti, M. Nizzardo, F. Rizzo
The role of C/EBP-homologous protein in idiopathic inflammatory myopathies
2025 M. Sciacco, P. Ciscato, L. Bertolasi, M. Guttuso, S. Corti, D. Mattinzoli, M. Ikeata, G. Castellano, G.P. Comi, S. Zanotti
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
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
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
Case Report: Acute onset hemiparesis in a young man: do not miss Crohn's disease
2025 V. Iacobelli, S. Tagliabue, B. Modello, D. Velardo, E. Abati, F. Triulzi, G.P. Comi, S. Corti, D. Gagliardi, M. Parisi
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
Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
2024 E. Abati, E. Mauri, M. Rimoldi, B. Madini, F. Patria, G.P. Comi, S. Corti
Shaping the Neurovascular Unit Exploiting Human Brain Organoids
2024 M. Rizzuti, V. Melzi, L. Brambilla, L. Quetti, L. Sali, L. Ottoboni, M. Meneri, A. Ratti, F. Verde, N. Ticozzi, G.P. Comi, S. Corti, E. Abati
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
2024 S. Lucchiari, F. Fortunato, G. Meola, A. Mignarri, S. Pagliarani, S. Corti, G.P. Comi, D. Ronchi
Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience
2024 D. Gagliardi, E. Canzio, P. Orsini, P. Conti, V. Sinisi, C. Maggiore, M. Carla Santarsia, G. Lagioia, G. Lupis, I. Roppa, G. Scianatico, D. Mancini, S. Corti, G.P. Comi, M. Gentile, D. Gagliardi
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
2024 D. Piga, M. Rimoldi, F. Magri, S. Zanotti, L. Napoli, M. Ripolone, S. Pagliarani, P. Ciscato, D. Velardo, A. D'Amico, E. Bertini, G.P. Comi, D. Ronchi, S. Corti