COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
Diffusion tensor imaging reveals subclinical alterations in muscles of patients with Becker muscular dystrophy
2024 S. Nava, G. Conte, F.M. Triulzi, G.P. Comi, F. Magri, D. Velardo, C.M. Cinnante
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
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
2024 E. Mercuri, J.J. Vilchez, O. Boespflug-Tanguy, C.M. Zaidman, J.K. Mah, N. Goemans, W. Müller-Felber, E.H. Niks, U. Schara-Schmidt, E. Bertini, G.P. Comi, K.D. Mathews, L. Servais, K. Vandenborne, J. Johannsen, S. Messina, S. Spinty, L. Mcadam, K. Selby, B. Byrne, C.G. Laverty, K. Carroll, G. Zardi, S. Cazzaniga, N. Coceani, P. Bettica, C.M. Mcdonald
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
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
2024 S.K. Aburahma, L.A. Rousan, M. Shboul, F. Biella, S. Lucchiari, G.P. Comi, G. Meola, S. Pagliarani
Unleashing the potential of mRNA therapeutics for inherited neurological diseases
2024 E. Monfrini, G. Baso, D. Ronchi, M. Meneri, D. Gagliardi, L. Quetti, F. Verde, N. Ticozzi, A. Ratti, A. Di Fonzo, G.P. Comi, L. Ottoboni, S. Corti
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
Charcot-Marie-Tooth type 2A in vivo models: Current updates
2024 E. Abati, M. Rizzuti, A. Anastasia, G.P. Comi, S. Corti, F. Rizzo
Verbal learning in frontal patients: area 9 is critical for employing semantic strategies
2024 A. Cocuzza, G. Bertani, G. Conte, E.N. Aiello, B. Zarino, T. Difonzo, S. Zago, L. Tariciotti, C. Gendarini, E. Baratelli, F. Verde, B. Poletti, N. Ticozzi, M. Pluderi, M. Locatelli, G.P. Comi, M.C. Saetti
Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
2024 C. Alberti, F. Rizzo, A. Anastasia, G. Comi, S. Corti, E. Abati
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
2024 S. Donkervoort, M. van de Locht, D. Ronchi, J. Reunert, C.A. Mclean, M. Zaki, R. Orbach, J.M. de Winter, S. Conijn, D. Hoomoedt, O.L.A. Neto, F. Magri, A.N. Viaene, A.R. Foley, S. Gorokhova, V. Bolduc, Y. Hu, N. Acquaye, L. Napoli, J.H. Park, K. Immadisetty, L.B. Miles, M. Essawi, S. Mcmodie, L.F. Ferreira, S. Zanotti, S.B. Neuhaus, L. Medne, N. Elbagoury, K.R. Johnson, Y. Zhang, N.G. Laing, M.R. Davis, R.J. Bryson-Richardson, D.T. Hwee, J.J. Hartman, F.I. Malik, P.M. Kekenes-Huskey, G.P. Comi, W. Sharaf-Eldin, T. Marquardt, G. Ravenscroft, C.G. Bönnemann, C.A.C. Ottenheijm
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy
2024 D. Piga, S. Zanotti, M. Ripolone, L. Napoli, P. Ciscato, S. Gibertini, L. Maggi, F. Fortunato, A. Rigamonti, D. Ronchi, G.P. Comi, S. Corti, M. Sciacco
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey
2023 G. Coratti, M. Ricci, A. Capasso, A. D'Amico, V. Sansone, C. Bruno, S. Messina, F. Ricci, T. Mongini, M. Coccia, G. Siciliano, E. Pegoraro, M. Turri, M. Filosto, G. Comi, R. Masson, L. Maggi, I. Bruno, M.G. D'Angelo, A. Trabacca, V. Vacchiano, M. Donati, I. Simone, L. Ruggiero, A. Varone, L. Verriello, A. Berardinelli, C. Agosto, A. Pini, M.A. Maioli, L. Passamano, F. Brighina, N. Carboni, M. Garibaldi, R. Zuccarino, D. Gagliardi, S. Siliquini, S. Previtali, D. Taruscio, S. Boccia, M.C. Pera, M. Pane, E. Mercuri
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy
2023 D. Velardo, S. Antognozzi, M. Rimoldi, S. Pagliarani, F. Cogiamanian, S. Barbieri, S. Corti, G.P. Comi, D. Ronchi
Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field
2023 G. Furciniti, G. Casalino, F.M. Lo Russo, N. Bolli, M. Meneri, G.P. Comi, S.P. Corti, D. Velardo
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene
2023 S. Zanotti, M. Ripolone, L. Napoli, D. Velardo, S. Salani, P. Ciscato, S. Priori, D. Kukavica, A. Mazzanti, L. Diamanti, E. Vegezzi, M. Moggio, S. Corti, G. Comi, M. Sciacco
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A
2023 F. Rizzo, S. Bono, M.D. Ruepp, S. Salani, L. Ottoboni, E. Abati, V. Melzi, C. Cordiglieri, S. Pagliarani, R. De Gioia, A. Anastasia, M. Taiana, M. Garbellini, S. Lodato, P. Kunderfranco, D. Cazzato, D. Cartelli, C. Lonati, N. Bresolin, G. Comi, M. Nizzardo, S. Corti
Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
2023 I. Faravelli, D. Gagliardi, E. Abati, M. Meneri, J. Ongaro, F. Magri, V. Parente, L. Petrozzi, G. Ricci, F. Farè, G. Garrone, M. Fontana, D. Caruso, G. Siciliano, G.P. Comi, A. Govoni, S. Corti, L. Ottoboni
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
2023 A. Manini, D. Gagliardi, M. Meneri, S. Antognozzi, R. Del Bo, G.P. Comi, S. Corti, D. Ronchi