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
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
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
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
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
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
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
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
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
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
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
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
2023 F. Invernizzi, R. Izzo, I. Colangelo, A. Legati, N. Zanetti, B. Garavaglia, E. Lamantea, L. Peverelli, A. Ardissone, I. Moroni, L. Maggi, S. Bonanno, L. Fiori, D. Velardo, F. Magri, G.P. Comi, D. Ronchi, D. Ghezzi, C. Lamperti
Lafora Disease: A Case Report and Evolving Treatment Advancements
2023 C.R. Ferrari Aggradi, M. Rimoldi, G. Romagnoli, D. Velardo, M. Meneri, D. Iacobucci, M. Ripolone, L. Napoli, P. Ciscato, M. Moggio, G.P. Comi, D. Ronchi, S. Corti, E. Abati
Verbal Learning Impairment in Parkinson's Disease: Role of the Frontostriatal System in Working and Strategic Memory
2023 A. Cocuzza, T. Difonzo, E.N. Aiello, L.P.E. Sbrissa, S. Zago, C. Gendarini, M.A. Sirtori, B. Poletti, N. Ticozzi, G. Franco, A. Di Fonzo, G.P. Comi, M.C. Saetti
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
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
2023 E. Monfrini, A. Pesini, F. Biella, C.F.R. Sobreira, V. Emmanuele, G. Brescia, L.C. Lopez, S. Tadesse, M. Hirano, G.P. Comi, C.M. Quinzii, A. Di Fonzo
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
Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study
2023 G.P. Comi, E.H. Niks, K. Vandenborne, C.M. Cinnante, H.E. Kan, R.J. Willcocks, D. Velardo, F. Magri, M. Ripolone, J.J. van Benthem, N.M. van de Velde, S. Nava, L. Ambrosoli, S. Cazzaniga, P.U. Bettica