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
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
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
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
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
Charcot-Marie-Tooth type 2A in vivo models: Current updates
2024 E. Abati, M. Rizzuti, A. Anastasia, G.P. Comi, S. Corti, F. Rizzo
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
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
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
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
2023 M. Ripolone, S. Zanotti, L. Napoli, D. Ronchi, P. Ciscato, G.P. Comi, M. Moggio, M. Sciacco
Intravenous thrombolysis + endovascular thrombectomy versus thrombolysis alone in large vessel occlusion mild stroke: a propensity score matched analysis
2023 G. Schwarz, S. Bonato, S. Lanfranconi, M. Matusevicius, I. Ghione, G. Valcamonica, G. Tsivgoulis, A. Paiva Nunes, M. Mancuso, A. Zini, P. Candelaresi, V. Rand, G.P. Comi, M.V. Mazya, N. Ahmed
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
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
2023 M. Ricci, G. Cicala, A. Capasso, G. Coratti, S. Fiori, C. Cutrona, A. D'Amico, V.A. Sansone, C. Bruno, S. Messina, T. Mongini, M. Coccia, G. Siciliano, E. Pegoraro, R. Masson, M. Filosto, G.P. Comi, S. Corti, D. Ronchi, L. Maggi, M.G. D'Angelo, V. Vacchiano, C. Ticci, L. Ruggiero, L. Verriello, F.S. Ricci, A.L. Berardinelli, M.A. Maioli, M. Garibaldi, V. Nigro, S.C. Previtali, M.C. Pera, E. Tizzano, M. Pane, F.D. Tiziano, E. Mercuri
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
2023 G. Bitetto, G. Lopez, D. Ronchi, A. Pittaro, V. Melzi, E. Peverelli, F.M. Cribiù, G.P. Comi, G. Mantovani, A. Di Fonzo
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
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
2023 D. Ronchi, M. Garbellini, F. Magri, F. Menni, M. Meneri, M.F. Bedeschi, R. Dilena, V. Cecchetti, I. Picciolli, F. Furlan, V. Polimeni, S. Salani, L. Pezzoli, F. Fortunato, M. Bellini, D. Piga, M. Ripolone, S. Zanotti, L. Napoli, P. Ciscato, M. Sciacco, G. Mangili, F. Mosca, S. Corti, M. Iascone, G.P. Comi