COMI, GIACOMO PIETRO
COMI, GIACOMO PIETRO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
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
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
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
Locus for severity implicates CNS resilience in progression of multiple sclerosis
2023 A. Harroud, P. Stridh, J.L. Mccauley, J. Saarela, A.M.R. van den Bosch, H.J. Engelenburg, A.H. Beecham, L. Alfredsson, K. Alikhani, L. Amezcua, T.F.M. Andlauer, M. Ban, L.F. Barcellos, N. Barizzone, T. Berge, A. Berthele, S. Bittner, S.D. Bos, F.B.S. Briggs, S.J. Caillier, P.A. Calabresi, D. Caputo, D.X. Carmona-Burgos, P. Cavalla, E.G. Celius, G. Cerono, A.R. Chinea, T. Chitnis, F. Clarelli, M. Comabella, G. Comi, C. Cotsapas, B.C.A. Cree, S. D'Alfonso, E. Dardiotis, P.L. De Jager, S.R. Delgado, B. Dubois, S. Engel, F. Esposito, M.J. Fabis-Pedrini, M. Filippi, K.C. Fitzgerald, C. Gasperi, L. Gomez, R. Gomez, G. Hadjigeorgiou, J. Hamann, F. Held, R.G. Henry, J. Hillert, J. Huang, I. Huitinga, T. Islam, N. Isobe, M. Jagodic, A.G. Kermode, M. Khalil, T.J. Kilpatrick, I. Konidari, K.L. Kreft, J. Lechner-Scott, M. Leone, F. Luessi, S. Malhotra, A. Manouchehrinia, C.P. Manrique, F. Martinelli Boneschi, A.C. Martinez, V. Martinez-Maldonado, E. Mascia, L.M. Metz, L. Midaglia, X. Montalban, J.R. Oksenberg, T. Olsson, A. Oturai, K. Paakkonen, G.P. Parnell, N.A. Patsopoulos, M.A. Pericak-Vance, F. Piehl, J.P. Rubio, A. Santaniello, S. Santoro, C. Schaefer, F. Sellebjerg, H. Shams, K. Shchetynsky, C. Silva, V. Siokas, H.B. Sondergaard, M. Sorosina, B. Taylor, M. Vandebergh, E.S. Vasileiou, D. Vecchio, M.M. Voortman, H.L. Weiner, D. Wever, V.W. Yong, D.A. Hafler, G.J. Stewart, A. Compston, F. Zipp, H.F. Harbo, B. Hemmer, A. Goris, J. Smolders, S.L. Hauser, I. Kockum, S.J. Sawcer, S.E. Baranzini, A. Harroud, I. Jonsdottir, Y. Blanco, S. Llufriu, L. Madireddy, A. Saiz, P. Villoslada, K. Stefansson
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
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients
2023 G. Ricci, F. Torri, A. Govoni, R. Chiappini, L. Manca, G. Vadi, S. Roccella, F. Magri, M. Meneri, F. Fassini, V. Vacchiano, S. Tomassini, N. Gironella, M. Coccia, G. Comi, R. Liguori, G. Siciliano