RONCHI, DARIO
RONCHI, DARIO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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: 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
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
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
2023 C. Vinciguerra, A. Di Fonzo, E. Monfrini, D. Ronchi, S. Cuoco, G. Piscosquito, P. Barone, M.T. Pellecchia
Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
2023 D. Gagliardi, P. Ripellino, M. Meneri, R. Del Bo, S. Antognozzi, G.P. Comi, C. Gobbi, A. Ratti, N. Ticozzi, V. Silani, D. Ronchi, S. Corti
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
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
2023 M. Rimoldi, F. Magri, S. Antognozzi, M. Ripolone, S. Salani, D. Piga, L. Bertolasi, S. Zanotti, P. Ciscato, F. Fortunato, M. Moggio, S. Corti, G.P. Comi, D. Ronchi
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
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
2023 S. Zanotti, F. Magri, S. Salani, L. Napoli, M. Ripolone, D. Ronchi, F. Fortunato, P. Ciscato, D. Velardo, M.G. D'Angelo, F. Gualandi, V. Nigro, M. Sciacco, S. Corti, G.P. Comi, D. Piga
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
Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
2023 S. Lanfranconi, E. Scola, J.M.T.A. Meessen, R. Pallini, G.A. Bertani, R. Al-Shahi Salman, E. Dejana, R. Latini, Giorgia Abete Fornara, M.A. Nicolò, A. Albanese, I. Awad, R. Bagnati, G. Balconi, E. Ballabio, E. Beghi, R. Bernasconi, A.B. Giulio, S. Besana, A. Blanda, C. Bossi, N. Bresolin, G.B. Maria, R. Calabrese, R.C. Maria, M. Castori, F.C. Elisa, R. Ciurleo, G.P. Comi, V. Contarino, G. Conte, L. D'Agruma, Q.D. Giorgio, Ugo de Grazia, Rina Di Bonaventura, P. D'Orio, G. Farago', A. Foresta, C. Fusco, C. Gaudino, G.L. Maria, A. Lanno, F. Lazzaroni, C. Lee, M. Locatelli, P.M. Aldo, P. Magnusson, M. Malinverno, M. Mangiavacchi, A. Mangraviti, S. Marino, S. Mazzola, B.N. Enrico, D. Novelli, L.O.F. Maria, A. Petracca, F. Pignotti, S. Pogliani, M. Poloni, A. Prelle, P. Raggi, F. Raucci, C. Regna-Gladin, D. Ronchi, E. Scelzo, S. Seyfried, A. Simeone, L.S. Carmelo, L. Tassi, M. Tettamanti, V. Torri, E. Tournier-Lasserve, R. Treglia, M.T. Fabio, C. Ungaro, E. Ursi, G. Valcamonica, A. Vasami', B. Zarino
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
2023 G. Di Rauso, A. Castellucci, F. Cavallieri, A. Tozzi, V. Fioravanti, E. Monfrini, A. Gessani, J. Rossi, I. Campanini, A. Merlo, D. Ronchi, M. Napoli, R. Pascarella, S. Grisanti, G. Ferrulli, R. Sabadini, A. Di Fonzo, A. Ghidini, F. Valzania
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
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
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
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene
2022 F. Magri, S. Zanotti, S. Salani, F. Fortunato, P. Ciscato, S. Gerevini, L. Maggi, M. Sciacco, M. Moggio, S. Corti, N. Bresolin, G.P. Comi, D. Ronchi
Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction : a trembling balance
2022 A. Manini, E. Abati, G.P. Comi, S. Corti, D. Ronchi
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
2022 A. Manini, D. Gagliardi, M. Meneri, S. Antognozzi, R. Del Bo, C. Scaglione, G.P. Comi, S. Corti, D. Ronchi
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
2022 D. Gagliardi, M. Ahmadinejad, R. Del Bo, M. Meneri, G.P. Comi, S. Corti, D. Ronchi
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
2022 A. Manini, D. Velardo, P. Ciscato, C. Cinnante, M. Moggio, G. Comi, S. Corti, D. Ronchi