RONCHI, DARIO
RONCHI, DARIO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
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
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
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
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
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
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
Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
2022 A. Manini, L. Caporali, M. Meneri, S. Zanotti, D. Piga, I.G. Arena, S. Corti, A. Toscano, G.P. Comi, O. Musumeci, V. Carelli, D. Ronchi
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
2022 A. Manini, M. Meneri, C. Rodolico, S. Corti, A. Toscano, G.P. Comi, O. Musumeci, D. Ronchi
Mitochondrial DNA homeostasis impairment and dopaminergic dysfunction : a trembling balance
2022 A. Manini, E. Abati, G.P. Comi, S. Corti, D. Ronchi
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models
2022 M. Longo, M. Meroni, E. Paolini, V. Erconi, F. Carli, F.R. Fortunato, D. Ronchi, R. Piciotti, S. Sabatini, C. Macchi, A. Alisi, L. Miele, G. Soardo, G.P. Comi, L.V.C. Valenti, M. Ruscica, A.L. Fracanzani, A. Gastaldelli, P. Dongiovanni
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome
2022 M. Fumagalli, D. Ronchi, M.F. Bedeschi, A. Manini, G. Cristofori, F. Mosca, R. Dilena, M. Sciacco, S. Zanotti, D. Piga, G. Ardissino, F. Triulzi, S. Corti, G.P. Comi, L. Salviati
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
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
2022 D. Velardo, M.G. D'Angelo, A. Citterio, E. Panzeri, L. Napoli, C. Cinnante, M. Moggio, G.P. Comi, D. Ronchi, M.T. Bassi