RONCHI, DARIO
RONCHI, DARIO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family
2010-01-01 D. Ronchi, A. Di Fonzo, F. Gallia, E. Fassone, C. Donadoni, S. Salani, A. Bordoni, M. Rizzuti, R. Del Bo, S. Corti, G. Sacilotto, E. Nobile-Orazio, G.P. Comi
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family
2011-01-01 D. Ronchi, A. Di Fonzo, F. Gallia, E. Fassone, C. Donadoni, S. Salani, A. Bordoni, M. Rizzuti, R. Del Bo, S. Corti, G. Sacilotto, E. Nobile-Orazio, G.P. Comi
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants
2009-01-01 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G.P. Comi
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants
2008-01-01 G. Remiche, D. Ronchi, C. Lamperti, M.G. D'Angelo, A. Bordoni, C. Montrasio, V. Crugnola, F. Magri, M. Moggio, N. Bresolin, G.P. Comi
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction
2009-01-15 S. Corti, C. Donadoni, D. Ronchi, A. Bordoni, F. Fortunato, D. Santoro, R. Del Bo, V. Lucchini, V. Crugnola, D. Papadimitriou, S. Salani, M. Moggio, N. Bresolin, G.P. Comi
Analisi di modelli cellulari in cui è compromessa l’attività di GFER, proteina chiave del Disulfide Relay System
2010-01-01 D. Ronchi, A. Di Fonzo, E. Fassone, M. Rizzuti, A. Bordoni, A. Cosi, F. Fortunato, G.P. Comi
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida.
2008-01-01 D. Ronchi, G. Remiche, A. Bordoni, E. Fassone, C. Montrasio, F. Magri, G.P. Comi, M. Nizzardo
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A
2010-01-01 D. Ronchi, S. Orcesi, A. Bordoni, F. Fortunato, E. Fassone, M. Rizzuti, A. Cosi, M. Moggio, A. Berardinelli, P. Veggiotti, G.P. Comi
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family
2008-10-01 F.M.B. Magri, C. Lamperti, D. Ronchi, E. Fassone, N. Grimoldi, M. Moggio, N. Bresolin, G.P. Comi
Beta-lactam antibiotic offer neuroprotection in a spinal muscular atrophy mouse model by multiple mechanisms
2010-01-01 M. Nizzardo, M. Nardini, D. Ronchi, S. Salani, C. Simone, M. Falcone, C. Donadoni, G.P. Comi, S.P. Corti
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms
2011-06-01 M. Nizzardo, M. Nardini, D. Ronchi, S. Salani, C. Donadoni, F. Fortunato, G. Colciago, M. Falcone, C. Simone, G. Riboldi, A. Govoni, N. Bresolin, G.P. Comi, S. Corti, S. Bhatia
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms
2011-01-01 M. Nizzardo, M. Nardini, D. Ronchi, S. Salani, C. Donadoni, F. Fortunato, G. Colciago, M. Falcone, C. Simone, G. Riboldi, A. Govoni, N. Bresolin, G.P. Comi, S. Corti
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
2017-01-01 R.G. Feichtinger, M. Oláhová, Y. Kishita, C. Garone, L.S. Kremer, M. Yagi, T. Uchiumi, A.A. Jourdain, K. Thompson, A.R. D'Souza, R. Kopajtich, C.L. Alston, J. Koch, W. Sperl, E. Mastantuono, T.M. Strom, S.B. Wortmann, T. Meitinger, G. Pierre, P.F. Chinnery, Z.M. Chrzanowska-Lightowlers, R.N. Lightowlers, S. Dimauro, S.E. Calvo, V.K. Mootha, M. Moggio, M. Sciacco, G.P. Comi, D. Ronchi, K. Murayama, A. Ohtake, P. Rebelo-Guiomar, M. Kohda, D. Kang, J.A. Mayr, R.W. Taylor, Y. Okazaki, M. Minczuk, H. Prokisch
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
2022-01-01 A. Nasca, A. Legati, M. Meneri, M.E. Ermert, C. Frascarelli, N. Zanetti, M. Garbellini, G.P. Comi, A. Catania, C. Lamperti, D. Ronchi, D. Ghezzi
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
2019-01-31 D. Gagliardi, E. Mauri, F. Magri, D. Velardo, M. Meneri, E. Abati, R. Brusa, I. Faravelli, D. Piga, D. Ronchi, F. Triulzi, L. Peverelli, M. Sciacco, N. Bresolin, G.P. Comi, S. Corti, A. Govoni
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC
2010-01-01 V. Crugnola, V. Lucchini, D. Ronchi, M.G. D'Angelo, A. Bordoni, G. Fagiolari, L. Peverelli, S. Jann, N. Bresolin, G.P. Comi, M. Moggio, M. Sciacco
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
2020-11-07 A. Manini, T. Bocci, A. Migazzi, E. Monfrini, D. Ronchi, G. Franco, A. De Rosa, F. Sartucci, A. Priori, S. Corti, G.P. Comi, N. Bresolin, M. Basso, A. Di Fonzo
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
2022-01-01 A. Manini, M. Meneri, C. Rodolico, S. Corti, A. Toscano, G.P. Comi, O. Musumeci, D. Ronchi
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions
2008-01-01 M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G. Comi, M. Moggio, N. Bresolin, M. Sciacco
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions
2008-06-01 M. Servida, L. Napoli, D. Ronchi, P. Ciscato, A. Bordoni, A. Prelle, G.P. Comi, M. Moggio, N. Bresolin, M. Sciacco