RONCHI, DARIO

RONCHI, DARIO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

Risultati 1 - 20 di 151 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 1-gen-2010 D. RonchiA. Di FonzoF. GalliaE. FassoneS. SalaniA. BordoniR. Del BoS. CortiE. Nobile-OrazioG. P. Comi + Conference Object -
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 1-gen-2011 D. RonchiA. Di FonzoE. FassoneS. SalaniA. BordoniR. Del BoS. CortiE. Nobile-OrazioG.P. Comi + Conference Object -
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 1-gen-2009 D. RonchiC. LampertiA. BordoniF. MagriN. BresolinG. P. Comi + Article (author) -
Adult form type II Glycogen Storage Disease in a Northern Italy population :_phenotype, charatcerization, early diagnosis and prognostic determinants 1-gen-2008 D. RonchiC. LampertiM.G. D'AngeloA. BordoniF. MagriN. BresolinG.P. Comi + Article (author) -
Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction 15-gen-2009 S. CortiD. RonchiA. BordoniF. FortunatoD. SantoroR. Del BoV. LucchiniV. CrugnolaD. PapadimitriouS. SalaniN. BresolinG.P. Comi + Article (author) -
Analisi di modelli cellulari in cui è compromessa l’attività di GFER, proteina chiave del Disulfide Relay System 1-gen-2010 D. RonchiA. Di FonzoFASSONE, ELISAA. BordoniF. FortunatoG.P. Comi + Conference Object -
Analisi molecolare del gene GAA e caratterizzazione di due nuove mutazioni di splicing in pazienti con deficit di maltasi acida. 1-gen-2008 D. RonchiA. BordoniE. FassoneF. MagriG.P. ComiM. Nizzardo + Conference Object -
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A 1-gen-2010 D. RonchiA. BordoniF. FortunatoE. FassoneP. VeggiottiG.P. Comi + Conference Object -
Autosomal Recessive Ala93Thr mutation in caveolin-3 gene : a new family 1-ott-2008 F.M.B. MagriC. LampertiD. RonchiE. FassoneN. BresolinG.P. Comi + Article (author) -
Beta-lactam antibiotic offer neuroprotection in a spinal muscular atrophy mouse model by multiple mechanisms 1-gen-2010 M. NizzardoM. NardiniD. RonchiSabrina SalaniC. SimoneM. FalconeG.P. ComiS. Corti. + Conference Object -
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 1-giu-2011 M. NizzardoNARDINI, MARTINAD. RonchiS. SalaniDONADONI, CHIARAF. FortunatoFALCONE, MARIANNAC. SimoneG. RiboldiGOVONI, ALESSANDRAN. BresolinG.P. ComiS. Corti + Article (author) -
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms 1-gen-2011 M. NizzardoM. NardiniD. RonchiS. SalaniF. FortunatoM. FalconeC. SimoneA. GovoniN. BresolinG.P. ComiS. Corti + Article (author) -
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies 1-gen-2017 Comi, Giacomo P.Ronchi, Dario + Article (author) -
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions 1-gen-2022 Nasca A.Meneri M.Comi G. P.Catania A.Lamperti C.Ronchi D.Ghezzi D. + Article (author) -
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature 31-gen-2019 Gagliardi, DeliaMauri, EleonoraMagri, FrancescaMeneri, MegiAbati, ElenaBrusa, RobertaFaravelli, IreneRonchi, DarioTriulzi, FabioPeverelli, LorenzoBresolin, NereoComi, Giacomo PietroCorti, StefaniaGovoni, Alessandra + Article (author) -
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC 1-gen-2010 V. LucchiniD. RonchiM. G. D'AngeloA. BordoniL. PeverelliN. BresolinG.P. Comi + Conference Object -
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 7-nov-2020 Manini, AriannaBocci, TommasoMonfrini, EdoardoRonchi, DarioFranco, GiuliaDe Rosa, AnnaPriori, AlbertoCorti, StefaniaComi, Giacomo PietroBresolin, NereoBasso, Manuela + Article (author) -
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression 1-gen-2022 Manini A.Meneri M.Corti S.Comi G. P.Ronchi D. + Article (author) -
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 1-gen-2008 M. ServidaD. RonchiA. BordoniG. ComiN. Bresolin + Conference Object -
Cephalalgia, myopathy and familial dementia with CADASIL-like MRI and multiple mtDNA deletions 1-giu-2008 M. ServidaD. RonchiA. BordoniG.P. ComiN. Bresolin + Article (author) -