RONCHI, DARIO

RONCHI, DARIO  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy 2023 Ronchi, DarioMagri, FrancescaMeneri, MegiDilena, RobertinoPicciolli, IreneSalani, SabrinaFortunato, FrancescoMosca, FabioCorti, StefaniaComi, Giacomo Pietro + Article (author) -
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation 2020 Manini, AriannaBocci, TommasoMonfrini, EdoardoRonchi, DarioFranco, GiuliaDe Rosa, AnnaPriori, AlbertoCorti, StefaniaComi, Giacomo PietroBresolin, NereoBasso, Manuela + Article (author) -
A de novo C19orf12 heterozygous mutation in a patient with MPAN 2017 E. MonfriniD. RonchiR. DilenaA. BordoniN. BresolinG. P. ComiS. CortiA. Di Fonzo + Article (author) -
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations 2014 S. LanfranconiD. RonchiP. BasilicoN. BresolinG.P. ComiS. Corti + Article (author) -
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 2015 E. MonfriniG. FrancoL. BorelliniI. TrezziG. Monzio CompagnoniD. RonchiS. BonatoN. BresolinS. CortiG.P. Comi + Article (author) -
A novel MAPT mutation associated to late-onset spinal muscular atrophy without dementia in a large Italian family 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 2011 D. RonchiA. Di FonzoE. FassoneS. SalaniA. BordoniR. Del BoS. CortiE. Nobile-OrazioG.P. Comi + Conference Object -
A novel mutation in the mitochondrial tRNA LeuCUN gene associated with a mitochondrial myopathy with respiratory impairment 2007 R. VirgilioA. BordoniD. RonchiF. SaladinoN. BresolinG.P. Comi + Article (author) -
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome 2022 Fumagalli, MonicaRonchi, DarioManini, AriannaMosca, FabioDilena, RobertinoTriulzi, FabioCorti, StefaniaComi, Giacomo P + Article (author) -
A novel splice-site mutation in SMN1 resulting in a very severe SMA1 phenotype 2014 D. RonchiF. MagriS. CortiG.P. Comi + Article (author) -
A novel, autosomal recessive mitochondrial diroder due to loss of function of MGME1, involved in mitochondrial DNA replication 2013 D. RonchiA. BordoniI.G. VetranoG.P. Comi + Article (author) -
A severe pediatric case of congenital Myastenic Syndrome due to a novel mutation in COLQ gene 2013 S. PagliaraniR. Del BoD. RonchiI. G. VetranoN. BresolinG.P. Comi + Article (author) -
Adult Form Type II Glycogen Storage Disease in a Northern Italy Population : Phenotype Characterization, Early Diagnosis and Prognostic Determinants 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 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 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 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. 2008 D. RonchiA. BordoniE. FassoneF. MagriG.P. ComiM. Nizzardo + Conference Object -
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis 2022 Manini, AriannaGagliardi, DeliaMeneri, MegiDel Bo, RobertoComi, Giacomo PietroCorti, StefaniaRonchi, Dario + Article (author) -
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene 2022 Magri, FrancescaSalani, SabrinaFortunato, FrancescoMaggi, LorenzoCorti, StefaniaBresolin, NereoComi, Giacomo PietroRonchi, Dario + Article (author) -
Aspetti clinici e molecolari in un paziente pediatrico affetto da Sindrome di Leigh associata alla mutazione mitocondriale m.14459G>A 2010 D. RonchiA. BordoniF. FortunatoE. FassoneP. VeggiottiG.P. Comi + Conference Object -