CORTI, STEFANIA PAOLA

CORTI, STEFANIA PAOLA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Titolo Data di pubblicazione Autori Tipo File Abstract
5 ' azacytidine enhances exogenous gene expression in skeletal muscle 1-gen-1999 Y. TorrenteA. BordoniS. CortiR. Del BoG. ComiN. Bresolin + Article (author) -
5'azacytidine enhances exogenous gene expression in muscle 1-gen-1997 Y. TorrenteS. CortiG. ComiN. Bresolin + Article (author) -
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) -
A CAV3 microdeletion differentially affects skeletal muscle and myocardium 1-gen-2003 N. BresolinF. FortunatoS. CortiG. Comi + Article (author) -
A cortically blind patient with preserved visual imagery 1-mar-2010 S. ZagoS.P. CortiA. BersanoE. BallabioS. LanfranconiC.M. CinnanteN. Bresolin + Article (author) -
A de novo C19orf12 heterozygous mutation in a patient with MPAN 1-mar-2017 E. MonfriniD. RonchiR. DilenaA. BordoniN. BresolinG. P. ComiS. CortiA. Di Fonzo + Article (author) -
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis 15-apr-2014 A. RattiC. TilocaS. CortiD. GentiliniD. CaliniR. Del BoN. TicozziG.P. ComiV. Silani + Article (author) -
A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cells 1-gen-2011 S. CortiF. MagriM. NizzardoC. SimoneM. FalconeS. SalaniC. DonadoniM. NardiniRIBOLDI, GIOVANNAF. RizzoN. BresolinG. Comi + Article (author) -
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature 1-giu-2018 Brusa, RobertaMagri, FrancescaPapadimitriou, DimitraGovoni, AlessandraDel Bo, RobertoCinnante, ClaudiaCorti, StefaniaBresolin, NereoComi, Giacomo Pietro + Article (author) -
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations 3-ago-2014 S. LanfranconiD. RonchiP. BasilicoN. BresolinG.P. ComiS. Corti + Article (author) -
A novel CHRNE gene mutation associated with congenital myasthenia: case report and review of the literature 1-gen-2010 F. MagriA. GovoniR. Del BoN. BresolinG.P. ComiS. Corti + Conference Object -
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism 1-mar-2015 E. MonfriniG. FrancoL. BorelliniI. TrezziG. Monzio CompagnoniD. RonchiS. BonatoN. BresolinS. CortiG.P. Comi + Article (author) -
A novel homozygous VPS11 variant may cause generalized dystonia 1-gen-2021 Monfrini, EdoardoCogiamanian, FilippoSalani, SabrinaStraniero, LetiziaCarsana, EmmaBorellini, LindaBiella, FabioBresolin, NereoCorti, StefaniaDuga, StefanoComi, Giacomo PAureli, Massimo + Article (author) -
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 -
A novel missense mutation of IGHMBP2 gene in an Italian infant with spinal muscular atrophy with respiratory distress type 1 1-gen-2005 R. Del BoS. BonatoROSSETTI, GIORGIAS. CortiN. BresolinV. CarnelliG.P. Comi + Article (author) -
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome 1-set-2022 Fumagalli, MonicaRonchi, DarioManini, AriannaMosca, FabioDilena, RobertinoTriulzi, FabioCorti, StefaniaComi, Giacomo P + Article (author) -
A novel splice site mutation (3157+1G > T) in the dystrophin gene causing total exon skipping and DMD phenotype 1-gen-2001 S. CortiG. Comi + Article (author) -
A novel splice-site mutation in SMN1 resulting in a very severe SMA1 phenotype 1-gen-2014 D. RonchiF. MagriS. CortiG.P. Comi + Article (author) -
A splicing site OPA1 mutation associated with autosomal dominant optic atrophy in an Italian family 1-gen-2010 M. RanieriR. Del BoS. CortiA. BordoniN. BresolinG.P. Comi + Conference Object -