FORTUNATO, FRANCESCO RANIERI

FORTUNATO, FRANCESCO RANIERI  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 105 (tempo di esecuzione: 0.007 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant 2023 Magri, FrancescaRipolone, MichelaSalani, SabrinaFortunato, FrancescoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes 2023 Ronchi, DarioFortunato, FrancescoCorti, StefaniaComi, Giacomo Pietro + Article (author) -
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) -
Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study 2022 Canevini, Maria PaolaFortunato, FrancescoVignoli, Aglaia + Article (author) -
Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant 2022 Yahya, VidalDe Marco, PaoloFortunato, FrancescoComi, Giacomo PMonfrini, Edoardo + 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) -
Immunoproteasome Inhibition Ameliorates Aged Dystrophic Mouse Muscle Environment 2022 Luana TripodiFrancesco FortunatoBarbara CassaniYvan Torrente + Article (author) -
TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models 2022 Miriam LongoMarica MeroniErika PaoliniFrancesco FortunatoDario RonchiRoberto PiciottiChiara MacchiGiacomo Pietro ComiLuca ValentiMassimiliano RuscicaAnna L. FracanzaniPaola Dongiovanni + Article (author) -
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review 2022 Napoli, LauraMilani, DonatellaFortunato, FrancescoCorti, StefaniaComi, Giacomo PietroRonchi, Dario + Article (author) -
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy 2022 Fortunato, FrancescoCorti, StefaniaComi, Giacomo Pietro + Article (author) -
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy 2022 Ripolone M.Magri F.Fortunato F.Comi G. P. + Article (author) -
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency 2020 Ronchi, DarioMonfrini, EdoardoBonato, SaraCinnante, ClaudiaSalani, SabrinaBordoni, AndreinaFortunato, FrancescoCorti, StefaniaBresolin, NereoComi, Giacomo P + Article (author) -
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 2020 Magri F.Brusa R.Bello L.Peverelli L.Govoni A.Cinnante C.Colombo I.Fortunato F.Corti S.Bresolin N.Comi G. P. + Article (author) -
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice 2018 Pagliarani, SerenaLucchiari, SabrinaFortunato, FrancescoBordoni, AndreinaCorti, StefaniaBresolin, NereoComi, Giacomo P. + Article (author) -
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy 2018 Monzio Compagnoni, GiacomoBordoni, AndreinaFortunato, FrancescoRonchi, DarioSalani, SabrinaREALE, CHIARACogiamanian, FilippoArdolino, GianlucaBresolin, NereoCorti, StefaniaComi, Giacomo P.Di Fonzo, Alessio + Article (author) -
Genome-wide RNA-seq and proteomic analysis of motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease, partially rescued by riboflavin 2017 F. RizzoA. RamirezS. SalaniA. BordoniF. FortunatoN. BresolinG.P. ComiM. NizzardoS. Corti + Article (author) -
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) 2017 D. RonchiA. BordoniF. FortunatoG.P. Comi + Article (author) -
Generation and characterization of iPSC-derived cortical pyramidal neurons from patients affected by multiple system atrophy 2016 G. Monzio CompagnoniE. FrattiniS. SalaniF. FortunatoN. BresolinG.P. ComiS. CortiA. Di Fonzo Article (author) -
Changes in whole-body oxygen consumption and skeletal muscle mitochondria during linezolid-induced lactic acidosis 2016 A. ProttiD. RonchiG. BassiF. FortunatoA. Bordoni + Article (author) -
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons 2016 RIZZO, FEDERICAD. RonchiS. SalaniM. NizzardoF. FortunatoA. BordoniR. Del BoN. BresolinG.P. ComiS. Corti + Article (author) -