SALANI, SABRINA

SALANI, SABRINA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 93 (tempo di esecuzione: 0.0 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
Soft cerebellar signs unveil RARS2‐related epilepsy 2024 Vidal YahyaRobertino DilenaRoberto Del BoManuela MagniFabio BiellaSabrina SalaniFrancesco FortunatoEdoardo Monfrini + 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) -
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene 2023 Ripolone, MichelaSalani, SabrinaCorti, StefaniaComi, Giacomo + Article (author) -
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) -
Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired 2022 Taiana, MichelaGovoni, AlessandraSalani, SabrinaGalli, NoemiSaladini, MatteoBersani, MargheritaDel Bo, RobertoSansone, ValeriaBresolin, NereoComi, GiacomoCorti, StefaniaNizzardo, Monica + 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) -
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia 2022 Aureli, MassimoLunghi, GiuliaSamarani, MauraSalani, Sabrina + Article (author) -
A novel homozygous VPS11 variant may cause generalized dystonia 2021 Monfrini, EdoardoCogiamanian, FilippoSalani, SabrinaStraniero, LetiziaCarsana, EmmaBorellini, LindaBiella, FabioBresolin, NereoCorti, StefaniaDuga, StefanoComi, Giacomo PAureli, Massimo + 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) -
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome 2019 Ronchi, DarioBonato, SaraPittaro, AlessandraCompagnoni, Giacomo MonzioBordoni, AndreinaSalani, SabrinaFrattini, EmanueleLopez, GianlucaCorti, StefaniaComi, Giacomo PBresolin, Nereo + Article (author) -
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies 2019 Salani S.Magri F.Brusa R.Mauri E.Comi G. P.Bresolin N.Corti S. + Article (author) -
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons 2019 Rizzo, FedericaNizzardo, MonicaVashisht, ShikhaMolteni, ErikaTaiana, MichelaSalani, SabrinaBucchia, MonicaBordoni, AndreinaFaravelli, IreneBresolin, NereoComi, Giacomo PietroCorti, Stefania + 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) -
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) -
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) -
Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family 2015 S. PagliaraniA. BordoniS. SalaniG.P. Comi + Article (author) -
Pluripotent stem cell-based models of spinal muscular atrophy 2015 E. FrattiniS. SalaniI. FaravelliM. NizzardoC. SimoneF. MagriS. Corti + Article (author) -
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model 2015 M. NizzardoC. SimoneF. RizzoS. SalaniP. RinchettiR. Del BoS. DamettiN. BresolinG. ComiS. Corti + Conference Object -
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model 2015 M. NizzardoC. SimoneF. RizzoS. SalaniS. DamettiP. RinchettiR. Del BoN. BresolinG.P. ComiS. Corti + Article (author) -