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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons.
Published in:
2019
By:
- Rizzo, Federica;
- Nizzardo, Monica;
- Vashisht, Shikha;
- Molteni, Erika;
- Melzi, Valentina;
- Taiana, Michela;
- Salani, Sabrina;
- Santonicola, Pamela;
- Schiavi, Elia Di;
- Bucchia, Monica;
- Bordoni, Andreina;
- Faravelli, Irene;
- Bresolin, Nereo;
- Comi, Giacomo Pietro;
- Pozzoli, Uberto;
- Corti, Stefania;
- Di Schiavi, Elia
Publication type:
journal article
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5551, doi. 10.3390/ijms24065551
By:
- Zanotti, Simona;
- Magri, Francesca;
- Salani, Sabrina;
- Napoli, Laura;
- Ripolone, Michela;
- Ronchi, Dario;
- Fortunato, Francesco;
- Ciscato, Patrizia;
- Velardo, Daniele;
- D'Angelo, Maria Grazia;
- Gualandi, Francesca;
- Nigro, Vincenzo;
- Sciacco, Monica;
- Corti, Stefania;
- Comi, Giacomo Pietro;
- Piga, Daniela
Publication type:
Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
By:
- Magri, Francesca;
- Zanotti, Simona;
- Salani, Sabrina;
- Fortunato, Francesco;
- Ciscato, Patrizia;
- Gerevini, Simonetta;
- Maggi, Lorenzo;
- Sciacco, Monica;
- Moggio, Maurizio;
- Corti, Stefania;
- Bresolin, Nereo;
- Comi, Giacomo Pietro;
- Ronchi, Dario
Publication type:
Article
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.
Published in:
2008
By:
- Corti, Stefania;
- Nizzardo, Monica;
- Nardini, Martina;
- Donadoni, Chiara;
- Salani, Sabrina;
- Ronchi, Dario;
- Saladino, Francesca;
- Bordoni, Andreina;
- Fortunato, Francesco;
- Del Bo, Roberto;
- Papadimitriou, Dimitra;
- Locatelli, Federica;
- Menozzi, Giorgia;
- Strazzer, Sandra;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
journal article
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.
Published in:
Scientific Reports, 2017, p. 46271, doi. 10.1038/srep46271
By:
- Rizzo, Federica;
- Ramirez, Agnese;
- Compagnucci, Claudia;
- Salani, Sabrina;
- Melzi, Valentina;
- Bordoni, Andreina;
- Fortunato, Francesco;
- Niceforo, Alessia;
- Bresolin, Nereo;
- Comi, Giacomo P.;
- Bertini, Enrico;
- Nizzardo, Monica;
- Corti, Stefania
Publication type:
Article
Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1).
Published in:
Journal of Neuroscience, 2009, v. 29, n. 38, p. 11761, doi. 10.1523/JNEUROSCI.2734-09.2009
By:
- Corti, Stefania;
- Nizzardo, Monica;
- Nardini, Martina;
- Donadoni, Chiara;
- Salani, Sabrina;
- Del Bo, Roberto;
- Papadimitriou, Dimitra;
- Locatelli, Federica;
- Mezzina, Nicoletta;
- Gianni, Francesca;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms.
Published in:
Annals of Neurosciences, 2011, v. 18, n. 4, p. 156, doi. 10.5214/ans.0972.7531.1118407
By:
- Nizzardo, Monica;
- Nardini, Martina;
- Ronchi, Dario;
- Salani, Sabrina;
- Donadoni, Chiara;
- Fortunato, Francesco;
- Colciago, Giorgia;
- Falcone, Marianna;
- Simone, Chiara;
- Riboldi, Giulietta;
- Govoni, Alessandra;
- Bresolin, Nereo;
- Comi, Giacomo P.;
- Corti, Stefania;
- Bhatia, Sonu
Publication type:
Article
Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies.
Published in:
Journal of Cellular & Molecular Medicine, 2012, v. 16, n. 7, p. 1353, doi. 10.1111/j.1582-4934.2011.01498.x
By:
- Salani, Sabrina;
- Donadoni, Chiara;
- Rizzo, Federica;
- Bresolin, Nereo;
- Comi, Giacomo P.;
- Corti, Stefania
Publication type:
Article
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A.
Published in:
Cellular & Molecular Life Sciences, 2023, v. 80, n. 12, p. 1, doi. 10.1007/s00018-023-05018-w
By:
- Rizzo, Federica;
- Bono, Silvia;
- Ruepp, Marc David;
- Salani, Sabrina;
- Ottoboni, Linda;
- Abati, Elena;
- Melzi, Valentina;
- Cordiglieri, Chiara;
- Pagliarani, Serena;
- De Gioia, Roberta;
- Anastasia, Alessia;
- Taiana, Michela;
- Garbellini, Manuela;
- Lodato, Simona;
- Kunderfranco, Paolo;
- Cazzato, Daniele;
- Cartelli, Daniele;
- Lonati, Caterina;
- Bresolin, Nereo;
- Comi, Giacomo
Publication type:
Article
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 2, p. 465, doi. 10.1093/brain/awp318
By:
- Corti, Stefania;
- Nizzardo, Monica;
- Nardini, Martina;
- Donadoni, Chiara;
- Salani, Sabrina;
- Ronchi, Dario;
- Simone, Chiara;
- Falcone, Marianna;
- Papadimitriou, Dimitra;
- Locatelli, Federica;
- Mezzina, Nicoletta;
- Gianni, Francesca;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Neural stem cells LewisX + CXCR4 + modify disease progression in an amyotrophic lateral sclerosis model.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 5, p. 1289, doi. 10.1093/brain/awm043
By:
- Stefania Corti;
- Federica Locatelli;
- Dimitra Papadimitriou;
- Roberto Del Bo;
- Monica Nizzardo;
- Martina Nardini;
- Chiara Donadoni;
- Sabrina Salani;
- Francesco Fortunato;
- Sandra Strazzer;
- Nereo Bresolin;
- Giacomo P. Comi
Publication type:
Article
Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 839, doi. 10.1002/acn3.51025
By:
- Ronchi, Dario;
- Monfrini, Edoardo;
- Bonato, Sara;
- Mancinelli, Veronica;
- Cinnante, Claudia;
- Salani, Sabrina;
- Bordoni, Andreina;
- Ciscato, Patrizia;
- Fortunato, Francesco;
- Villa, Marianna;
- Di Fonzo, Alessio;
- Corti, Stefania;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Published in:
Annals of Neurology, 2021, v. 89, n. 4, p. 834, doi. 10.1002/ana.26021
By:
- Monfrini, Edoardo;
- Cogiamanian, Filippo;
- Salani, Sabrina;
- Straniero, Letizia;
- Fagiolari, Gigliola;
- Garbellini, Manuela;
- Carsana, Emma;
- Borellini, Linda;
- Biella, Fabio;
- Moggio, Maurizio;
- Bresolin, Nereo;
- Corti, Stefania;
- Duga, Stefano;
- Comi, Giacomo P.;
- Aureli, Massimo;
- Di Fonzo, Alessio
Publication type:
Article
Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice.
Published in:
Annals of Neurology, 2007, v. 62, n. 1, p. 81, doi. 10.1002/ana.21152
By:
- Locatelli, Federica;
- Corti, Stefania;
- Papadimitriou, Dimitra;
- Fortunato, Francesco;
- Del Bo, Roberto;
- Donadoni, Chiara;
- Nizzardo, Monica;
- Nardini, Martina;
- Salani, Sabrina;
- Ghezzi, Serena;
- Strazzer, Sandra;
- Bresolin, Nereo;
- Comi, Giacomo Pietro
Publication type:
Article
Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells.
Published in:
FASEB Journal, 2005, v. 19, n. 13, p. 1860, doi. 10.1096/fj.05-4170fje
By:
- Corti, Stefania;
- Locatelli, Federica;
- Papadimitriou, Dimitra;
- Donadoni, Chiara;
- Del Bo, Roberto;
- Fortunato, Francesco;
- Strazzer, Sandra;
- Salani, Sabrina;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 23, p. 3921, doi. 10.1093/hmg/ddz236
By:
- Bitetto, Giacomo;
- Ronchi, Dario;
- Bonato, Sara;
- Pittaro, Alessandra;
- Compagnoni, Giacomo Monzio;
- Bordoni, Andreina;
- Salani, Sabrina;
- Frattini, Emanuele;
- Lopez, Gianluca;
- Cribiu, Fulvia Milena;
- Corti, Stefania;
- Comi, Giacomo P;
- Bresolin, Nereo;
- Fonzo, Alessio Di
Publication type:
Article
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 19, p. 4266, doi. 10.1093/hmg/ddw258
By:
- Rizzo, Federica;
- Ronchi, Dario;
- Salani, Sabrina;
- Nizzardo, Monica;
- Fortunato, Francesco;
- Bordoni, Andreina;
- Stuppia, Giulia;
- Del Bo, Roberto;
- Piga, Daniela;
- Fato, Romana;
- Bresolin, Nereo;
- Comi, Giacomo P.;
- Corti, Stefania
Publication type:
Article
Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 342, doi. 10.1093/hmg/ddt425
By:
- Nizzardo, Monica;
- Simone, Chiara;
- Rizzo, Federica;
- Ruggieri, Margherita;
- Salani, Sabrina;
- Riboldi, Giulietta;
- Faravelli, Irene;
- Zanetta, Chiara;
- Bresolin, Nereo;
- Comi, Giacomo P.;
- Corti, Stefania
Publication type:
Article
Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy.
Published in:
Science Translational Medicine, 2012, v. 4, n. 165, p. 1, doi. 10.1126/scitranslmed.3004108
By:
- Corti, Stefania;
- Nizzardo, Monica;
- Simone, Chiara;
- Falcone, Marianna;
- Nardini, Martina;
- Ronchi, Dario;
- Donadoni, Chiara;
- Salani, Sabrina;
- Riboldi, Giulietta;
- Magri, Francesca;
- Menozzi, Giorgia;
- Bonaglia, Clara;
- Rizzo, Federica;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis.
Published in:
Cellular & Molecular Life Sciences, 2014, v. 71, n. 6, p. 999, doi. 10.1007/s00018-013-1480-4
By:
- Rizzo, Federica;
- Riboldi, Giulietta;
- Salani, Sabrina;
- Nizzardo, Monica;
- Simone, Chiara;
- Corti, Stefania;
- Hedlund, Eva
Publication type:
Article
Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.
Published in:
Scientific Reports, 2015, p. 11746, doi. 10.1038/srep11746
By:
- Nizzardo, Monica;
- Simone, Chiara;
- Dametti, Sara;
- Salani, Sabrina;
- Ulzi, Gianna;
- Pagliarani, Serena;
- Rizzo, Federica;
- Frattini, Emanuele;
- Pagani, Franco;
- Bresolin, Nereo;
- Comi, Giacomo;
- Corti, Stefania
Publication type:
Article
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Published in:
Cells (2073-4409), 2023, v. 12, n. 10, p. 1405, doi. 10.3390/cells12101405
By:
- Zanotti, Simona;
- Ripolone, Michela;
- Napoli, Laura;
- Velardo, Daniele;
- Salani, Sabrina;
- Ciscato, Patrizia;
- Priori, Silvia;
- Kukavica, Deni;
- Mazzanti, Andrea;
- Diamanti, Luca;
- Vegezzi, Elisa;
- Moggio, Maurizio;
- Corti, Stefania;
- Comi, Giacomo;
- Sciacco, Monica
Publication type:
Article
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
Published in:
Cell & Bioscience, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13578-022-00754-1
By:
- Kakouri, Andrea C.;
- Votsi, Christina;
- Oulas, Anastasis;
- Nicolaou, Paschalis;
- Aureli, Massimo;
- Lunghi, Giulia;
- Samarani, Maura;
- Compagnoni, Giacomo M.;
- Salani, Sabrina;
- Di Fonzo, Alessio;
- Christophides, Thalis;
- Tanteles, George A.;
- Zamba-Papanicolaou, Eleni;
- Pantzaris, Marios;
- Spyrou, George M.;
- Christodoulou, Kyproula
Publication type:
Article
Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.
Published in:
Therapeutic Advances in Neurological Disorders, 2019, p. N.PAG, doi. 10.1177/1756286419833478
By:
- Piga, Daniela;
- Salani, Sabrina;
- Magri, Francesca;
- Brusa, Roberta;
- Mauri, Eleonora;
- Comi, Giacomo P.;
- Bresolin, Nereo;
- Corti, Stefania
Publication type:
Article
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Published in:
Human Mutation, 2008, v. 29, n. 2, p. 258, doi. 10.1002/humu.20642
By:
- Guglieri, Michela;
- Magri, Francesca;
- D'Angelo, Maria Grazia;
- Prelle, Alessandro;
- Morandi, Lucia;
- Rodolico, Carmelo;
- Cagliani, Rachele;
- Mora, Marina;
- Fortunato, Francesco;
- Bordoni, Andreina;
- Del Bo, Roberto;
- Ghezzi, Serena;
- Pagliarani, Serena;
- Lucchiari, Sabrina;
- Salani, Sabrina;
- Zecca, Chiara;
- Lamperti, Costanza;
- Ronchi, Dario;
- Aguennouz, Mohammed;
- Ciscato, Patrizia
Publication type:
Article
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
Published in:
2023
By:
- Rimoldi, Martina;
- Magri, Francesca;
- Antognozzi, Sara;
- Ripolone, Michela;
- Salani, Sabrina;
- Piga, Daniela;
- Bertolasi, Letizia;
- Zanotti, Simona;
- Ciscato, Patrizia;
- Fortunato, Francesco;
- Moggio, Maurizio;
- Corti, Stefania;
- Comi, Giacomo Pietro;
- Ronchi, Dario
Publication type:
Case Study
Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 19, p. 3782, doi. 10.1093/hmg/ddq293
By:
- Corti, Stefania;
- Nizzardo, Monica;
- Nardini, Martina;
- Donadoni, Chiara;
- Salani, Sabrina;
- Simone, Chiara;
- Falcone, Marianna;
- Riboldi, Giulietta;
- Govoni, Alessandra;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 2, p. 167, doi. 10.1093/hmg/ddi446
By:
- Corti, Stefania;
- Locatelli, Federica;
- Papadimitriou, Dimitra;
- Donadoni, Chiara;
- Bo, Roberto Del;
- Crimi, Marco;
- Bordoni, Andreina;
- Fortunato, Francesco;
- Strazzer, Sandra;
- Menozzi, Giorgia;
- Salani, Sabrina;
- Bresolin, Nereo;
- Comi, Giacomo P.
Publication type:
Article
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.
Published in:
1998
By:
- Comi, Giacomo P.;
- Bordoni, Andreina;
- Salani, Sabrina;
- Franceschina, Liliana;
- Sciacco, Monica;
- Prelle, Alessandro;
- Fortunato, Francesco;
- Zeviani, Massimo;
- Napoli, Laura;
- Bresolin, Nereo;
- Moggio, Maurizio;
- Ausenda, Carlo D.;
- Taanman, Jan-Willem;
- Scarlato, Guglielmo;
- Comi, G P;
- Bordoni, A;
- Salani, S;
- Franceschina, L;
- Sciacco, M;
- Prelle, A
Publication type:
journal article

Found: 29

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons.

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.

Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy.

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin.

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1).

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms.

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies.

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A.

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

Neural stem cells LewisX + CXCR4 + modify disease progression in an amyotrophic lateral sclerosis model.

Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency.

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice.

Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)<sup>+</sup>/CXCR4<sup>+</sup> stem cells.

Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy.

Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis.

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies.

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.

Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis.

Transplanted ALDH<sup>hi</sup>SSC<sup>lo</sup> neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.