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Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5673, doi. 10.3390/ijms22115673
By:
- Malacarne, Claudia;
- Galbiati, Mariarita;
- Giagnorio, Eleonora;
- Cavalcante, Paola;
- Salerno, Franco;
- Andreetta, Francesca;
- Cagnoli, Cinza;
- Taiana, Michela;
- Nizzardo, Monica;
- Corti, Stefania;
- Pensato, Viviana;
- Venerando, Anna;
- Gellera, Cinzia;
- Fenu, Silvia;
- Pareyson, Davide;
- Masson, Riccardo;
- Maggi, Lorenzo;
- Dalla Bella, Eleonora;
- Lauria, Giuseppe;
- Mantegazza, Renato
Publication type:
Article
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
Published in:
Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19828881
By:
- Milone, Roberta;
- Masson, Riccardo;
- Di Cosmo, Caterina;
- Tonacchera, Massimo;
- Bertini, Veronica;
- Guzzetta, Andrea;
- Battini, Roberta
Publication type:
Article
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
Published in:
Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19828881
By:
- Milone, Roberta;
- Masson, Riccardo;
- Di Cosmo, Caterina;
- Tonacchera, Massimo;
- Bertini, Veronica;
- Guzzetta, Andrea;
- Battini, Roberta
Publication type:
Article
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1562
By:
- Cinquina, Valeria;
- Ciaccio, Claudia;
- Venturini, Marina;
- Masson, Riccardo;
- Ritelli, Marco;
- Colombi, Marina
Publication type:
Article
The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1308296
By:
- Dosi, Claudia;
- Masson, Riccardo
Publication type:
Article
The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1308296
By:
- Dosi, Claudia;
- Masson, Riccardo
Publication type:
Article
Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2800, doi. 10.1002/ajmg.a.61821
By:
- Ciaccio, Claudia;
- Cellini, Elena;
- Guerrini, Renzo;
- Pantaleoni, Chiara;
- Masson, Riccardo
Publication type:
Article
Identification of a cytokine profile in serum and cerebrospinal fluid of pediatric and adult spinal muscular atrophy patients and its modulation upon nusinersen treatment.
Published in:
Frontiers in Cellular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fncel.2022.982760
By:
- Bonanno, Silvia;
- Cavalcante, Paola;
- Salvi, Erika;
- Giagnorio, Eleonora;
- Malacarne, Claudia;
- Cattaneo, Marco;
- Andreetta, Francesca;
- Venerando, Anna;
- Pensato, Viviana;
- Gellera, Cinzia;
- Zanin, Riccardo;
- Arnoldi, Maria Teresa;
- Dosi, Claudia;
- Mantegazza, Renato;
- Masson, Riccardo;
- Maggi, Lorenzo;
- Marcuzzo, Stefania
Publication type:
Article
Evaluation of body composition as a potential biomarker in spinal muscular atrophy.
Published in:
2020
By:
- Baranello, Giovanni;
- De Amicis, Ramona;
- Arnoldi, Maria Teresa;
- Zanin, Riccardo;
- Mastella, Chiara;
- Masson, Riccardo;
- Leone, Alessandro;
- Alberti, Katia;
- Foppiani, Andrea;
- Battezzati, Alberto;
- Bertoli, Simona
Publication type:
journal article
Efficacy of oral pharmacological treatments in dyskinetic cerebral palsy: a systematic review.
Published in:
2017
By:
- Masson, Riccardo;
- Pagliano, Emanuela;
- Baranello, Giovanni
Publication type:
journal article
Reply to Chacko : Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy.
Published in:
2020
By:
- LoMauro, Antonella;
- Mastella, Chiara;
- Alberti, Katia;
- Masson, Riccardo;
- Aliverti, Andrea;
- Baranello, Giovanni
Publication type:
Letter
Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy.
Published in:
2019
By:
- LoMauro, Antonella;
- Mastella, Chiara;
- Alberti, Katia;
- Masson, Riccardo;
- Aliverti, Andrea;
- Baranello, Giovanni
Publication type:
Letter
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.
Published in:
2022
By:
- Cances, Claude;
- Vlodavets, Dmitry;
- Comi, Giacomo Pietro;
- Masson, Riccardo;
- Mazurkiewicz-Bełdzińska, Maria;
- Saito, Kayoko;
- Zanoteli, Edmar;
- Dodman, Angela;
- El-Khairi, Muna;
- Gorni, Ksenija;
- Gravestock, Isaac;
- Hoffart, Janine;
- Scalco, Renata S.;
- Darras, Basil T.;
- the ANCHOVY Working Group;
- Alberti, Katia;
- Baranello, Giovanni;
- Barisic, Nina;
- Brolatti, Noemi;
- Bruno, Claudio
Publication type:
journal article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
Published in:
Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
By:
- Brogna, Claudia;
- Pane, Marika;
- Coratti, Giorgia;
- D'Amico, Adele;
- Pegoraro, Elena;
- Bello, Luca;
- Sansone, Valeria Ada Maria;
- Albamonte, Emilio;
- Messina, Sonia;
- Pini, Antonella;
- D'Angelo, Maria Grazia;
- Bruno, Claudio;
- Mongini, Tiziana;
- Ricci, Federica Silvia;
- Berardinelli, Angela;
- Battini, Roberta;
- Masson, Riccardo;
- Bertini, Enrico Silvio;
- Politano, Luisa;
- Mercuri, Eugenio
Publication type:
Article
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 786, doi. 10.1002/acn3.51046
By:
- Bello, Luca;
- D'Angelo, Grazia;
- Villa, Matteo;
- Fusto, Aurora;
- Vianello, Sara;
- Merlo, Beatrice;
- Sabbatini, Daniele;
- Barp, Andrea;
- Gandossini, Sandra;
- Magri, Francesca;
- Comi, Giacomo P.;
- Pedemonte, Marina;
- Tacchetti, Paola;
- Lanzillotta, Valentina;
- Trucco, Federica;
- D'Amico, Adele;
- Bertini, Enrico;
- Astrea, Guja;
- Politano, Luisa;
- Masson, Riccardo
Publication type:
Article
The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients.
Published in:
Acta Myologica, 2024, v. 43, n. 3, p. 114, doi. 10.36185/2532-1900-398
By:
- Bello, Luca;
- Sansone, Valeria;
- Masson, Riccardo;
- Bruno, Claudio
Publication type:
Article
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Published in:
Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
By:
- Ricci, Martina;
- Cicala, Gianpaolo;
- Capasso, Anna;
- Coratti, Giorgia;
- Fiori, Stefania;
- Cutrona, Costanza;
- D'Amico, Adele;
- Sansone, Valeria A.;
- Bruno, Claudio;
- Messina, Sonia;
- Mongini, Tiziana;
- Coccia, Michela;
- Siciliano, Gabriele;
- Pegoraro, Elena;
- Masson, Riccardo;
- Filosto, Massimiliano;
- Comi, Giacomo P.;
- Corti, Stefania;
- Ronchi, Dario;
- Maggi, Lorenzo
Publication type:
Article
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 5, p. 527, doi. 10.1111/dmcn.14798
By:
- Masson, Riccardo;
- Brusa, Chiara;
- Scoto, Mariacristina;
- Baranello, Giovanni
Publication type:
Article
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Published in:
Journal of Neurology, 2022, v. 269, n. 9, p. 4884, doi. 10.1007/s00415-022-11133-8
By:
- Sabbatini, Daniele;
- Fusto, Aurora;
- Vianello, Sara;
- Villa, Matteo;
- Janik, Joanna;
- D'Angelo, Grazia;
- Diella, Eleonora;
- Magri, Francesca;
- Comi, Giacomo P.;
- Panicucci, Chiara;
- Bruno, Claudio;
- D'Amico, Adele;
- Bertini, Enrico;
- Astrea, Guja;
- Battini, Roberta;
- Politano, Luisa;
- Masson, Riccardo;
- Baranello, Giovanni;
- Previtali, Stefano C.;
- Messina, Sonia
Publication type:
Article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
By:
- Maggi, Lorenzo;
- Brugnoni, Raffaella;
- Canioni, Eleonora;
- Tonin, Paola;
- Saletti, Veronica;
- Sola, Patrizia;
- Piccinelli, Stefano Cotti;
- Colleoni, Lara;
- Ferrigno, Paola;
- Pini, Antonella;
- Masson, Riccardo;
- Manganelli, Fiore;
- Lietti, Daniele;
- Vercelli, Liliana;
- Ricci, Giulia;
- Bruno, Claudio;
- Tasca, Giorgio;
- Pizzuti, Antonio;
- Padovani, Alessandro;
- Fusco, Carlo
Publication type:
Article
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment.
Published in:
European Journal of Neurology, 2023, v. 30, n. 7, p. 1945, doi. 10.1111/ene.15499
By:
- Mercuri, Eugenio;
- Baranello, Giovanni;
- Boespflug‐Tanguy, Odile;
- De Waele, Liesbeth;
- Goemans, Nathalie;
- Kirschner, Janbernd;
- Masson, Riccardo;
- Mazzone, Elena S.;
- Pechmann, Astrid;
- Pera, Maria Carmela;
- Vuillerot, Carole;
- Bader‐Weder, Silvia;
- Gerber, Marianne;
- Gorni, Ksenija;
- Hoffart, Janine;
- Kletzl, Heidemarie;
- Martin, Carmen;
- McIver, Tammy;
- Scalco, Renata S.;
- Yeung, Wai Yin
Publication type:
Article
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.
Published in:
Biomedicines, 2020, v. 8, n. 2, p. 21, doi. 10.3390/biomedicines8020021
By:
- Bonanno, Silvia;
- Marcuzzo, Stefania;
- Malacarne, Claudia;
- Giagnorio, Eleonora;
- Masson, Riccardo;
- Zanin, Riccardo;
- Arnoldi, Maria Teresa;
- Andreetta, Francesca;
- Simoncini, Ornella;
- Venerando, Anna;
- Gellera, Cinzia;
- Pantaleoni, Chiara;
- Mantegazza, Renato;
- Bernasconi, Pia;
- Baranello, Giovanni;
- Maggi, Lorenzo
Publication type:
Article
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.
Published in:
PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
By:
- Coratti, Giorgia;
- Lenkowicz, Jacopo;
- Norcia, Giulia;
- Lucibello, Simona;
- Ferraroli, Elisabetta;
- d'Amico, Adele;
- Bello, Luca;
- Pegoraro, Elena;
- Messina, Sonia;
- Ricci, Federica;
- Mongini, Tiziana;
- Berardinelli, Angela;
- Masson, Riccardo;
- Previtali, Stefano C.;
- D'angelo, Grazia;
- Magri, Francesca;
- Comi, Giacomo P.;
- Politano, Luisa;
- Passamano, Luigia;
- Vita, Gianluca
Publication type:
Article

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