Inborn errors of creatine metabolism and epilepsy
Leuzzi, Vincenzo, Mastrangelo, Mario, Battini, Roberta, Cioni, Giovanni
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Published in Epilepsia (Copenhagen) (01.02.2013)
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DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review
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Published in International journal of molecular sciences (23.05.2023)
Published in International journal of molecular sciences (23.05.2023)
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
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Published in PloS one (25.06.2019)
Published in PloS one (25.06.2019)
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Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae
Caron-Godon, Chenelle A, Della Vecchia, Stefania, Romano, Alessandro, Doccini, Stefano, Dal Canto, Flavio, Pasquariello, Rosa, Rubegni, Anna, Battini, Roberta, Santorelli, Filippo Maria, Glerum, D Moira, Nesti, Claudia
Published in International journal of molecular sciences (01.12.2023)
Published in International journal of molecular sciences (01.12.2023)
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Trehalose Treatment in Zebrafish Model of Lafora Disease
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Published in International journal of molecular sciences (20.06.2022)
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Nuovo, Sara, Micalizzi, Alessia, Romaniello, Romina, Arrigoni, Filippo, Ginevrino, Monia, Casella, Antonella, Serpieri, Valentina, D'Arrigo, Stefano, Briguglio, Marilena, Salerno, Grazia Gabriella, Rossato, Sara, Sartori, Stefano, Leuzzi, Vincenzo, Battini, Roberta, Ben-Zeev, Bruria, Graziano, Claudio, Mirabelli Badenier, Marisol, Brankovic, Vesna, Nardocci, Nardo, Spiegel, Ronen, Petković Ramadža, Danijela, Vento, Giovanni, Marti, Itxaso, Simonati, Alessandro, Dipresa, Savina, Freri, Elena, Mazza, Tommaso, Bassi, Maria Teresa, Bosco, Luca, Travaglini, Lorena, Zanni, Ginevra, Bertini, Enrico Silvio, Vanacore, Nicola, Borgatti, Renato, Valente, Enza Maria
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Mazzone, Elena Stacy, Mayhew, Anna, Fanelli, Lavinia, Messina, Sonia, D'Amico, Adele, Catteruccia, Michela, Scutifero, Marianna, Frosini, Silvia, Lanzillotta, Valentina, Colia, Giulia, Cavallaro, Filippo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Petillo, Roberta, Barp, Andrea, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Zanin, Riccardo, Vita, Gian Luca, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Berardinelli, Angela, Battini, Roberta, Sansone, Valeria, Albamonte, Emilio, Baranello, Giovanni, Bertini, Enrico, Politano, Luisa, Sormani, Maria Pia, Mercuri, Eugenio
Published in PloS one (20.06.2018)
Published in PloS one (20.06.2018)
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Neural substrates of neuropsychological profiles in dystrophynopathies: A pilot study of diffusion tractography imaging
Biagi, Laura, Lenzi, Sara, Cipriano, Emilio, Fiori, Simona, Bosco, Paolo, Cristofani, Paola, Astrea, Guia, Pini, Antonella, Cioni, Giovanni, Mercuri, Eugenio, Tosetti, Michela, Battini, Roberta
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Published in PloS one (03.05.2021)
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Eyre, Janet A., Smith, Martin, Dabydeen, Lyvia, Clowry, Gavin J., Petacchi, Eliza, Battini, Roberta, Guzzetta, Andrea, Cioni, Giovanni
Published in Annals of neurology (01.11.2007)
Published in Annals of neurology (01.11.2007)
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Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy
Brogna, Claudia, Cristiano, Lara, Tartaglione, Tommaso, Verdolotti, Tommaso, Fanelli, Lavinia, Ficociello, Luana, Tasca, Giorgio, Battini, Roberta, Coratti, Giorgia, Forcina, Nicola, De Santis, Roberto, Norcia, Giulia, Carnicella, Sara, Colosimo, Cesare, Carlier, Pierre, Pane, Marika, Mercuri, Eugenio
Published in PloS one (20.06.2018)
Published in PloS one (20.06.2018)
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Broadening the spectrum phenotype of TBCE-related neuron neurodegeneration
Battini, Roberta, Milone, Roberta, Aiello, Chiara, Astrea, Guja, Sferra, Antonella, Pasquariello, Rosa, Cioni, Giovanni, Bertini, Enrico
Published in Brain & development (Tokyo. 1979) (01.10.2021)
Published in Brain & development (Tokyo. 1979) (01.10.2021)
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Behavioural and Emotional Changes during COVID-19 Lockdown in an Italian Paediatric Population with Neurologic and Psychiatric Disorders
Conti, Eugenia, Sgandurra, Giuseppina, De Nicola, Giacomo, Biagioni, Tommaso, Boldrini, Silvia, Bonaventura, Eleonora, Buchignani, Bianca, Della Vecchia, Stefania, Falcone, Francesca, Fedi, Caterina, Gazzillo, Marisa, Marinella, Gemma, Mazzullo, Cristina, Micomonaco, Jessica, Pantalone, Gloria, Salvati, Andrea, Sesso, Gianluca, Simonelli, Valerio, Tolomei, Greta, Troiano, Irene, Cioni, Giovanni, Masi, Gabriele, Muratori, Filippo, Milone, Annarita, Battini, Roberta
Published in Brain sciences (27.11.2020)
Published in Brain sciences (27.11.2020)
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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
Vecchia, Stefania Della, Tessa, Alessandra, Dosi, Claudia, Baldacci, Jacopo, Pasquariello, Rosa, Antenora, Antonella, Astrea, Guja, Bassi, Maria Teresa, Battini, Roberta, Casali, Carlo, Cioffi, Ettore, Conti, Greta, De Michele, Giovanna, Ferrari, Anna Rita, Filla, Alessandro, Fiorillo, Chiara, Fusco, Carlo, Gallone, Salvatore, Germiniasi, Chiara, Guerrini, Renzo, Haggiag, Shalom, Lopergolo, Diego, Martinuzzi, Andrea, Melani, Federico, Mignarri, Andrea, Panzeri, Elena, Pini, Antonella, Pinto, Anna Maria, Pochiero, Francesca, Primiano, Guido, Procopio, Elena, Renieri, Alessandra, Romaniello, Romina, Sancricca, Cristina, Servidei, Serenella, Spagnoli, Carlotta, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo Maria
Published in Journal of neurology (01.01.2022)
Published in Journal of neurology (01.01.2022)
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Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
Vicari, Stefano, Piccini, Giorgia, Mercuri, Eugenio, Battini, Roberta, Chieffo, Daniela, Bulgheroni, Sara, Pecini, Chiara, Lucibello, Simona, Lenzi, Sara, Moriconi, Federica, Pane, Marika, D'Amico, Adele, Astrea, Guja, Baranello, Giovanni, Riva, Daria, Cioni, Giovanni, Alfieri, Paolo
Published in PloS one (16.01.2018)
Published in PloS one (16.01.2018)
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Clinical, molecular and glycophenotype insights in SLC39A8-CDG
Bonaventura, Eleonora, Barone, Rita, Sturiale, Luisa, Pasquariello, Rosa, Alessandrì, Maria Grazia, Pinto, Anna Maria, Renieri, Alessandra, Panteghini, Celeste, Garavaglia, Barbara, Cioni, Giovanni, Battini, Roberta
Published in Orphanet journal of rare diseases (10.07.2021)
Published in Orphanet journal of rare diseases (10.07.2021)
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Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy
Mercuri, Eugenio, Coratti, Giorgia, Messina, Sonia, Ricotti, Valeria, Baranello, Giovanni, D'Amico, Adele, Pera, Maria Carmela, Albamonte, Emilio, Sivo, Serena, Mazzone, Elena Stacy, Arnoldi, Maria Teresa, Fanelli, Lavinia, De Sanctis, Roberto, Romeo, Domenico M, Vita, Gian Luca, Battini, Roberta, Bertini, Enrico, Muntoni, Francesco, Pane, Marika
Published in PloS one (05.08.2016)
Published in PloS one (05.08.2016)
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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
Coratti, Giorgia, Pane, Marika, Brogna, Claudia, Ricotti, Valeria, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Vita, Gianluca, Berardinelli, Angela, Mazzone, Elena, Magri, Francesca, Ricci, Federica, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Previtali, Stefano C, Politano, Luisa, Comi, Giacomo P, Sansone, Valeria A, Donati, Alice, Hogrel, Jean Yves, Straub, Volker, De Lucia, Silvana, Niks, Erik, Servais, Laurent, De Groot, Imelda, Chesshyre, Mary, Bertini, Enrico, Goemans, Nathalie, Muntoni, Francesco, Mercuri, Eugenio
Published in PloS one (25.06.2021)
Published in PloS one (25.06.2021)
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NGS in Hereditary Ataxia: When Rare Becomes Frequent
Galatolo, Daniele, De Michele, Giovanna, Silvestri, Gabriella, Leuzzi, Vincenzo, Casali, Carlo, Musumeci, Olimpia, Antenora, Antonella, Astrea, Guja, Barghigiani, Melissa, Battini, Roberta, Battisti, Carla, Caputi, Caterina, Cioffi, Ettore, De Michele, Giuseppe, Dotti, Maria Teresa, Fico, Tommasina, Fiorillo, Chiara, Galosi, Serena, Lieto, Maria, Malandrini, Alessandro, Melone, Marina A. B., Mignarri, Andrea, Natale, Gemma, Pegoraro, Elena, Petrucci, Antonio, Ricca, Ivana, Riso, Vittorio, Rossi, Salvatore, Rubegni, Anna, Scarlatti, Arianna, Tinelli, Francesca, Trovato, Rosanna, Tedeschi, Gioacchino, Tessa, Alessandra, Filla, Alessandro, Santorelli, Filippo Maria
Published in International journal of molecular sciences (06.08.2021)
Published in International journal of molecular sciences (06.08.2021)
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