Works by Mercuri, Eugenio


Results: 194
    1

    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

    Published in:
    PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0325736
    By:
    • Muntoni, Francesco;
    • Signorovitch, James;
    • Goemans, Nathalie;
    • Manzur, Adnan Y.;
    • Done, Nicolae;
    • Sajeev, Gautam;
    • Li, Jiayang;
    • Akbarnejad, Hanane;
    • Sharma, Aarushi;
    • Ward, Susan J.;
    • Niks, Erik H.;
    • Servais, Laurant;
    • Mercuri, Eugenio;
    • Guglieri, Michela;
    • Straub, Volker;
    • de Groot, Imelda;
    • Ridout, Deborah;
    • McDonald, Craig
    Publication type:
    Article
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    A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 403, doi. 10.3390/jcm12020403
    By:
    • Chieffo, Daniela P. R.;
    • Moriconi, Federica;
    • Pane, Marika;
    • Lucibello, Simona;
    • Ferraroli, Elisabetta;
    • Norcia, Giulia;
    • Ricci, Martina;
    • Capasso, Anna;
    • Cicala, Gianpaolo;
    • Buchignani, Bianca;
    • Coratti, Giorgia;
    • Cutrona, Costanza;
    • Pelizzari, Monia;
    • Brogna, Claudia;
    • Hendriksen, Jos G. M.;
    • Muntoni, Francesco;
    • Mercuri, Eugenio
    Publication type:
    Article
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    A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868
    By:
    • D'Amico, Adele;
    • Fattori, Fabiana;
    • Nicita, Francesco;
    • Barresi, Sabina;
    • Tasca, Giorgio;
    • Verardo, Margherita;
    • Pizzi, Simone;
    • Moroni, Isabella;
    • De Mitri, Francesca;
    • Frongia, Annalia;
    • Pane, Marika;
    • Mercuri, Eugenio;
    • Tartaglia, Marco;
    • Bertini, Enrico
    Publication type:
    Article
    7

    Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00605
    By:
    • Passarelli, Chiara;
    • Selvatici, Rita;
    • Carrieri, Alberto;
    • Di Raimo, Francesca Romana;
    • Falzarano, Maria Sofia;
    • Fortunato, Fernanda;
    • Rossi, Rachele;
    • Straub, Volker;
    • Bushby, Katie;
    • Reza, Mojgan;
    • Zharaieva, Irina;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • Merlini, Luciano;
    • Sabatelli, Patrizia;
    • Borgiani, Paola;
    • Novelli, Giuseppe;
    • Messina, Sonia;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article
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    Cortical Visual Impairment in CDKL5 Deficiency Disorder.

    Published in:
    Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.805745
    By:
    • Quintiliani, Michela;
    • Ricci, Daniela;
    • Petrianni, Maria;
    • Leone, Simona;
    • Orazi, Lorenzo;
    • Amore, Filippo;
    • Gambardella, Maria Luigia;
    • Contaldo, Ilaria;
    • Veredice, Chiara;
    • Perulli, Marco;
    • Musto, Elisa;
    • Mercuri, Eugenio Maria;
    • Battaglia, Domenica Immacolata
    Publication type:
    Article
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    Performance of Upper Limb module for Duchenne muscular dystrophy.

    Published in:
    2020
    By:
    • Mayhew, Anna G;
    • Coratti, Giorgia;
    • Mazzone, Elena Stacy;
    • Klingels, Katrijn;
    • James, Meredith;
    • Pane, Marika;
    • Straub, Volker;
    • Goemans, Natalie;
    • Mercuri, Eugenio;
    • Ricotti, Valeria;
    • Muntoni, Francesco;
    • Ridout, Deborah;
    • Selby, Victoria;
    • Pul Working Group
    Publication type:
    journal article
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    Contactless: a new personalised telehealth model in chronic pediatric diseases and disability during the COVID-19 era.

    Published in:
    Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00975-z
    By:
    • Mercuri, Eugenio;
    • Zampino, Giuseppe;
    • Morsella, Alisha;
    • Pane, Marika;
    • Onesimo, Roberta;
    • Angioletti, Carmen;
    • Valentini, Piero;
    • Rendeli, Claudia;
    • Ruggiero, Antonio;
    • Nanni, Lorenzo;
    • Chiaretti, Antonio;
    • Vento, Giovanni;
    • Korn, David;
    • Meneschincheri, Emilio;
    • Sergi, Paolo;
    • Scambia, Giovanni;
    • Ricciardi, Walter;
    • Cambieri, Andrea;
    • De Belvis, Antonio Giulio
    Publication type:
    Article
    22

    Arrhythmic Risk Stratification and Sudden Cardiac Death Prevention in Duchenne Muscular Dystrophy: A Critical Appraisal.

    Published in:
    Reviews in Cardiovascular Medicine, 2025, v. 26, n. 3, p. 1, doi. 10.31083/RCM27089
    By:
    • D'Amario, Domenico;
    • Arcudi, Alessandra;
    • Narducci, Maria Lucia;
    • Novelli, Valeria;
    • Canonico, Francesco;
    • Parodi, Alessandro;
    • Dell'Era, Gabriele;
    • Di Francesco, Marco;
    • Laborante, Renzo;
    • Borovac, Josip Andelo;
    • Galli, Mattia;
    • Mercuri, Eugenio Maria;
    • Vergaro, Giuseppe;
    • Russo, Antonio Dello;
    • D'Amico, Anthea Tonia;
    • Bisignani, Antonio;
    • Adorisio, Rachele;
    • Pompilio, Giulio;
    • Patti, Giuseppe
    Publication type:
    Article
    23

    A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

    Published in:
    Neurological Sciences, 2021, v. 42, n. 11, p. 4759, doi. 10.1007/s10072-021-05480-z
    By:
    • De Rose, Domenico Umberto;
    • Gallini, Francesca;
    • Battaglia, Domenica Immacolata;
    • Tiberi, Eloisa;
    • Gaudino, Simona;
    • Contaldo, Ilaria;
    • Veredice, Chiara;
    • Romeo, Domenico Marco;
    • Massimi, Luca;
    • Asaro, Alessia;
    • Cereda, Cristina;
    • Vento, Giovanni;
    • Mercuri, Eugenio Maria
    Publication type:
    Article
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    Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.

    Published in:
    2019
    By:
    • Sansone, Valeria A;
    • Albamonte, Emilio;
    • Salmin, Francesca;
    • Casiraghi, Jacopo;
    • Pirola, Alice;
    • Bettinelli, Massimo;
    • Rao, Fabrizio;
    • Mancini, Luca;
    • Tovaglieri, Nicola;
    • Fedeli, Fausto;
    • Stoia, Paolo;
    • Heinen, Maurizio;
    • Cozzi, Valeria;
    • Carraro, Elena;
    • Lunetta, Christian;
    • Di Bari, Alessandra;
    • Mercuri, Eugenio;
    • the Italian EAP working group;
    • Italian EAP working group
    Publication type:
    journal article
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    Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint.

    Published in:
    Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-80177-9
    By:
    • Servais, Laurent;
    • Strijbos, Paul;
    • Poleur, Margaux;
    • Mirea, Andrada;
    • Butoianu, Nina;
    • Sansone, Valeria A.;
    • Vuillerot, Carole;
    • Schara-Schmidt, Ulrike;
    • Scoto, Mariacristina;
    • Seferian, Andreea M.;
    • Previtali, Stefano C.;
    • Tulinius, Már;
    • Nascimento, Andrés;
    • Furlong, Pat;
    • Singh, Teji;
    • Dreghici, Roxana Donisa;
    • Goemans, Nathalie;
    • Mercuri, Eugenio;
    • Straub, Volker;
    • Ormazabal, Maitea Guridi
    Publication type:
    Article
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    Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1499, doi. 10.1038/ejhg.2015.19
    By:
    • Cafiero, Concetta;
    • Marangi, Giuseppe;
    • Orteschi, Daniela;
    • Ali, Marwan;
    • Asaro, Alessia;
    • Ponzi, Emanuela;
    • Moncada, Alice;
    • Ricciardi, Stefania;
    • Murdolo, Marina;
    • Mancano, Giorgia;
    • Contaldo, Ilaria;
    • Leuzzi, Vincenzo;
    • Battaglia, Domenica;
    • Mercuri, Eugenio;
    • Slavotinek, Anne M;
    • Zollino, Marcella
    Publication type:
    Article
    30

    SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 1, p. 52, doi. 10.1038/ejhg.2009.116
    By:
    • Tiziano, Francesco Danilo;
    • Pinto, Anna Maria;
    • Fiori, Stefania;
    • Lomastro, Rosa;
    • Messina, Sonia;
    • Bruno, Claudio;
    • Pini, Antonella;
    • Pane, Marika;
    • D'Amico, Adele;
    • Ghezzo, Alessandro;
    • Bertini, Enrico;
    • Mercuri, Eugenio;
    • Neri, Giovanni;
    • Brahe, Christina
    Publication type:
    Article
    31
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    Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

    Published in:
    PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677
    By:
    • Pera, Maria Carmela;
    • Coratti, Giorgia;
    • Berti, Beatrice;
    • D'Amico, Adele;
    • Sframeli, Maria;
    • Albamonte, Emilio;
    • de Sanctis, Roberto;
    • Messina, Sonia;
    • Catteruccia, Michela;
    • Brigati, Giorgia;
    • Antonaci, Laura;
    • Lucibello, Simona;
    • Bruno, Claudio;
    • Sansone, Valeria A.;
    • Bertini, Enrico;
    • Tiziano, Danilo;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article
    33
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    Current Standards and Future Directions of Duchenne Muscular Dystrophy Respiratory Care: The PPMD Italy Meeting Report.

    Published in:
    Pediatric Pulmonology, 2025, v. 60, n. 5, p. 1, doi. 10.1002/ppul.71113
    By:
    • Racca, Fabrizio;
    • Finder, Jonathan D.;
    • Mercuri, Eugenio;
    • Vianello, Andrea;
    • Chatwin, Michelle;
    • Amaddeo, Alessandro;
    • Crescimanno, Grazia;
    • Trucco, Federica;
    • Sheehan, Daniel W.;
    • Barberis, Luigi;
    • Buccella, Filippo;
    • Wolff, Jodi;
    • Katz, Sherri L.;
    • Birnkrant, David J.;
    • Black, Jane;
    • De Angelis, Fernanda;
    • De Rose, Cristina;
    • Di Cicco, Maria Elisa;
    • Croci, Massimo;
    • Fabiano, Alessia
    Publication type:
    Article
    35

    Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.

    Published in:
    Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1781, doi. 10.1002/ppul.24814
    By:
    • Buonsenso, Danilo;
    • Berti, Beatrice;
    • Palermo, Concetta;
    • Leone, Daniela;
    • Ferrantini, Gloria;
    • De Sanctis, Roberto;
    • Onesimo, Roberta;
    • Curatola, Antonietta;
    • Fanelli, Lavinia;
    • Forcina, Nicola;
    • Norcia, Giulia;
    • Carnicella, Sara;
    • Lucibello, Simona;
    • Mercuri, Eugenio;
    • Pane, Marika
    Publication type:
    Article
    36

    External hydrocephalus in discordant birth weight twins: a case report.

    Published in:
    Journal of Maternal-Fetal & Neonatal Medicine, 2011, v. 24, n. 2, p. 337, doi. 10.3109/14767058.2010.497566
    By:
    • Gallini, Francesca;
    • Baranello, Giovanni;
    • Serrao, Francesca;
    • Alfieri, Paolo;
    • Cota, Francesco;
    • Maggio, Luca;
    • Tamburrini, Gianpiero;
    • Romagnoli, Costantino;
    • Mercuri, Eugenio
    Publication type:
    Article
    37

    The Neuroscience Behind Writing: Handwriting vs. Typing—Who Wins the Battle?

    Published in:
    Life (2075-1729), 2025, v. 15, n. 3, p. 345, doi. 10.3390/life15030345
    By:
    • Marano, Giuseppe;
    • Kotzalidis, Georgios D.;
    • Lisci, Francesco Maria;
    • Anesini, Maria Benedetta;
    • Rossi, Sara;
    • Barbonetti, Sara;
    • Cangini, Andrea;
    • Ronsisvalle, Alice;
    • Artuso, Laura;
    • Falsini, Cecilia;
    • Caso, Romina;
    • Mandracchia, Giuseppe;
    • Brisi, Caterina;
    • Traversi, Gianandrea;
    • Mazza, Osvaldo;
    • Pola, Roberto;
    • Sani, Gabriele;
    • Mercuri, Eugenio Maria;
    • Gaetani, Eleonora;
    • Mazza, Marianna
    Publication type:
    Article
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    Sleep Disorders in Low-Risk Preterm Infants and Toddlers.

    Published in:
    Journal of Personalized Medicine, 2023, v. 13, n. 7, p. 1091, doi. 10.3390/jpm13071091
    By:
    • Romeo, Domenico M.;
    • Arpaia, Chiara;
    • Lala, Maria Rosaria;
    • Cordaro, Giorgia;
    • Gallini, Francesca;
    • Vento, Giovanni;
    • Mercuri, Eugenio;
    • Chiaretti, Antonio
    Publication type:
    Article
    40
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    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI.

    Published in:
    Journal of Cachexia, Sarcopenia & Muscle, 2025, v. 16, n. 3, p. 1, doi. 10.1002/jcsm.13815
    By:
    • Verdu‐Diaz, Jose;
    • Bolano‐Díaz, Carla;
    • Gonzalez‐Chamorro, Alejandro;
    • Fitzsimmons, Sam;
    • Warman‐Chardon, Jodi;
    • Kocak, Goknur Selen;
    • Mucida‐Alvim, Debora;
    • Smith, Ian C.;
    • Vissing, John;
    • Poulsen, Nanna Scharff;
    • Luo, Sushan;
    • Domínguez‐González, Cristina;
    • Bermejo‐Guerrero, Laura;
    • Gomez‐Andres, David;
    • Sotoca, Javier;
    • Pichiecchio, Anna;
    • Nicolosi, Silvia;
    • Monforte, Mauro;
    • Brogna, Claudia;
    • Mercuri, Eugenio
    Publication type:
    Article
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    Assessing floppy infants: a new module.

    Published in:
    European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2771, doi. 10.1007/s00431-022-04476-x
    By:
    • Cutrona, Costanza;
    • Pede, Elisa;
    • De Sanctis, Roberto;
    • Coratti, Giorgia;
    • Tiberi, Eloisa;
    • Luciano, Rita;
    • Pera, Maria Carmela;
    • Velli, Chiara;
    • Capasso, Anna;
    • Vento, Giovanni;
    • Romeo, Domenico M.;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article
    46

    Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.

    Published in:
    Drugs in R&D, 2025, v. 25, n. 2, p. 99, doi. 10.1007/s40268-025-00512-x
    By:
    • Bello, Luca;
    • Riguzzi, Pietro;
    • Albamonte, Emilio;
    • Astrea, Guja;
    • Battini, Roberta;
    • Barp, Andrea;
    • Berardinelli, Angela L.;
    • Bertini, Enrico S.;
    • Brolatti, Noemi;
    • Bruno, Claudio;
    • Corti, Stefania;
    • D'Amico, Adele;
    • D'Angelo, Maria Grazia;
    • Dallavalle, Gianfranco;
    • Liguori, Rocco;
    • Maggi, Lorenzo;
    • Magri, Francesca;
    • Mancuso, Michelangelo;
    • Masson, Riccardo;
    • Mercuri, Eugenio
    Publication type:
    Article
    47

    Visual Function in Children with GNAO1-Related Encephalopathy.

    Published in:
    Genes, 2023, v. 14, n. 3, p. 544, doi. 10.3390/genes14030544
    By:
    • Gambardella, Maria Luigia;
    • Pede, Elisa;
    • Orazi, Lorenzo;
    • Leone, Simona;
    • Quintiliani, Michela;
    • Amorelli, Giulia Maria;
    • Petrianni, Maria;
    • Galanti, Marta;
    • Amore, Filippo;
    • Musto, Elisa;
    • Perulli, Marco;
    • Contaldo, Ilaria;
    • Veredice, Chiara;
    • Mercuri, Eugenio Maria;
    • Battaglia, Domenica Immacolata;
    • Ricci, Daniela
    Publication type:
    Article
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    Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

    Published in:
    Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
    By:
    • Giugliano, Teresa;
    • Savarese, Marco;
    • Garofalo, Arcomaria;
    • Picillo, Esther;
    • Fiorillo, Chiara;
    • D'Amico, Adele;
    • Maggi, Lorenzo;
    • Ruggiero, Lucia;
    • Vercelli, Liliana;
    • Magri, Francesca;
    • Fattori, Fabiana;
    • Torella, Annalaura;
    • Ergoli, Manuela;
    • Rubegni, Anna;
    • Fanin, Marina;
    • Musumeci, Olimpia;
    • Bleecker, Jan De;
    • Peverelli, Lorenzo;
    • Moggio, Maurizio;
    • Mercuri, Eugenio
    Publication type:
    Article