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Mendell, Jerry R, Muntoni, Francesco, McDonald, Craig M, Mercuri, Eugenio M, Ciafaloni, Emma, Komaki, Hirofumi, Leon-Astudillo, Carmen, Nascimento, Andrés, Proud, Crystal, Schara-Schmidt, Ulrike, Veerapandiyan, Aravindhan, Zaidman, Craig M, Guridi, Maitea, Murphy, Alexander P, Reid, Carol, Wandel, Christoph, Asher, Damon R, Darton, Eddie, Mason, Stefanie, Potter, Rachael A, Singh, Teji, Zhang, Wenfei, Fontoura, Paulo, Elkins, Jacob S, Rodino-Klapac, Louise R
Published in Nature medicine (09.10.2024)
Published in Nature medicine (09.10.2024)
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Early neurodevelopmental characterization in children with cobalamin C/defect
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Published in Journal of inherited metabolic disease (01.03.2020)
Published in Journal of inherited metabolic disease (01.03.2020)
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Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen
Salerno, Annalisa, Picconi, Enzo, Genovese, Orazio, Piastra, Marco, Pulitanò, Silvia M., Tosi, Federica, Mancino, Aldo, Pane, Marika, De Sanctis, Roberto, Carlini, Debora, Mercuri, Eugenio M., Conti, Giorgio
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Published in Pediatric anesthesia (01.04.2023)
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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis
Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Orteschi, Daniela, Nobile, Veronica, Pucci, Cecilia, Musto, Elisa, Pane, Marika, Mercuri, Eugenio M, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro, Zollino, Marcella
Published in Genes (27.11.2021)
Published in Genes (27.11.2021)
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Value of structured reporting in neuromuscular disorders
Alessandrino, Francesco, Cristiano, Lara, Cinnante, Claudia Maria, Tartaglione, Tommaso, Gerevini, Simonetta, Verdolotti, Tommaso, Colafati, Giovanna Stefania, Ghione, Emanuele, Vitale, Raimondo, Peverelli, Lorenzo, Brogna, Claudia, Berardinelli, Angela, Moggio, Maurizio, Mercuri, Eugenio M., Pichiecchio, Anna
Published in Radiologia medica (01.07.2019)
Published in Radiologia medica (01.07.2019)
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Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy
Trucco, Federica, Lizio, Andrea, Roma, Elisabetta, di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Casiraghi, Jacopo, Pozzi, Susanna, Becchiati, Stefano, Antonaci, Laura, Salvalaggio, Anna, Catteruccia, Michela, Tosi, Michele, Marinella, Gemma, Danti, Federica R, Bruschi, Fabio, Veneruso, Marco, Parravicini, Stefano, Fiorillo, Chiara, Berardinelli, Angela, Pini, Antonella, Moroni, Isabella, Astrea, Guja, Battini, Roberta, D'Amico, Adele, Ricci, Federica, Pane, Marika, Mercuri, Eugenio M, Johnson, Nicholas E, Sansone, Valeria A
Published in Journal of clinical medicine (14.09.2024)
Published in Journal of clinical medicine (14.09.2024)
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Muscular dystrophies
Mercuri, Eugenio, MD, Muntoni, Francesco, Prof
Published in The Lancet (British edition) (09.03.2013)
Published in The Lancet (British edition) (09.03.2013)
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Managing emergency and urgent care in spinal muscular atrophy
DE IACO, Fabio, FONTANA, Alberto, MERCURI, Eugenio M., PALLARA, Anita, PANE, Marika, ROMA, Elisabetta, SANSONE, Valeria, ZAMPOGNA, Stefania
Published in Italian Journal of Emergency Medicine (01.04.2023)
Published in Italian Journal of Emergency Medicine (01.04.2023)
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Movement Disorders - Childhood Rating Scale 4-18 revised in children with dyskinetic cerebral palsy
Battini, Roberta, Sgandurra, Giuseppina, Menici, Valentina, Scalise, Roberta, Olivieri, Ilaria, Di Pietro, Roberta, Lucibello, Simona, Giannini, Maria T, Cioni, Giovanni
Published in European journal of physical and rehabilitation medicine (01.06.2020)
Published in European journal of physical and rehabilitation medicine (01.06.2020)
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Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy
Straub, Volker, MD, Balabanov, Pavel, PhD, Bushby, Kate, MD, Ensini, Monica, PhD, Goemans, Nathalie, MD, De Luca, Annamaria, PhD, Pereda, Alejandra, Hemmings, Robert, Campion, Giles, MD, Kaye, Edward, MD, Arechavala-Gomeza, Virginia, PhD, Goyenvalle, Aurelie, PhD, Niks, Erik, MD, Veldhuizen, Olav, Furlong, Pat, Stoyanova-Beninska, Violeta, MD, Wood, Matthew J, PhD, Johnson, Alex, Mercuri, Eugenio, MD, Muntoni, Francesco, MD, Sepodes, Bruno, PhD, Haas, Manuel, PharmD, Vroom, Elizabeth, DMD, Aartsma-Rus, Annemieke, Dr
Published in Lancet neurology (01.07.2016)
Published in Lancet neurology (01.07.2016)
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Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation
Pane, Marika, MD, Lombardo, Maria Elena, MD, Alfieri, Paolo, MD, D'Amico, Adele, MD, Bianco, Flaviana, MD, Vasco, Gessica, MD, Piccini, Giorgia, Dpsych, Mallardi, Maria, Dpsych, Romeo, Domenico M., MD, Ricotti, Valeria, MD, Ferlini, Alessandra, MD, Gualandi, Francesca, MD, Vicari, Stefano, MD, Bertini, Enrico, MD, Berardinelli, Angela, MD, Mercuri, Eugenio, MD
Published in The Journal of pediatrics (01.10.2012)
Published in The Journal of pediatrics (01.10.2012)
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A Diagnostic Dilemma in a Family With Cystinuria Type B Resolved by Muscle Magnetic Resonance
Astrea, Guja, MD, PhD, Munteanu, Iulia, MD, Cassandrini, Denise, PhD, Lillis, Suzanne, MD, Trovato, Rosanna, PhD, Pegoraro, Elena, MD, Cioni, Giovanni, MD, Mercuri, Eugenio, MD, Muntoni, Francesco, MD, Battini, Roberta, MD, PhD
Published in Pediatric neurology (01.05.2015)
Published in Pediatric neurology (01.05.2015)
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Neurologic Assessment Tool for Screening Preterm Infants at Term Age
Romeo, Domenico M., MD, Ricci, Daniela, MD, van Haastert, Ingrid C., MD, de Vries, Linda S., MD, Haataja, Leena, MD, Brogna, Claudia, MD, Gallini, Francesca, MD, Romagnoli, Costantino, MD, Cowan, Frances M., MD, Mercuri, Eugenio, MD
Published in The Journal of pediatrics (01.12.2012)
Published in The Journal of pediatrics (01.12.2012)
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Assessing Joint Hypermobility in Preschool-Aged Children
Romeo, Domenico M., MD, PhD, Lucibello, Simona, MD, Musto, Elisa, MD, Brogna, Claudia, MD, Ferrantini, Gloria, MD, Velli, Chiara, MD, Cota, Francesco, MD, Ricci, Daniela, MD, PhD, Mercuri, Eugenio, PhD, MD
Published in The Journal of pediatrics (01.09.2016)
Published in The Journal of pediatrics (01.09.2016)
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Cortical Visual Function in Preterm Infants in the First Year
Ricci, Daniela, MD, Cesarini, Laura, MD, Gallini, Francesca, MD, Serrao, Francesca, MD, Leone, Daniela, MD, Baranello, Giovanni, MD, Cota, Francesco, MD, Pane, Marika, MD, Brogna, Claudia, MD, De Rose, Paola, MD, Vasco, Gessica, MD, Alfieri, Paolo, MD, Staccioli, Susanna, MD, Romeo, Domenico M., MD, Tinelli, Francesca, MD, Molle, Fernando, MD, Lepore, Domenico, MD, Baldascino, Antonio, MD, Ramenghi, Luca A., MD, Torrioli, Maria Giulia, MD, Romagnoli, Costantino, MD, Cowan, Frances, MD, PhD, Atkinson, Janette, PhD, Cioni, Giovanni, MD, Mercuri, Eugenio, MD
Published in The Journal of pediatrics (01.04.2010)
Published in The Journal of pediatrics (01.04.2010)
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Movement Disorder-Childhood Rating Scale: Reliability and Validity
Battini, Roberta, MD, PhD, Sgandurra, Giuseppina, MD, Petacchi, Elisa, MD, Guzzetta, Andrea, MD, PhD, Di Pietro, Roberta, PT, Giannini, Maria T., PT, Leuzzi, Vincenzo, MD, Mercuri, Eugenio, MD, Cioni, Giovanni, MD
Published in Pediatric neurology (01.10.2008)
Published in Pediatric neurology (01.10.2008)
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Scale for Evaluation of Movement Disorders in the First Three Years of Life
Battini, Roberta, MD, PhD, Guzzetta, Andrea, MD, PhD, Sgandurra, Giuseppina, MD, Di Pietro, Roberta, PT, Petacchi, Elisa, MD, PhD, Mercuri, Eugenio, MD, PhD, Giannini, Maria T., PT, Leuzzi, Vincenzo, MD, Cioni, Giovanni, MD
Published in Pediatric neurology (01.04.2009)
Published in Pediatric neurology (01.04.2009)
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