Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer

由 Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, Amelia
發表在 J Neurol (2018)

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

由 Brambilla, Alice, Olivotto, Iacopo, Favilli, Silvia, Spaziani, Gaia, Passantino, Silvia, Procopio, Elena, Morrone, Amelia, Donati, Maria Alice
發表在 Orphanet J Rare Dis (2020)

SARS-CoV-2 infection in a patient with propionic acidemia

由 Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia
發表在 Orphanet J Rare Dis (2020)

Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

由 Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
發表在 BMC Med Genomics (2021)

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

由 Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
發表在 Neurol Genet (2020)

Neonatal heart failure and noncompaction/dilated cardiomyopathy from mucopolysaccharidosis. First description in literature

由 Miselli, Francesca, Brambilla, Alice, Calabri, Giovanni Battista, Favilli, Silvia, Sanvito, Maria Chiara, Ragni, Luca, Torcetta, Francesco, Rossi, Katia, Donati, Maria Alice, Procopio, Elena
發表在 Mol Genet Metab Rep (2021)

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance

由 Ferri, Lorenzo, Caciotti, Anna, Cavicchi, Catia, Rigoldi, Miriam, Parini, Rossella, Caserta, Marina, Chibbaro, Guido, Gasperini, Serena, Procopio, Elena, Donati, Maria Alice, Guerrini, Renzo, Morrone, Amelia
出版 2012

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

由 Tomanin, Rosella, Zanetti, Alessandra, D’Avanzo, Francesca, Rampazzo, Angelica, Gasparotto, Nicoletta, Parini, Rossella, Pascarella, Antonia, Concolino, Daniela, Procopio, Elena, Fiumara, Agata, Borgo, Andrea, Frigo, Anna Chiara, Scarpa, Maurizio
出版 2014

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

由 Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio
發表在 Mitochondrion (2021)

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

由 Marini, Carla, Romoli, Michele, Parrini, Elena, Costa, Cinzia, Mei, Davide, Mari, Francesco, Parmeggiani, Lucio, Procopio, Elena, Metitieri, Tiziana, Cellini, Elena, Virdò, Simona, De Vita, Dalila, Gentile, Mattia, Prontera, Paolo, Calabresi, Paolo, Guerrini, Renzo
發表在 Neurol Genet (2017)

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

由 Garone, Caterina, D’Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal
發表在 Hum Mol Genet (2017)

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

由 Tonin, Rodolfo, Caciotti, Anna, Procopio, Elena, Fischetto, Rita, Deodato, Federica, Mancardi, Maria Margherita, Di Rocco, Maja, Ardissone, Anna, Salviati, Alessandro, Marangi, Antonio, Strisciuglio, Pietro, Mangone, Giusi, Casini, Arianna, Ricci, Silvia, Fiumara, Agata, Parini, Rossella, Pavone, Francesco Saverio, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia
發表在 Sci Rep (2019)

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

由 Caciotti, Anna, Garman, Scott C, Rivera-Colón, Yadilette, Procopio, Elena, Catarzi, Serena, Ferri, Lorenzo, Guido, Carmen, Martelli, Paola, Parini, Rossella, Antuzzi, Daniela, Battini, Roberta, Sibilio, Michela, Simonati, Alessandro, Fontana, Elena, Salviati, Alessandro, Akinci, Gulcin, Cereda, Cristina, Dionisi-Vici, Carlo, Deodato, Francesca, d’Amico, Adele, d’Azzo, Alessandra, Bertini, Enrico, Filocamo, Mirella, Scarpa, Maurizio, di Rocco, Maja, Tifft, Cynthia J, Ciani, Federica, Gasperini, Serena, Pasquini, Elisabetta, Guerrini, Renzo, Donati, Maria Alice, Morrone, Amelia
出版 2011

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

由 Ticci, Chiara, Orsucci, Daniele, Ardissone, Anna, Bello, Luca, Bertini, Enrico, Bonato, Irene, Bruno, Claudio, Carelli, Valerio, Diodato, Daria, Doccini, Stefano, Donati, Maria Alice, Dosi, Claudia, Filosto, Massimiliano, Fiorillo, Chiara, La Morgia, Chiara, Lamperti, Costanza, Marchet, Silvia, Martinelli, Diego, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana Enrica, Montano, Vincenzo, Moroni, Isabella, Musumeci, Olimpia, Pancheri, Elia, Pegoraro, Elena, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Scalise, Roberta, Sciacco, Monica, Servidei, Serenella, Siciliano, Gabriele, Simoncini, Costanza, Tolomeo, Deborah, Tonin, Paola, Toscano, Antonio, Tubili, Flavia, Mancuso, Michelangelo, Battini, Roberta, Santorelli, Filippo Maria
發表在 J Clin Med (2021)

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

由 Mazzone, Elena S., Coratti, Giorgia, Sormani, Maria Pia, Messina, Sonia, Pane, Marika, D'Amico, Adele, Colia, Giulia, Fanelli, Lavinia, Berardinelli, Angela, Gardani, Alice, Lanzillotta, Valentina, D’Ambrosio, Paola, Petillo, Roberta, Cavallaro, Filippo, Frosini, Silvia, Bello, Luca, Bonfiglio, Serena, De Sanctis, Roberto, Rolle, Enrica, Forcina, Nicola, Magri, Francesca, Vita, Gianluca, Palermo, Concetta, Donati, Maria Alice, Procopio, Elena, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Torrente, Yvan, Previtali, Stefano C., Bruno, Claudio, Politano, Luisa, Comi, Giacomo P., D’Angelo, Maria Grazia, Bertini, Enrico, Mercuri, Eugenio
發表在 PLoS One (2016)