Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy

por Tubili, Flavia, Pochiero, Francesca, Curcio, Maria Rosaria, Procopio, Elena
Publicado 2022

DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings

por Fino, Edoardo, Barbato, Alessandro, Scaturro, Giusi M., Procopio, Elena, Balestrini, Simona
Publicado 2023

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

por Tonin, Rodolfo, Catarzi, Serena, Caciotti, Anna, Procopio, Elena, Marini, Carla, Guerrini, Renzo, Morrone, Amelia
Publicado 2018

Communicating a Positive Result at Newborn Screening and Parental Distress

por Lastrucci, Elisa, Daniotti, Marta, Procopio, Elena, Scaturro, Giusi, Tubili, Flavia, Martin, Rosanna, la Marca, Giancarlo
Publicado 2023

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

por Brambilla, Alice, Olivotto, Iacopo, Favilli, Silvia, Spaziani, Gaia, Passantino, Silvia, Procopio, Elena, Morrone, Amelia, Donati, Maria Alice
Publicado 2020

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

por Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia
Publicado 2020

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

por Peluso, Francesca, Palazzo, Viviana, Indolfi, Giuseppe, Mari, Francesco, Pasqualetti, Roberta, Procopio, Elena, Nesti, Claudia, Guerrini, Renzo, Santorelli, Filippo, Giglio, Sabrina
Publicado 2021

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

por Vetro, Annalisa, Pisano, Tiziana, Chiaro, Silvia, Procopio, Elena, Guerra, Azzurra, Parrini, Elena, Mei, Davide, Virdò, Simona, Mangone, Giusi, Azzari, Chiara, Guerrini, Renzo
Publicado 2020

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

por Miselli, Francesca, Brambilla, Alice, Calabri, Giovanni Battista, Favilli, Silvia, Sanvito, Maria Chiara, Ragni, Luca, Torcetta, Francesco, Rossi, Katia, Donati, Maria Alice, Procopio, Elena
Publicado 2021

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

por 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
Publicado 2014

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

por 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
Publicado 2021

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

por 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
Publicado 2017

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

por Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella
Publicado 2021

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

por 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
Publicado 2017

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

por 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
Publicado 2019

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

por Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2021

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

por 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
Publicado 2021

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

por 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
Publicado 2016

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022