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

by Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati
Published 2020-07-01

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

by Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone
Published 2020-10-01

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

by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
Published 2021-01-01

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

by Francesca Miselli, Alice Brambilla, Giovanni Battista Calabri, Silvia Favilli, Maria Chiara Sanvito, Luca Ragni, Francesco Torcetta, Katia Rossi, Maria Alice Donati, Elena Procopio
Published 2021-03-01

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

by Anna Ardissone, Claudio Bruno, Daria Diodato, Alice Donati, Daniele Ghezzi, Eleonora Lamantea, Costanza Lamperti, Michelangelo Mancuso, Diego Martinelli, Guido Primiano, Elena Procopio, Anna Rubegni, Filippo Santorelli, Maria Cristina Schiaffino, Serenella Servidei, Flavia Tubili, Enrico Bertini, Isabella Moroni
Published 2021-10-01

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

by Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M. Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Simone Sampaolo, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo M. Santorelli
Published 2021-07-01

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

by Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Published 2021-05-01

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

by Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D'Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Maria Grazia D'Angelo, Enrico Bertini, Eugenio Mercuri
Published 2016-01-01