Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up

por Scarpelli, Mauro, Tomelleri, Giuliano, Bertolasi, Laura, Salviati, Alessandro
Publicado 2014

Mitochondrial diseases: advances and issues

por Scarpelli, Mauro, Todeschini, Alice, Volonghi, Irene, Padovani, Alessandro, Filosto, Massimiliano
Publicado 2017

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

por Scarpelli, Mauro, Zappini, Francesca, Filosto, Massimiliano, Russignan, Anna, Tonin, Paola, Tomelleri, Giuliano
Publicado 2012

Non-muscle involvement in late-onset Glycogenosis II

por FILOSTO, MASSIMILIANO, TODESCHINI, ALICE, COTELLI, MARIA SOFIA, VIELMI, VALENTINA, RINALDI, FABRIZIO, ROTA, SILVIA, SCARPELLI, MAURO, PADOVANI, ALESSANDRO
Publicado 2013

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

por Filosto, Massimiliano, Cotti Piccinelli, Stefano, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Galvagni, Anna, Volonghi, Irene, Scarpelli, Mauro, Padovani, Alessandro
Publicado 2018

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis

por Scarpelli, Mauro, Russignan, Anna, Zombor, Melinda, Bereczki, Csaba, Zappini, Francesca, Buono, Romina, Bax, Bridget E., Padovani, Alessandro, Tonin, Paola, Filosto, Massimiliano
Publicado 2012

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

por Levene, Michelle, Bain, Murray D., Moran, Nicholas F., Nirmalananthan, Niranjanan, Poulton, Joanna, Scarpelli, Mauro, Filosto, Massimiliano, Mandel, Hanna, MacKinnon, Andrew D., Fairbanks, Lynette, Pacitti, Dario, Bax, Bridget E
Publicado 2019

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multip...

por Bax, Bridget E., Levene, Michelle, Bain, Murray D., Fairbanks, Lynette D., Filosto, Massimiliano, Kalkan Uçar, Sema, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M., Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan
Publicado 2019