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

by Mauro Scarpelli, Giuliano Tomelleri, Laura Bertolasi, Alessandro Salviati
Published 2014-01-01

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

by Massimiliano Filosto, Stefano Cotti Piccinelli, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Anna Galvagni, Irene Volonghi, Mauro Scarpelli, Alessandro Padovani
Published 2018-10-01

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

by Mauro Scarpelli, Anna Russignan, Melinda Zombor, Csaba Bereczki, Francesca Zappini, Romina Buono, Bridget E. Bax, Alessandro Padovani, Paola Tonin, Massimiliano Filosto
Published 2012-12-01

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

by Michelle Levene, Murray D. Bain, Nicholas F. Moran, Niranjanan Nirmalananthan, Joanna Poulton, Mauro Scarpelli, Massimiliano Filosto, Hanna Mandel, Andrew D. MacKinnon, Lynette Fairbanks, Dario Pacitti, Bridget E Bax
Published 2019-04-01

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

by Bridget E. Bax, Michelle Levene, Murray D. Bain, Lynette D. Fairbanks, Massimiliano Filosto, Sema Kalkan Uçar, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, Shamima Rahman, Agathe Roubertie, Mauro Scarpelli, Philip M. Sedgwick, Moshe Baru, Marcia Sellos-Moura, Jeanie Price, Patrick Horn, Niranjanan Nirmalananthan
Published 2019-07-01