Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

av Filosto, Massimiliano, Santorelli, Filippo M.
I publikationen Mol Genet Metab Rep (2016)

Editorial: Iron and Neurodegeneration

av Biasiotto, Giorgio, Filosto, Massimiliano, Zanella, Isabella
I publikationen Front Neurosci (2019)

Tetracyclines and Neuromuscular Disorders

av Orsucci, Daniele, Mancuso, Michelangelo, Filosto, Massimiliano, Siciliano, Gabriele
Publicerad 2012

Mitochondrial DNA sequence variation and neurodegeneration

av Mancuso, Michelangelo, Filosto, Massimiliano, Orsucci, Daniele, Siciliano, Gabriele
Publicerad 2008

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

av Cotelli, Mariasofia, Fontanella, Marco, Padovani, Alessandro, Filosto, Massimiliano
Publicerad 2014

Mitochondrial diseases: advances and issues

av Scarpelli, Mauro, Todeschini, Alice, Volonghi, Irene, Padovani, Alessandro, Filosto, Massimiliano
I publikationen Appl Clin Genet (2017)

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

av Scarpelli, Mauro, Zappini, Francesca, Filosto, Massimiliano, Russignan, Anna, Tonin, Paola, Tomelleri, Giuliano
Publicerad 2012

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

av Angelini, Corrado, Semplicini, Claudio, Tonin, Paola, Filosto, Massimiliano, Pegoraro, Elena, Sorarù, Gianni, Fanin, Marina
Publicerad 2009

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

av Bax, Bridget E., Bain, Murray D., Scarpelli, Mauro, Filosto, Massimiliano, Tonin, Paola, Moran, Nicholas
Publicerad 2013

Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

av Gobbo, Massimiliano, Lazzarini, Sara, Vacchi, Laura, Gaffurini, Paolo, Bissolotti, Luciano, Padovani, Alessandro, Filosto, Massimiliano
I publikationen Case Rep Neurol Med (2019)

May “Mitochondrial Eve” and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease?

av Ienco, Elena Caldarazzo, Simoncini, Costanza, Orsucci, Daniele, Petrucci, Loredana, Filosto, Massimiliano, Mancuso, Michelangelo, Siciliano, Gabriele
Publicerad 2011

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

av Paoletti, Matteo, Pichiecchio, Anna, Cotti Piccinelli, Stefano, Tasca, Giorgio, Berardinelli, Angela L., Padovani, Alessandro, Filosto, Massimiliano
I publikationen Front Neurol (2019)

Non-muscle involvement in late-onset Glycogenosis II

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

Small Nerve Fiber Pathology in Critical Illness

av Latronico, Nicola, Filosto, Massimiliano, Fagoni, Nazzareno, Gheza, Laura, Guarneri, Bruno, Todeschini, Alice, Lombardi, Raffaella, Padovani, Alessandro, Lauria, Giuseppe
Publicerad 2013

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

av Rota, Silvia, Marchina, Eleonora, Todeschini, Alice, Nanetti, Lorenzo, Rinaldi, Fabrizio, Vanotti, Alessandra, Mariotti, Caterina, Padovani, Alessandro, Filosto, Massimiliano
I publikationen Case Rep Neurol (2014)

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

av Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
I publikationen Mol Genet Metab Rep (2016)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

av Filosto, Massimiliano, Cotti Piccinelli, Stefano, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Galvagni, Anna, Volonghi, Irene, Scarpelli, Mauro, Padovani, Alessandro
I publikationen J Clin Med (2018)

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

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

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome

av Filosto, Massimiliano, Piccinelli, Stefano Cotti, Palmieri, Ilaria, Necchini, Nicola, Valente, Marialuisa, Zanella, Isabella, Biasiotto, Giorgio, Lorenzo, Diego Di, Cereda, Cristina, Padovani, Alessandro
I publikationen J Clin Med (2018)

Management of motor rehabilitation in individuals with muscular dystrophies. 1(st) Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25...

av Lombardo, Maria Elena, Carraro, Elena, Sancricca, Cristina, Armando, Michela, Catteruccia, Michela, Mazzone, Elena, Ricci, Giulia, Salamino, Ferdinando, Santorelli, Filippo Maria, Filosto, Massimiliano
I publikationen Acta Myol (2021)