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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA G Ferrari, E Lamantea, A Donati, M Filosto, E Briem, F Carrara, R Parini, ... Brain 128 (4), 723-731, 2005 | 336 | 2005 |
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Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions M Filosto, SC Piccinelli, S Gazzina, C Foresti, B Frigeni, MC Servalli, ... Journal of Neurology, Neurosurgery & Psychiatry 92 (7), 751-756, 2021 | 221 | 2021 |
Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ... Neurology 80 (22), 2049-2054, 2013 | 207 | 2013 |
The role of mitochondria in neurodegenerative diseases M Filosto, M Scarpelli, MS Cotelli, V Vielmi, A Todeschini, V Gregorelli, ... Journal of neurology 258, 1763-1774, 2011 | 165 | 2011 |
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ... Journal of neurology 259, 952-958, 2012 | 159 | 2012 |
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Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database PE Doneddu, D Cocito, F Manganelli, R Fazio, C Briani, M Filosto, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (2), 125-132, 2019 | 150 | 2019 |
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability D Ronchi, A Di Fonzo, W Lin, A Bordoni, C Liu, E Fassone, S Pagliarani, ... The American Journal of Human Genetics 92 (2), 293-300, 2013 | 150 | 2013 |
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy JP Halter, W Michael, M Schüpbach, H Mandel, C Casali, K Orchard, ... Brain 138 (10), 2847-2858, 2015 | 148 | 2015 |
Neuropathology of mitochondrial diseases M Filosto, G Tomelleri, P Tonin, M Scarpelli, G Vattemi, N Rizzuto, ... Bioscience reports 27, 23-30, 2007 | 145 | 2007 |
A genome-wide association meta-analysis identifies a novel locus at 17q11. 2 associated with sporadic amyotrophic lateral sclerosis I Fogh, A Ratti, C Gellera, K Lin, C Tiloca, V Moskvina, L Corrado, ... Human molecular genetics 23 (8), 2220-2231, 2014 | 141 | 2014 |
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia RL McLaughlin, D Schijven, W Van Rheenen, KR Van Eijk, M O’brien, ... Nature communications 8 (1), 14774, 2017 | 139 | 2017 |
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ M Filosto, M Mancuso, Y Nishigaki, J Pancrudo, Y Harati, C Gooch, ... Archives of neurology 60 (9), 1279-1284, 2003 | 139 | 2003 |
Physical activity and amyotrophic lateral sclerosis: A European population‐based case–control study E Pupillo, P Messina, G Giussani, G Logroscino, S Zoccolella, A Chiò, ... Annals of neurology 75 (5), 708-716, 2014 | 133 | 2014 |
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3 L Maggi, L Bello, S Bonanno, A Govoni, C Caponnetto, L Passamano, ... Journal of Neurology, Neurosurgery & Psychiatry 91 (11), 1166-1174, 2020 | 128 | 2020 |
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