| Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells M Spinazzi, A Casarin, V Pertegato, L Salviati, C Angelini Nature protocols 7 (6), 1235-1246, 2012 | 955 | 2012 |
| Melanoma addiction to the long non-coding RNA SAMMSON E Leucci, R Vendramin, M Spinazzi, P Laurette, M Fiers, J Wouters, ... Nature 531 (7595), 518-522, 2016 | 542 | 2016 |
| 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 | 206 | 2013 |
| A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function M Spinazzi, S Cazzola, M Bortolozzi, A Baracca, E Loro, A Casarin, ... Human molecular genetics 17 (21), 3291-3302, 2008 | 138 | 2008 |
| Molecular diagnosis in LGMD2A: mutation analysis or protein testing? M Fanin, L Fulizio, AC Nascimbeni, M Spinazzi, G Piluso, VM Ventriglia, ... Human mutation 24 (1), 52-62, 2004 | 129 | 2004 |
| Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease M Fanin, AC Nascimbeni, L Fulizio, M Spinazzi, P Melacini, C Angelini The American journal of pathology 168 (4), 1309-1320, 2006 | 98 | 2006 |
| PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome M Spinazzi, E Radaelli, K Horré, AM Arranz, NV Gounko, P Agostinis, ... Proceedings of the National Academy of Sciences 116 (1), 277-286, 2019 | 84 | 2019 |
| Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy: do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance? M Spinazzi, F De Lazzari, B Tavolato, C Angelini, R Manara, M Armani Journal of neurology 254, 1012-1017, 2007 | 82 | 2007 |
| Aralar sequesters GABA into hyperactive mitochondria, causing social behavior deficits AK Kanellopoulos, V Mariano, M Spinazzi, YJ Woo, C McLean, U Pech, ... Cell 180 (6), 1178-1197. e20, 2020 | 75 | 2020 |
| PARL: The mitochondrial rhomboid protease M Spinazzi, B De Strooper Seminars in cell & developmental biology 60, 19-28, 2016 | 68 | 2016 |
| Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders M Spinazzi, A Casarin, V Pertegato, M Ermani, L Salviati, C Angelini Mitochondrion 11 (6), 893-904, 2011 | 65 | 2011 |
| Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study JF Howard, S Bresch, A Genge, C Hewamadduma, J Hinton, Y Hussain, ... The Lancet Neurology 22 (5), 395-406, 2023 | 64 | 2023 |
| Mitochondrial disorders of the nuclear genome C Angelini, L Bello, M Spinazzi, C Ferrati Acta Myologica 28 (1), 16, 2009 | 61 | 2009 |
| Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice AS Papadopoulou, L Serneels, T Achsel, W Mandemakers, ... Neurobiology of disease 73, 275-288, 2015 | 59 | 2015 |
| Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure MA Desbats, A Vetro, I Limongelli, G Lunardi, A Casarin, M Doimo, ... European Journal of Human Genetics 23 (9), 1254-1258, 2015 | 58 | 2015 |
| Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients D Borgia, A Malena, M Spinazzi, MA Desbats, L Salviati, AP Russell, ... Human molecular genetics 26 (6), 1087-1103, 2017 | 57 | 2017 |
| Subacute sensory ataxia and optic neuropathy with thiamine deficiency M Spinazzi, C Angelini, C Patrini Nature Reviews Neurology 6 (5), 288-293, 2010 | 54 | 2010 |
| Impact of coronavirus disease 2019 in a French cohort of myasthenia gravis G Solé, S Mathis, D Friedman, E Salort-Campana, C Tard, F Bouhour, ... Neurology 96 (16), e2109-e2120, 2021 | 53 | 2021 |
| Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A M Fanin, L Nardetto, AC Nascimbeni, E Tasca, M Spinazzi, R Padoan, ... Journal of medical genetics 44 (10), 609-614, 2007 | 47 | 2007 |
| “Mitochondrial neuropathies”: a survey from the large cohort of the Italian Network M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, ... Neuromuscular Disorders 26 (4-5), 272-276, 2016 | 42 | 2016 |
