| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 187 | 2019 |
| GSK3β mediates muscle pathology in myotonic dystrophy K Jones, C Wei, P Iakova, E Bugiardini, C Schneider-Gold, G Meola, ... The Journal of clinical investigation 122 (12), 4461-4472, 2012 | 137 | 2012 |
| Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes A Cortese, Y Zhu, AP Rebelo, S Negri, S Courel, L Abreu, CJ Bacon, ... Nature genetics 52 (5), 473-481, 2020 | 116 | 2020 |
| Plasma microRNAs as biomarkers for myotonic dystrophy type 1 A Perfetti, S Greco, E Bugiardini, R Cardani, P Gaia, C Gaetano, G Meola, ... Neuromuscular Disorders 24 (6), 509-515, 2014 | 84 | 2014 |
| Clinical and genetic characterization of leukoencephalopathies in adults DS Lynch, A Rodrigues Brandão de Paiva, WJ Zhang, E Bugiardini, ... Brain 140 (5), 1204-1211, 2017 | 82 | 2017 |
| Autonomic innervation in multiple system atrophy and pure autonomic failure V Donadio, P Cortelli, M Elam, V Di Stasi, P Montagna, B Holmberg, ... Journal of Neurology, Neurosurgery & Psychiatry 81 (12), 1327-1335, 2010 | 81 | 2010 |
| Small fiber neuropathy in female patients with Fabry disease R Liguori, V Di Stasi, E Bugiardini, R Mignani, A Burlina, W Borsini, ... Muscle & Nerve: Official Journal of the American Association of …, 2010 | 79 | 2010 |
| Daytime sympathetic hyperactivity in OSAS is related to excessive daytime sleepiness V Donadio, R Liguori, R Vetrugno, M Contin, M Elam, BG Wallin, ... Journal of sleep research 16 (3), 327-332, 2007 | 56 | 2007 |
| Long-term safety and efficacy of mexiletine for patients with skeletal muscle channelopathies KJ Suetterlin, E Bugiardini, JP Kaski, JM Morrow, E Matthews, MG Hanna, ... JAMA neurology 72 (12), 1531-1533, 2015 | 55 | 2015 |
| SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype E Bugiardini, I Rivolta, A Binda, AS Caminero, F Cirillo, A Cinti, ... Neuromuscular disorders 25 (4), 301-307, 2015 | 52 | 2015 |
| Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 R Cardani, M Giagnacovo, A Botta, F Rinaldi, A Morgante, B Udd, ... Journal of neurology 259, 2090-2099, 2012 | 52 | 2012 |
| Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study KR Schon, R Horvath, W Wei, C Calabrese, A Tucci, K Ibañez, T Ratnaike, ... Bmj 375, 2021 | 51 | 2021 |
| Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24–27, 2013, Ferrere (AT), Italy E Bugiardini, G Meola Neuromuscular Disorders 24 (5), 445-452, 2014 | 50 | 2014 |
| The diagnostic value of MRI pattern recognition in distal myopathies E Bugiardini, JM Morrow, S Shah, CL Wood, DS Lynch, AM Pitmann, ... Frontiers in neurology 9, 456, 2018 | 46 | 2018 |
| Muscle biopsy G Meola, E Bugiardini, R Cardani Journal of neurology 259, 601-610, 2012 | 46 | 2012 |
| Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 R Cardani, E Bugiardini, LV Renna, G Rossi, G Colombo, R Valaperta, ... PLoS One 8 (12), e83777, 2013 | 43 | 2013 |
| Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies E Passeri, E Bugiardini, VA Sansone, R Valaperta, E Costa, B Ambrosi, ... Journal of the neurological sciences 331 (1-2), 132-135, 2013 | 43 | 2013 |
| MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy E Bugiardini, AL Mitchell, ID Rosa, HT Horning-Do, AM Pitmann, ... Human Molecular Genetics 28 (16), 2711-2719, 2019 | 41 | 2019 |
| Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study YS Ng, MH Martikainen, GS Gorman, A Blain, E Bugiardini, A Bunting, ... Annals of neurology 86 (2), 310-315, 2019 | 41 | 2019 |
| Anhidrosis in multiple system atrophy: a preganglionic sudomotor dysfunction? V Donadio, M Nolano, M Elam, P Montagna, V Provitera, E Bugiardini, ... Movement disorders 23 (6), 885-888, 2008 | 41 | 2008 |
