| 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 | 189 | 2019 |
| Next generation molecular diagnosis of hereditary spastic paraplegias: an Italian cross-sectional study A D'Amore, A Tessa, C Casali, MT Dotti, A Filla, G Silvestri, A Antenora, ... Frontiers in Neurology 9, 981, 2018 | 73 | 2018 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of Neurology 86 (2), 225-240, 2019 | 69 | 2019 |
| Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study S Rossi, G Della Marca, M Ricci, A Perna, TF Nicoletti, V Brunetti, E Meleo, ... Journal of the neurological sciences 399, 118-124, 2019 | 44 | 2019 |
| Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic … M Santoro, L Fontana, M Masciullo, MLE Bianchi, S Rossi, E Leoncini, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1852 (12 …, 2015 | 34 | 2015 |
| Dysautonomia as onset symptom of myotonic dystrophy type 2 S Rossi, A Romano, A Modoni, F Perna, V Rizzo, M Santoro, M Monforte, ... European Neurology 79 (3-4), 166-170, 2018 | 2 | 2018 |
| Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1". S Rossi, G Della Marca, M Ricci, A Perna, TF Nicoletti, V Brunetti, E Meleo, ... J Neurol Sci., 2019 | 1 | 2019 |
| Reader response: high frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 G Silvestri, D Maccora, A Perna, S Rossi, V Valenza Neurology 90 (17), 814-814, 2018 | 1 | 2018 |
| Acute upward gaze palsy: Not always Parinaud syndrome S Rossi, G Frisullo, R Iorio European Journal of Ophthalmology 30 (6), NP5-NP6, 2020 | | 2020 |
| Letter of response to “Myotonic dystrophy type 1, individualised respiratory care rather than standart prognostication” S Rossi, G Silvestri Journal of the Neurological Sciences 401, 66, 2019 | | 2019 |
| Clarification on Uveal Melanoma Associated With Myotonic Dystrophy G Silvestri, S Rossi, A Perna JAMA ophthalmology 136 (12), 1426-1427, 2018 | | 2018 |
