Management of hereditary spastic paraplegia: a systematic review of the literature M Bellofatto, G De Michele, A Iovino, A Filla, FM Santorelli Frontiers in neurology 10, 3, 2019 | 75 | 2019 |
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families M Lieto, V Riso, D Galatolo, G De Michele, S Rossi, M Barghigiani, ... European journal of neurology 27 (3), 498-505, 2020 | 59 | 2020 |
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families G De Michele, M Lieto, D Galatolo, E Salvatore, S Cocozza, M Barghigiani, ... Parkinsonism & related disorders 65, 91-96, 2019 | 57 | 2019 |
Spinocerebellar ataxia type 48: last but not least G De Michele, D Galatolo, M Barghigiani, D Dello Iacovo, R Trovato, ... Neurological Sciences 41, 2423-2432, 2020 | 41 | 2020 |
Degenerative and acquired sporadic adult onset ataxia M Lieto, A Roca, FM Santorelli, T Fico, G De Michele, M Bellofatto, ... Neurological Sciences 40, 1335-1342, 2019 | 37 | 2019 |
Conventional MRI findings in hereditary degenerative ataxias: a pictorial review S Cocozza, G Pontillo, G De Michele, M Di Stasi, E Guerriero, T Perillo, ... Neuroradiology 63, 983-999, 2021 | 34 | 2021 |
NGS in hereditary ataxia: when rare becomes frequent D Galatolo, G De Michele, G Silvestri, V Leuzzi, C Casali, O Musumeci, ... International Journal of Molecular Sciences 22 (16), 8490, 2021 | 21 | 2021 |
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review SD Vecchia, A Tessa, C Dosi, J Baldacci, R Pasquariello, A Antenora, ... Journal of neurology, 1-14, 2022 | 20 | 2022 |
Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family EM Ramos, A Roca, N Chumchim, DR Dokuru, V Van Berlo, ... Neurogenetics 20, 99-102, 2019 | 19 | 2019 |
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia L Van de Vondel, J De Winter, D Beijer, G Coarelli, M Wayand, ... Movement Disorders 37 (6), 1175-1186, 2022 | 18 | 2022 |
The “crab sign”: an imaging feature of spinocerebellar ataxia type 48 S Cocozza, G Pontillo, G De Michele, T Perillo, E Guerriero, L Ugga, ... Neuroradiology 62, 1095-1103, 2020 | 18 | 2020 |
Magnetic resonance parkinsonism indices and interpeduncular angle in idiopathic normal pressure hydrocephalus and progressive supranuclear palsy L Ugga, R Cuocolo, S Cocozza, G Pontillo, A Elefante, M Quarantelli, ... Neuroradiology 62, 1657-1665, 2020 | 16 | 2020 |
Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome G De Michele, P Sorrentino, C Nesti, A Rubegni, L Ruggiero, S Peluso, ... Frontiers in Neurology 9, 728, 2018 | 16 | 2018 |
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias P Cunha, E Petit, M Coutelier, G Coarelli, C Mariotti, J Faber, ... The American Journal of Human Genetics 110 (7), 1098-1109, 2023 | 15 | 2023 |
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients I Di Donato, A Gallo, I Ricca, N Fini, G Silvestri, F Gurrieri, M Cirillo, ... Neurological Sciences, 1-7, 2022 | 15 | 2022 |
Cutaneous sensory and autonomic denervation in progressive supranuclear palsy R Dubbioso, V Provitera, F Vitale, A Stancanelli, I Borreca, G Caporaso, ... Neuropathology and Applied Neurobiology 47 (5), 653-663, 2021 | 15 | 2021 |
Mobility characteristics of children with spastic paraplegia due to a mutation in the KIF1A gene AE Van Beusichem, J Nicolai, J Verhoeven, L Speth, M Coenen, ... Neuropediatrics 51 (02), 146-153, 2020 | 13 | 2020 |
Prevalence and features of non-motor symptoms in Wilson’s disease GR Palmieri, G De Michele, M Matarazzo, F Di Dato, S Perillo, ... Parkinsonism & Related Disorders 95, 103-106, 2022 | 12 | 2022 |
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations G De Michele, D Galatolo, S Galosi, A Mignarri, G Silvestri, C Casali, ... Journal of Neurology, 1-9, 2022 | 10 | 2022 |
Migraine attack restores the response of vascular smooth muscle cells to nitric oxide but not to norepinephrine R Napoli, V Guardasole, E Zarra, A De Sena, F Saccà, A Ruvolo, S Grassi, ... World Journal of Cardiology 5 (10), 375, 2013 | 10 | 2013 |