Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models S Petrucci, M Ginevrino, EM Valente Parkinsonism & related disorders 22, S16-S20, 2016 | 125 | 2016 |
Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism M Borsche, IR König, S Delcambre, S Petrucci, A Balck, N Brüggemann, ... Brain 143 (10), 3041-3051, 2020 | 122 | 2020 |
GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort S Petrucci, M Ginevrino, I Trezzi, E Monfrini, L Ricciardi, A Albanese, ... Movement Disorders 35 (11), 2106-2111, 2020 | 99 | 2020 |
Diffusion‐weighted magnetic resonance imaging in patients with partial status epilepticus C Di Bonaventura, F Bonini, J Fattouch, F Mari, S Petrucci, M Carnì, ... Epilepsia 50, 45-52, 2009 | 91 | 2009 |
First Observation of the Decay and a Measurement of R Aaij, CA Beteta, T Ackernley, B Adeva, M Adinolfi, H Afsharnia, ... Physical Review Letters 126 (8), 081804, 2021 | 88 | 2021 |
Impulsive-compulsive behaviors in parkin-associated Parkinson disease F Morgante, A Fasano, M Ginevrino, S Petrucci, L Ricciardi, F Bove, ... Neurology 87 (14), 1436-1441, 2016 | 77 | 2016 |
Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging E Flex, S Martinelli, A Van Dijck, A Ciolfi, S Cecchetti, E Coluzzi, ... The American Journal of Human Genetics 105 (3), 493-508, 2019 | 68 | 2019 |
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease J Theuns, A Verstraeten, K Sleegers, E Wauters, I Gijselinck, S Smolders, ... Neurology 83 (21), 1906-1913, 2014 | 68 | 2014 |
Intravenous levetiracetam as first‐line treatment of status epilepticus in the elderly J Fattouch, C Di Bonaventura, S Casciato, F Bonini, S Petrucci, L Lapenta, ... Acta neurologica scandinavica 121 (6), 418-421, 2010 | 63 | 2010 |
Phenotypic variability of PINK1 expression: 12 Years' clinical follow‐up of two Italian families L Ricciardi, S Petrucci, A Guidubaldi, T Ialongo, L Serra, A Ferraris, ... Movement Disorders 29 (12), 1561-1566, 2014 | 58 | 2014 |
Young-onset and late-onset Parkinson's disease exhibit a different profile of fluid biomarkers and clinical features T Schirinzi, G Di Lazzaro, GM Sancesario, S Summa, S Petrucci, ... Neurobiology of Aging 90, 119-124, 2020 | 51 | 2020 |
Genetic issues in the diagnosis of dystonias S Petrucci, EM Valente Frontiers in neurology 4, 34, 2013 | 43 | 2013 |
Genotype-phenotype correlations in monogenic Parkinson disease: a review on clinical and molecular findings D Guadagnolo, M Piane, MR Torrisi, A Pizzuti, S Petrucci Frontiers in neurology 12, 648588, 2021 | 41 | 2021 |
Parkinson disease genetics: a “continuum” from Mendelian to multifactorial inheritance S Petrucci, F Consoli, EM Valente Current molecular medicine 14 (8), 1079-1088, 2014 | 41 | 2014 |
Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees AE Elia, S Petrucci, A Fasano, M Guidi, S Valbonesi, L Bernardini, ... Movement Disorders 28 (6), 813-817, 2013 | 40 | 2013 |
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes J Hofland, M Falconi, E Christ, JP Castaño, A Faggiano, A Lamarca, ... | 39 | 2023 |
The protective effect of LRRK2 p. R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants MG Heckman, A Elbaz, AI Soto-Ortolaza, DJ Serie, JO Aasly, G Annesi, ... Neurobiology of aging 35 (1), 266. e5-266. e14, 2014 | 37 | 2014 |
Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium MG Heckman, AI Soto‐Ortolaza, JO Aasly, N Abahuni, G Annesi, ... Movement Disorders 28 (12), 1740-1744, 2013 | 36 | 2013 |
Genome-wide association and meta-analysis of age at onset in Parkinson disease: evidence from the COURAGE-PD consortium S Grover, AA Kumar Sreelatha, L Pihlstrom, C Domenighetti, C Schulte, ... Neurology 99 (7), e698-e710, 2022 | 35 | 2022 |
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs R Di Giacopo, L Cianetti, V Caputo, I La Torraca, F Piemonte, A Ciolfi, ... Journal of the Neurological Sciences 356 (1-2), 65-71, 2015 | 35 | 2015 |