| 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 | 125 | 2020 |
| Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson’s Disease E Monfrini, A Di Fonzo Leucine-rich repeat kinase 2 (LRRK2), 3-30, 2017 | 95 | 2017 |
| A practical approach to early-onset parkinsonism GM Riboldi, E Frattini, E Monfrini, SJ Frucht, A Di Fonzo Journal of Parkinson’s disease 12 (1), 1-26, 2022 | 57 | 2022 |
| Genetics of movement disorders and the practicing clinician; who and what to test for? A Di Fonzo, E Monfrini, R Erro Current Neurology and Neuroscience Reports 18, 1-11, 2018 | 37 | 2018 |
| X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene A Ciammola, P Carrera, A Di Fonzo, J Sassone, R Villa, B Poletti, ... Parkinsonism & related disorders 44, 142-146, 2017 | 35 | 2017 |
| Mutational analysis of COQ2 in patients with MSA in Italy D Ronchi, E Di Biase, G Franco, V Melzi, F Del Sorbo, A Elia, C Barzaghi, ... Neurobiology of Aging 45, 213. e1-213. e2, 2016 | 34 | 2016 |
| A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism MC Malaguti, V Melzi, R Di Giacopo, E Monfrini, E Di Biase, G Franco, ... Parkinsonism & related disorders 21 (3), 337-339, 2015 | 31 | 2015 |
| HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia E Monfrini, M Zech, D Steel, MA Kurian, J Winkelmann, A Di Fonzo Brain 144 (9), 2610-2615, 2021 | 30 | 2021 |
| Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy E Monfrini, L Straniero, S Bonato, GM Compagnoni, A Bordoni, R Dilena, ... Parkinsonism & Related Disorders 63, 66-72, 2019 | 28 | 2019 |
| Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk L Straniero, V Rimoldi, E Monfrini, S Bonvegna, G Melistaccio, J Lake, ... Movement Disorders 37 (6), 1202-1210, 2022 | 26 | 2022 |
| Leukoencephalopathy with calcifications and cysts: genetic and phenotypic spectrum YJ Crow, H Marshall, GI Rice, L Seabra, EM Jenkinson, K Baranano, ... American Journal of Medical Genetics Part A 185 (1), 15-25, 2021 | 26 | 2021 |
| Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort M Avenali, R Zangaglia, G Cuconato, I Palmieri, A Albanese, CA Artusi, ... Journal of Neurology, Neurosurgery & Psychiatry 95 (4), 309-315, 2024 | 23 | 2024 |
| A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia E Monfrini, F Cogiamanian, S Salani, L Straniero, G Fagiolari, ... Annals of Neurology 89 (4), 834-839, 2021 | 23 | 2021 |
| SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy G Bitetto, MC Malaguti, R Ceravolo, E Monfrini, L Straniero, A Morini, ... Parkinsonism & related disorders 74, 1-5, 2020 | 22 | 2020 |
| Unravelling genetic factors underlying corticobasal syndrome: a systematic review F Arienti, G Lazzeri, M Vizziello, E Monfrini, N Bresolin, MC Saetti, ... Cells 10 (1), 171, 2021 | 20 | 2021 |
| VPS13C-associated Parkinson's disease: two novel cases and review of the literature E Monfrini, F Spagnolo, M Canesi, A Seresini, A Rini, B Passarella, ... Parkinsonism & related disorders 94, 37-39, 2022 | 19 | 2022 |
| A de novo C19orf12 heterozygous mutation in a patient with MPAN E Monfrini, V Melzi, G Buongarzone, G Franco, D Ronchi, R Dilena, ... Parkinsonism & related disorders 48, 109-111, 2018 | 19 | 2018 |
| Juvenile dystonia-parkinsonism syndrome caused by a novel p. S941Tfs1X ATP13A2 (PARK9) mutation D Martino, V Melzi, G Franco, N Kandasamy, E Monfrini, A Di Fonzo Parkinsonism & Related Disorders 21 (11), 1378-1380, 2015 | 16 | 2015 |
| Brain calcifications: genetic, molecular, and clinical aspects E Monfrini, F Arienti, P Rinchetti, F Lotti, GM Riboldi International journal of molecular sciences 24 (10), 8995, 2023 | 15 | 2023 |
| Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency D Ronchi, E Monfrini, S Bonato, V Mancinelli, C Cinnante, S Salani, ... Annals of Clinical and Translational Neurology 7 (5), 839-845, 2020 | 14 | 2020 |
Alessio Di FonzoIRCCS Foundation Ca’ Granda Ospedale Maggiore Policlinico, Dino Ferrari CenterEmail verificata su policlinico.mi.it
