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Edoardo Monfrini
Edoardo Monfrini
Universitą degli Studi di Milano, Fondazione IRCCS Cą Granda Ospedale Maggiore Policlinico
Verified email at unimi.it - Homepage
Title
Cited by
Cited by
Year
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
932020
Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson’s Disease
E Monfrini, A Di Fonzo
Leucine-rich repeat kinase 2 (LRRK2), 3-30, 2017
792017
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
352018
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
332017
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
292015
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
282016
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
272022
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
242019
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
222021
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
192022
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
172020
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
172018
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
162021
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
162021
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
162015
Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease
G Buongarzone, E Monfrini, G Franco, I Trezzi, L Borellini, E Frattini, ...
Parkinsonism & related disorders 39, 87-88, 2017
132017
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
122022
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
122021
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
112020
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
M Percetti, G Franco, E Monfrini, L Caporali, R Minardi, C La Morgia, ...
Movement Disorders 37 (9), 1938-1943, 2022
92022
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