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 | 98 | 2020 |
The role of VCP mutations in the Spectrum of amyotrophic lateral sclerosis—frontotemporal dementia E Scarian, G Fiamingo, L Diamanti, I Palmieri, S Gagliardi, O Pansarasa Frontiers in Neurology 13, 841394, 2022 | 28 | 2022 |
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome M Filosto, SC Piccinelli, I Palmieri, N Necchini, M Valente, I Zanella, ... Journal of Clinical Medicine 8 (1), 17, 2018 | 17 | 2018 |
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 | 10 | 2024 |
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 | 9 | 2022 |
Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations G De Michele, GR Palmieri, C Pane, EM Valente, I Palmieri, ... Acta Neurologica Belgica 123 (1), 221-226, 2023 | 5 | 2023 |
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype I Palmieri, M Valente, LM Farina, S Gana, B Minafra, R Zangaglia, ... International Journal of Molecular Sciences 22 (8), 3870, 2021 | 4 | 2021 |
A novel likely pathogenic SNCA variant associated with Parkinson's disease: 496 B Minafra Mov Disord 35, 2020 | 4 | 2020 |
Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p. D90A–SOD1 Mutation G Capece, M Ceroni, E Alfonsi, I Palmieri, C Cereda, L Diamanti Frontiers in Neurology 12, 708885, 2021 | 3 | 2021 |
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome V Serpieri, G Mortarini, H Loucks, T Biagini, A Micalizzi, I Palmieri, ... Journal of Medical Genetics 60 (9), 885-893, 2023 | 2 | 2023 |
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) P De Filippi, E Errichiello, A Toscano, T Mongini, M Moggio, S Ravaglia, ... Current Issues in Molecular Biology 45 (4), 2847-2860, 2023 | 2 | 2023 |
Benign hereditary chorea as a manifestation of HPCA mutation S Brunetti, S Micheletti, I Palmieri, EM Valente, E Fazzi Movement Disorders Clinical Practice 10 (1), 130, 2023 | 2 | 2023 |
Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer’s Disease and Lewy Body Dementia I Palmieri, TE Poloni, V Medici, S Zucca, A Davin, O Pansarasa, M Ceroni, ... Biomedicines 10 (7), 1687, 2022 | 2 | 2022 |
Ambroxol as a disease-modifying treatment to reduce the risk of cognitive impairment in GBA-associated Parkinson’s disease: a multicentre, randomised, double-blind, placebo … F Colucci, M Avenali, R De Micco, MF Poli, S Cerri, M Stanziano, A Bacila, ... BMJ Neurology Open 5 (2), 2023 | 1 | 2023 |
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report A Imarisio, A Pilotto, A Lupini, G Biasiotto, I Zanella, R Currò, E Vegezzi, ... Parkinsonism & Related Disorders 123, 106943, 2024 | | 2024 |
Reproductive cytotoxic and genotoxic impact of polystyrene microplastic on Paracentrotus lividus spermatozoa F Mottola, M Carannante, A Barretta, I Palmieri, L Rocco Current Research in Toxicology, 100173, 2024 | | 2024 |
Intronic GAA-FGF14 Expansion in an italian patient presenting with early-onset cerebellar ataxia P Mitrotti, M Avenali, E Vegezzi, R Zangaglia, A Cortese, R Currò, ... Parkinsonism & Related Disorders 122, 2024 | | 2024 |
Interaction between sex and GBA mutations influences clinical phenotype in Parkinson disease L Gallo, M Avenali, S Caminiti, P Mitrotti, M Pocora, G Cuconato, I Palmieri, ... Parkinsonism & Related Disorders 122, 2024 | | 2024 |
Oxidative Stress Biomarkers in Male Infertility: Established Methodologies and Future Perspectives F Mottola, I Palmieri, M Carannante, A Barretta, S Roychoudhury, L Rocco Genes 15 (5), 539, 2024 | | 2024 |
Functional Study of SNCA p.V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase M Avenali, S Cerri, I Palmieri, G Ongari, R Stiuso, G Buongarzone, ... Movement Disorders, 2024 | | 2024 |