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Ilaria Palmieri

Observed names: I. Palmieri, Ilaria PALMIERI, Ilaria, Palmieri, Palmieri, Ilaria
ORCID: 0000-0002-0304-7299
Observed ORCID: 0000-0002-0304-7299
OpenAlex ID: A5073787193
GBA ‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
2020 · Simona Petrucci, Monia Ginevrino, et al. · Movement Disorders · 143
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis—Frontotemporal Dementia
2022 · Eveljn Scarian, Giuseppe Fiamingo, et al. · Frontiers in Neurology · 54
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Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort
2023 · Micol Avenali, Roberta Zangaglia, et al. · Journal of Neurology Neurosurgery & Psychiatry · 43
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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-controlled, phase II trial. The AMBITIOUS study protocol
2023 · Fabiana Colucci, Micol Avenali, et al. · BMJ Neurology Open · 42
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A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome
2018 · Massimiliano Filosto, Stefano Piccinelli, et al. · Journal of Clinical Medicine · 27
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Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant
2025 · Micol Avenali, Carlo Alberto Artusi, et al. · Neurology · 18
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study
2022 · Marco Percetti, Giulia Franco, et al. · Movement Disorders · 14
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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
2023 · Alessio Di Fonzo, Marco Percetti, et al. · Movement Disorders · 12
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PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype
2021 · Ilaria Palmieri, Marialuisa Valente, et al. · International Journal of Molecular Sciences · 11
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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
2023 · Valentina Serpieri, Giulia Mortarini, et al. · Journal of Medical Genetics · 9
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Motor and non-motor features in Parkinson’s Disease patients carrying GBA gene mutations
2023 · Giovanna De Michele, Gianluigi Rosario Palmieri, et al. · Acta Neurologica Belgica · 9
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation
2024 · Emiliano Giardina, Paola Mandich, et al. · Frontiers in Neurology · 7
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)
2023 · Paola De Filippi, Edoardo Errichiello, et al. · Current Issues in Molecular Biology · 7
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Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer’s Disease and Lewy Body Dementia
2022 · Ilaria Palmieri, Tino Emanuele Poloni, et al. · Biomedicines · 7
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LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease
2025 · Giada Cuconato, Ilaria Palmieri, et al. · Parkinsonism & Related Disorders · 6
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Benign Hereditary Chorea as a Manifestation of HPCA Mutation
2022 · Sara Brunetti, Serena Micheletti, et al. · Movement Disorders Clinical Practice · 6
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA- FGF14 -Related Ataxia
2024 · Pierfrancesco Mitrotti, Elisa Vegezzi, et al. · Neurology Genetics · 5
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Pathology and Genetics in a Global Cohort of Parkinsonian Disorders
2026 · Lesley Y. Wu, Tessa du Toit, et al. · JAMA Neurology · 4
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Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation
2021 · Giuliana Capece, Mauro Ceroni, et al. · Frontiers in Neurology · 4
Functional Study of SNCA p. V15A Variant: Further Linking α‐Synuclein and Glucocerebrosidase
2024 · Micol Avenali, Silvia Cerri, et al. · Movement Disorders · 2
Unraveling the role of GBA1 genotype in axial signs response to subthalamic deep brain stimulation
2025 · Francesco Bove, Danilo Genovese, et al. · npj Parkinson s Disease
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Ectodermal dysplasia/skin fragility syndrome: first Italian case due to a new homozygous mutation in the PKP1 gene
2025 · Riccardo BALESTRI, Davide GEAT, et al. · Italian Journal of Dermatology and Venereology
Intronic GAA-FGF14 Expansion in an italian patient presenting with early-onset cerebellar ataxia
2024 · P. Mitrotti, M. Avenali, et al. · Parkinsonism & Related Disorders
Interaction between sex and GBA mutations influences clinical phenotype in Parkinson disease
2024 · L. Gallo, M. Avenali, et al. · Parkinsonism & Related Disorders
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report
2024 · Alberto Imarisio, Andrea Pilotto, et al. · Parkinsonism & Related Disorders
Works count: 31
Citation count: 429
H-index: 9
I10-index: 9
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