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Journal of Neurology, Neurosurgery, and Psychiatry|July 11, 2025
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes ProjectAlessandro Bertini, Stefano Facchini, Ilaria Quartesan, et al.Frontiers in Neurology|October 31, 2022
Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot studyGiuseppe Cosentino, Eugenia Maiorano, Massimiliano Todisco, et al.Journal of Neurology|September 6, 2022
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional studyElisa Vegezzi, Andrea Cortese, Niels Bergsland, et al.Biomolecules|October 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat ExpansionsStefano Facchini, Natalia Dominik, Arianna Manini, et al.Neurology|October 26, 2022
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia SyndromeRiccardo Ronco, Cecilia Perini, Riccardo Currò, et al.Movement Disorders : Official Journal of the Movement Disorder Society|December 6, 2023
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease SpectrumIlaria Quartesan, Elisa Vegezzi, Riccardo Currò, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.Brain : a Journal of Neurology|July 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosisNatalia Dominik, Stefania Magri, Riccardo Currò, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.Pageof 1