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A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
Geroldi A, Tozza S, Fiorillo C, Nolano M, Fossa P, Vitale F, Domi R, Gaudio A, Mammi A, Patrone S, Barbera A, Origone P, Ponti C, Sanguineri F, Zara F, Cataldi M, Salpietro V, Venturi CB, Massucco S, Schenone A, Manganelli F, Mandich P, Bellone E, Gotta F. Geroldi A, et al. Among authors: mammi a. J Peripher Nerv Syst. 2023 Dec;28(4):620-628. doi: 10.1111/jns.12602. Epub 2023 Nov 13. J Peripher Nerv Syst. 2023. PMID: 37897416
Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Gemelli C, Geroldi A, Massucco S, Trevisan L, Callegari I, Marinelli L, Ursino G, Hamedani M, Mennella G, Stara S, Maggi G, Mori L, Schenone C, Gotta F, Patrone S, Mammi A, Origone P, Prada V, Nobbio L, Mandich P, Schenone A, Bellone E, Grandis M. Gemelli C, et al. Among authors: mammi a. Life (Basel). 2022 Mar 10;12(3):402. doi: 10.3390/life12030402. Life (Basel). 2022. PMID: 35330153 Free PMC article.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A, Ponti C, Mammi A, Patrone S, Gotta F, Trevisan L, Sanguineri F, Origone P, Gaudio A, La Barbera A, Cataldi M, Gemelli C, Massucco S, Schenone A, Lanteri P, Fiorillo C, Grandis M, Mandich P, Bellone E. Geroldi A, et al. Among authors: mammi a. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336