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Page 1
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M. Massucco S, et al. Front Genet. 2024 Dec 5;15:1437859. doi: 10.3389/fgene.2024.1437859. eCollection 2024. Front Genet. 2024. PMID: 39703226 Free PMC article.
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: massucco s. 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: massucco s. 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: massucco s. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies.
Geroldi A, La Barbera A, Mammi A, Origone P, Gaudio A, Ponti C, Sanguineri F, Matà S, Sperti M, Carboni I, Bellone E, Gotta F, Gemelli C, Massucco S, Valeria G, Marinelli L, Grandis M, Bisogni G, Sabatelli M, Piscosquito G, Esposito G, Schenone A, Manganelli F, Mandich P, Tozza S, Luigetti M. Geroldi A, et al. Among authors: massucco s. J Peripher Nerv Syst. 2024 Dec;29(4):472-486. doi: 10.1111/jns.12657. Epub 2024 Sep 9. J Peripher Nerv Syst. 2024. PMID: 39251209 Free PMC article.
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