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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: mammi a. 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.
Functional seizures and binge eating disorder: A cross-sectional study.
Mammì A, Bova V, Martino I, Sammarra I, Ferlazzo E, Pascarella A, Abelardo D, Marsico O, Torino C, Cianci V, Viola G, Pecoraro V, Beghi M, Gambardella A, Pujia A, Aguglia U, Gasparini S. Mammì A, et al. Epilepsy Behav. 2024 Sep;158:109943. doi: 10.1016/j.yebeh.2024.109943. Epub 2024 Jul 13. Epilepsy Behav. 2024. PMID: 39002280 Free article.
The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
Mammi A, Geroldi A, Patrone S, Gotta F, Origone P, Gaudio A, La Barbera A, Sanguineri F, Ponti C, Iacomino M, Traverso M, Ferlazzo E, Schenone A, Pascarella A, Marsico O, Mandich P, Bellone E. Mammi A, et al. J Peripher Nerv Syst. 2024 Jun;29(2):279-285. doi: 10.1111/jns.12636. Epub 2024 Jun 14. J Peripher Nerv Syst. 2024. PMID: 38874107
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
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
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