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Page 1
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: sanguineri f. J Peripher Nerv Syst. 2024 Sep 9. doi: 10.1111/jns.12657. Online ahead of print. J Peripher Nerv Syst. 2024. PMID: 39251209
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. Among authors: sanguineri f. 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: sanguineri f. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336
Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
Esposito P, Caputo C, Repetto M, Somaschini A, Pietro B, Colomba P, Zizzo C, Parodi A, Zanetti V, Canepa M, Eustachi V, Sanguineri F, Mandich P, Viazzi F. Esposito P, et al. Among authors: sanguineri f. BMC Nephrol. 2023 Nov 21;24(1):344. doi: 10.1186/s12882-023-03388-8. BMC Nephrol. 2023. PMID: 37990184 Free PMC article. Review.
Case report: Episodic ataxia without ataxia?
Gaudio A, Gotta F, Ponti C, Sanguineri F, Trevisan L, Geroldi A, Patrone S, Gemelli C, Cabona C, Astrea G, Fiorillo C, Gustincich S, Grandis M, Mandich P. Gaudio A, et al. Among authors: sanguineri f. Front Neurol. 2023 Oct 26;14:1224241. doi: 10.3389/fneur.2023.1224241. eCollection 2023. Front Neurol. 2023. PMID: 37965175 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: sanguineri f. 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
COVID-19 in Children with Nephrotic Syndrome on Anti-CD20 Chronic Immunosuppression.
Angeletti A, Drovandi S, Sanguineri F, Santaniello M, Ferrando G, Forno R, Cipresso G, Caridi G, Riella LV, Cravedi P, Ghiggeri GM. Angeletti A, et al. Among authors: sanguineri f. Clin J Am Soc Nephrol. 2020 Oct 7;15(10):1494-1495. doi: 10.2215/CJN.06400420. Epub 2020 Jul 10. Clin J Am Soc Nephrol. 2020. PMID: 32718953 Free PMC article. No abstract available.