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Page 1
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, Valente EM; PARKNET study group. Di Fonzo A, et al. Among authors: gaudio a. Mov Disord. 2023 Dec;38(12):2241-2248. doi: 10.1002/mds.29617. Epub 2023 Sep 26. Mov Disord. 2023. PMID: 37750340 Free article.
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. Front Neurol. 2023 Oct 26;14:1224241. doi: 10.3389/fneur.2023.1224241. eCollection 2023. Front Neurol. 2023. PMID: 37965175 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: gaudio 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
RAB32 mutation in Parkinson's disease.
Monfrini E, Minardi R, Valzania F, Calandra-Buonaura G, Mandich P, Di Fonzo A; ParkNet Study Group. Monfrini E, et al. Lancet Neurol. 2024 Oct;23(10):961-962. doi: 10.1016/S1474-4422(24)00324-7. Lancet Neurol. 2024. PMID: 39304252 No abstract available.
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: gaudio 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
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: gaudio a. 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
399 results