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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: origone p. 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
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.
Giardina E, Mandich P, Ghidoni R, Ticozzi N, Rossi G, Fenoglio C, Tiziano FD, Esposito F, Capellari S, Nacmias B, Mineri R, Campopiano R, Di Pilla L, Sammarone F, Zampatti S, Peconi C, De Angelis F, Palmieri I, Galandra C, Nicodemo E, Origone P, Gotta F, Ponti C, Nicsanu R, Benussi L, Peverelli S, Ratti A, Ricci M, Di Fede G, Magri S, Serpente M, Lattante S, Domi T, Carrera P, Saltimbanco E, Bagnoli S, Ingannato A, Albanese A, Tagliavini F, Lodi R, Caltagirone C, Gambardella S, Valente EM, Silani V. Giardina E, et al. Among authors: origone p. Front Neurol. 2024 Jan 31;15:1284459. doi: 10.3389/fneur.2024.1284459. eCollection 2024. Front Neurol. 2024. PMID: 38356886 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: origone p. Pediatr Neurol. 2024 May;154:4-8. doi: 10.1016/j.pediatrneurol.2024.02.002. Epub 2024 Feb 10. Pediatr Neurol. 2024. PMID: 38428336
An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation.
Ferrera L, Caponnetto C, Marini V, Rizzi D, Bordo D, Penco S, Amoroso A, Origone P, Garrè C. Ferrera L, et al. Among authors: origone p. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):167-70. doi: 10.1080/aml.4.3.167.170. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003. PMID: 13129804
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
Battistini S, Giannini F, Greco G, Bibbò G, Ferrera L, Marini V, Causarano R, Casula M, Lando G, Patrosso MC, Caponnetto C, Origone P, Marocchi A, Del Corona A, Siciliano G, Carrera P, Mascia V, Giagheddu M, Carcassi C, Orrù S, Garrè C, Penco S. Battistini S, et al. Among authors: origone p. J Neurol. 2005 Jul;252(7):782-8. doi: 10.1007/s00415-005-0742-y. Epub 2005 Mar 29. J Neurol. 2005. PMID: 15789135
77 results