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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. 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
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.
Mandich P, Grandis M, Varese A, Geroldi A, Acquaviva M, Ciotti P, Gulli R, Doria-Lamba L, Fabrizi GM, Giribaldi G, Pizzuti A, Schenone A, Bellone E. Mandich P, et al. Among authors: geroldi a. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728
Two families with novel PMP22 point mutations: genotype-phenotype correlation.
Pisciotta C, Manganelli F, Iodice R, Bellone E, Geroldi A, Volpi N, Mandich P, Santoro L. Pisciotta C, et al. Among authors: geroldi a. J Peripher Nerv Syst. 2009 Sep;14(3):208-12. doi: 10.1111/j.1529-8027.2009.00235.x. J Peripher Nerv Syst. 2009. PMID: 19909487 No abstract available.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: geroldi a. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S, Origone P, Geroldi A, Bandettini Di Poggio M, Mantero V, Bellone E, Mancardi G, Caponnetto C, Mandich P. Verdiani S, et al. Among authors: geroldi a. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):228-9. doi: 10.3109/21678421.2012.760605. Epub 2013 Jan 22. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23336365 No abstract available.
39 results