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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.
Grandis M, Obici L, Luigetti M, Briani C, Benedicenti F, Bisogni G, Canepa M, Cappelli F, Danesino C, Fabrizi GM, Fenu S, Ferrandes G, Gemelli C, Manganelli F, Mazzeo A, Melchiorri L, Perfetto F, Pradotto LG, Rimessi P, Tini G, Tozza S, Trevisan L, Pareyson D, Mandich P. Grandis M, et al. Orphanet J Rare Dis. 2020 Dec 14;15(1):348. doi: 10.1186/s13023-020-01633-z. Orphanet J Rare Dis. 2020. PMID: 33317601 Free PMC article.
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: grandis m. J Child Neurol. 2010 Jan;25(1):107-9. doi: 10.1177/0883073809334387. Epub 2009 May 11. J Child Neurol. 2010. PMID: 19435728
Gene symbol: GNE. Disease: Inclusion body myopathy.
Bruno C, Grandis M, Cassandrini D, Bellone E, Mandich P, Gulli R. Bruno C, et al. Among authors: grandis m. Hum Genet. 2008 Jun;123(5):552. Hum Genet. 2008. PMID: 20960651 No abstract available.
174 results