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Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
Paloneva J, Manninen T, Christman G, Hovanes K, Mandelin J, Adolfsson R, Bianchin M, Bird T, Miranda R, Salmaggi A, Tranebjaerg L, Konttinen Y, Peltonen L. Paloneva J, et al. Among authors: salmaggi a. Am J Hum Genet. 2002 Sep;71(3):656-62. doi: 10.1086/342259. Epub 2002 Jun 21. Am J Hum Genet. 2002. PMID: 12080485 Free PMC article.
An Italian family with Nasu-Hakola disease.
Salmaggi A, Maccagnano E, Musso A, Di Lena L, Paloneva J, Boiardi A. Salmaggi A, et al. J Neurol. 2003 Jul;250(7):878-80. doi: 10.1007/s00415-003-1108-y. J Neurol. 2003. PMID: 12883936 No abstract available.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R. Marini M, et al. Among authors: salmaggi a. Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa. Genet Med. 2010. PMID: 20531206 Free article.
M-Bacod as first treatment for primary CNS lymphoma.
Boiardi A, Salmaggi A, Silvani A. Boiardi A, et al. Among authors: salmaggi a. Neurology. 1996 Jan;46(1):286-8. doi: 10.1212/wnl.46.1.286-a. Neurology. 1996. PMID: 8559406 No abstract available.
Radiotherapy at tumor recurrence in primary CNS lymphoma.
Boiardi A, Silvani A, Pozzi A, Salmaggi A. Boiardi A, et al. Among authors: salmaggi a. Neurology. 1998 Jun;50(6):1934-5. doi: 10.1212/wnl.50.6.1934-b. Neurology. 1998. PMID: 9633783 Clinical Trial. No abstract available.
327 results