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Page 1
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A, Bruno G, Petracca M, Bentivoglio AR, Servidei S, Vita MG, Bove F, Straccia G, Dato C, Di Iorio G, Sampaolo S, Peluso S, De Rosa A, De Michele G, Barghigiani M, Galatolo D, Tessa A, Santorelli F, Chiurazzi P, Melone MAB. Vaisfeld A, et al. Among authors: chiurazzi p. Genes (Basel). 2021 Feb 26;12(3):344. doi: 10.3390/genes12030344. Genes (Basel). 2021. PMID: 33652783 Free PMC article. Clinical Trial.
Deep brain stimulation in Fragile X syndrome with tardive dystonia.
Bove F, Piano C, Bentivoglio AR, Chiurazzi P, Tufo T. Bove F, et al. Among authors: chiurazzi p. Neurol Sci. 2021 Jul;42(7):2987-2989. doi: 10.1007/s10072-021-05112-6. Epub 2021 Feb 12. Neurol Sci. 2021. PMID: 33576914 No abstract available.
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Lo Vecchio F, Tabolacci E, Nobile V, Pomponi MG, Pietrobono R, Neri G, Amenta S, Candida E, Grippaudo C, Lo Cascio E, Vita A, Tiberio F, Arcovito A, Lattanzi W, Genuardi M, Chiurazzi P. Lo Vecchio F, et al. Among authors: chiurazzi p. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Cristofoli F, Sorrentino E, Guerri G, Miotto R, Romanelli R, Zulian A, Cecchin S, Paolacci S, Miertus J, Bertelli M, Maltese PE, Chiurazzi P, Stuppia L, Castori M, Marceddu G. Cristofoli F, et al. Among authors: chiurazzi p. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M. Falsini B, et al. Among authors: chiurazzi p. Sci Rep. 2022 Mar 8;12(1):3774. doi: 10.1038/s41598-022-07618-1. Sci Rep. 2022. PMID: 35260635 Free PMC article.
132 results