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Fabry disease: a rare disorder calling for personalized medicine.
Lerario S, Monti L, Ambrosetti I, Luglio A, Pietra A, Aiello V, Montanari F, Bellasi A, Zaza G, Galante A, Salera D, Capelli I, La Manna G, Provenzano M. Lerario S, et al. Among authors: pietra a. Int Urol Nephrol. 2024 Apr 13. doi: 10.1007/s11255-024-04042-4. Online ahead of print. Int Urol Nephrol. 2024. PMID: 38613662 Review.
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
DNAJB11 Mutation in ADPKD Patients: Clinical Characteristics in a Monocentric Cohort.
Aiello V, Ciurli F, Conti A, Cristalli CP, Lerario S, Montanari F, Sciascia N, Vischini G, Fabbrizio B, Di Costanzo R, Olivucci G, Pietra A, Lopez A, Zambianchi L, La Manna G, Capelli I. Aiello V, et al. Among authors: pietra a. Genes (Basel). 2023 Dec 19;15(1):3. doi: 10.3390/genes15010003. Genes (Basel). 2023. PMID: 38275584 Free PMC article.