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Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
Sciacchitano S, De Francesco GP, Piane M, Savio C, De Vitis C, Petrucci S, Salvati V, Goldoni M, Fabiani M, Mesoraca A, Micolonghi C, Torres B, Piccinetti A, Pippi R, Mancini R. Sciacchitano S, et al. Among authors: petrucci s. Diagnostics (Basel). 2022 Nov 30;12(12):2997. doi: 10.3390/diagnostics12122997. Diagnostics (Basel). 2022. PMID: 36553004 Free PMC article.
Impulsive-compulsive behaviors in parkin-associated Parkinson disease.
Morgante F, Fasano A, Ginevrino M, Petrucci S, Ricciardi L, Bove F, Criscuolo C, Moccia M, De Rosa A, Sorbera C, Bentivoglio AR, Barone P, De Michele G, Pellecchia MT, Valente EM. Morgante F, et al. Among authors: petrucci s. Neurology. 2016 Oct 4;87(14):1436-1441. doi: 10.1212/WNL.0000000000003177. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590295 Free PMC article.
DYT2 screening in early-onset isolated dystonia.
Carecchio M, Reale C, Invernizzi F, Monti V, Petrucci S, Ginevrino M, Morgante F, Zorzi G, Zibordi F, Bentivoglio AR, Valente EM, Nardocci N, Garavaglia B. Carecchio M, et al. Among authors: petrucci s. Eur J Paediatr Neurol. 2017 Mar;21(2):269-271. doi: 10.1016/j.ejpn.2016.10.001. Epub 2016 Oct 13. Eur J Paediatr Neurol. 2017. PMID: 27771228
Whole-exome sequencing for variant discovery in blepharospasm.
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Tian J, et al. Among authors: petrucci s. Mol Genet Genomic Med. 2018 May 16;6(4):601-26. doi: 10.1002/mgg3.411. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770609 Free PMC article.
Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication.
Petrucci S, Ferrazzano G, Ginevrino M, Tolve M, Berardelli I, Berardelli A, Fabbrini G, Valente EM. Petrucci S, et al. Mov Disord Clin Pract. 2017 Sep 8;4(6):889-892. doi: 10.1002/mdc3.12531. eCollection 2017 Nov-Dec. Mov Disord Clin Pract. 2017. PMID: 30713982 Free PMC article. No abstract available.
156 results