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Page 1
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: petrucci s. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava F, Micolonghi C, Musumeci MB, Petrucci S, Savio C, Fabiani M, Tini G, Germani A, Libi F, Rossi C, Visco V, Pizzuti A, Volpe M, Autore C, Rubattu S, Piane M. Cava F, et al. Among authors: petrucci s. Front Cardiovasc Med. 2023 Apr 5;10:1112759. doi: 10.3389/fcvm.2023.1112759. eCollection 2023. Front Cardiovasc Med. 2023. PMID: 37089884 Free PMC article.
Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort.
Caroselli S, Fabiani M, Micolonghi C, Savio C, Tini G, Musumeci B, Pagannone E, Germani A, Libi F, Visco V, Pizzuti A, Autore C, Petrucci S, Rubattu S, Piane M. Caroselli S, et al. Among authors: petrucci s. Ann Lab Med. 2024 Oct 2. doi: 10.3343/alm.2024.0201. Online ahead of print. Ann Lab Med. 2024. PMID: 39355877 Free article.
The role of genetic testing in suspected fulminant myocarditis: A case report.
Mistrulli R, Micolonghi C, Follesa F, Fabiani M, Pagannone E, D'Amati G, Giordano C, Caroselli S, Savio C, Germani A, Pizzuti A, Visco V, Petrucci S, Rubattu S, Piane M, Autore C. Mistrulli R, et al. Among authors: petrucci s. Mol Genet Metab Rep. 2023 Aug 22;37:101000. doi: 10.1016/j.ymgmr.2023.101000. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 37662494 Free PMC article.
Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.
Mazzilli R, Petrucci S, Zamponi V, Golisano B, Pecora G, Mancini C, Salerno G, Alesi L, De Santis I, Libi F, Rossi C, Borro M, Raffa S, Visco V, Defeudis G, Piane M, Faggiano A. Mazzilli R, et al. Among authors: petrucci s. J Clin Med. 2024 Jul 27;13(15):4399. doi: 10.3390/jcm13154399. J Clin Med. 2024. PMID: 39124666 Free PMC article.
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy.
Micolonghi C, Fabiani M, Pagannone E, Savio C, Ricci M, Caroselli S, Gambioli V, Musumeci B, Germani A, Tini G, Autore C, Pizzuti A, Visco V, Rubattu S, Petrucci S, Piane M. Micolonghi C, et al. Among authors: petrucci s. Curr Issues Mol Biol. 2023 Mar 15;45(3):2422-2430. doi: 10.3390/cimb45030157. Curr Issues Mol Biol. 2023. PMID: 36975527 Free PMC article.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: petrucci s. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.
European Neuroendocrine Tumor Society 2023 guidance paper for functioning pancreatic neuroendocrine tumour syndromes.
Hofland J, Falconi M, Christ E, Castaño JP, Faggiano A, Lamarca A, Perren A, Petrucci S, Prasad V, Ruszniewski P, Thirlwell C, Vullierme MP, Welin S, Bartsch DK. Hofland J, et al. Among authors: petrucci s. J Neuroendocrinol. 2023 Aug;35(8):e13318. doi: 10.1111/jne.13318. Epub 2023 Aug 14. J Neuroendocrinol. 2023. PMID: 37578384 Free article.
165 results