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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: manti f. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: manti f. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Scala I, Brodosi L, Gueraldi D, Manti F, Rovelli V, Zuvadelli J, Agnelli G, Cazzorla C, Nardecchia F, Giammanco A, Biasucci G. Scala I, et al. Among authors: manti f. Mol Genet Metab. 2024 May;142(1):108151. doi: 10.1016/j.ymgme.2024.108151. Epub 2024 Feb 2. Mol Genet Metab. 2024. PMID: 38522180 Free article.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: manti f. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
Risks and Protective Factors Associated With Mental Health Symptoms During COVID-19 Home Confinement in Italian Children and Adolescents: The #Understandingkids Study.
Oliva S, Russo G, Gili R, Russo L, Di Mauro A, Spagnoli A, Alunni Fegatelli D, Romani M, Costa A, Veraldi S, Manti F. Oliva S, et al. Among authors: manti f. Front Pediatr. 2021 Jun 11;9:664702. doi: 10.3389/fped.2021.664702. eCollection 2021. Front Pediatr. 2021. PMID: 34178884 Free PMC article.
87 results