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259 results

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Page 1
Gene Therapy in Patients with the Crigler-Najjar Syndrome.
D'Antiga L, Beuers U, Ronzitti G, Brunetti-Pierri N, Baumann U, Di Giorgio A, Aronson S, Hubert A, Romano R, Junge N, Bosma P, Bortolussi G, Muro AF, Soumoudronga RF, Veron P, Collaud F, Knuchel-Legendre N, Labrune P, Mingozzi F. D'Antiga L, et al. Among authors: brunetti pierri n. N Engl J Med. 2023 Aug 17;389(7):620-631. doi: 10.1056/NEJMoa2214084. N Engl J Med. 2023. PMID: 37585628 Clinical Trial.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253
A gene silencing-based approach to tackle fatty liver disease.
Strnad P, Schrader C, Brunetti-Pierri N. Strnad P, et al. Among authors: brunetti pierri n. Mol Ther Methods Clin Dev. 2024 Feb 9;32(1):101198. doi: 10.1016/j.omtm.2024.101198. eCollection 2024 Mar 14. Mol Ther Methods Clin Dev. 2024. PMID: 38371609 Free PMC article. No abstract available.
Vision on gyrate atrophy: why treat the liver?
Boffa I, Brunetti-Pierri N. Boffa I, et al. Among authors: brunetti pierri n. EMBO Mol Med. 2024 Jan;16(1):8-9. doi: 10.1038/s44321-023-00002-0. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177527 Free PMC article.
Liver-directed gene therapy for inherited metabolic diseases.
Baruteau J, Brunetti-Pierri N, Gissen P. Baruteau J, et al. Among authors: brunetti pierri n. J Inherit Metab Dis. 2024 Jan;47(1):9-21. doi: 10.1002/jimd.12709. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171926 Review.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
De Falco A, Karali M, Criscuolo C, Testa F, Barillari MR, Scarpato M, Gaudieri V, Cuocolo A, Russo A, Nigro V, Simonelli F, Banfi S, Brunetti-Pierri N. De Falco A, et al. Among authors: brunetti pierri n. Am J Med Genet A. 2024 May;194(5):e63517. doi: 10.1002/ajmg.a.63517. Epub 2023 Dec 27. Am J Med Genet A. 2024. PMID: 38149346
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. Among authors: brunetti pierri n. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
259 results