Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

272 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A gene silencing-based approach to tackle fatty liver disease.
Strnad P, Schrader C, Brunetti-Pierri N. Strnad P, et al. 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.
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. 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 Clinical Trial.
Human iPSC-hepatocyte modeling of alpha-1 antitrypsin heterozygosity reveals metabolic dysregulation and cellular heterogeneity.
Kaserman JE, Werder RB, Wang F, Matte T, Higgins MI, Dodge M, Lindstrom-Vautrin J, Bawa P, Hinds A, Bullitt E, Caballero IS, Shi X, Gerszten RE, Brunetti-Pierri N, Liesa M, Villacorta-Martin C, Hollenberg AN, Kotton DN, Wilson AA. Kaserman JE, et al. Cell Rep. 2022 Dec 6;41(10):111775. doi: 10.1016/j.celrep.2022.111775. Cell Rep. 2022. PMID: 36476855 Free PMC article.
Myhre Syndrome.
Lin AE, Brunetti-Pierri N, Lindsay ME, Schimmenti LA, Starr LJ. Lin AE, et al. Among authors: brunetti pierri n. 2017 Apr 13 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2017 Apr 13 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 28406602 Free Books & Documents. Review.
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder.
De Falco A, De Dominicis A, Trivisano M, Specchio N, Digilio MC, Piscopo C, Capra V, Scala M, Iacomino M, Accogli A, Romano F, Salpietro V, Mancardi M, Striano P, Operto FF, Gburek-Augustat J, Perrin L, Capri Y, Lupo V, Elia M, Manti F, Pisani F, Brunetti-Pierri N, Terrone G. De Falco A, et al. Among authors: brunetti pierri n. Eur J Paediatr Neurol. 2024 Nov 23;54:8-17. doi: 10.1016/j.ejpn.2024.11.008. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 39603091
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.
Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A, Brunetti-Pierri N. Rossi A, et al. Among authors: brunetti pierri n. Med. 2024 Nov 12:S2666-6340(24)00419-7. doi: 10.1016/j.medj.2024.10.021. Online ahead of print. Med. 2024. PMID: 39547230
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. Brands M, et al. Among authors: brunetti pierri n. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. Mol Genet Metab. 2024. PMID: 39522365 Free article. Review. No abstract available.
272 results