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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

82 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Gene therapy for deafness: are we there now?
Moser T, Chen H, Kusch K, Behr R, Vona B. Moser T, et al. Among authors: vona b. EMBO Mol Med. 2024 Apr;16(4):675-677. doi: 10.1038/s44321-024-00058-6. Epub 2024 Mar 25. EMBO Mol Med. 2024. PMID: 38528140 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: vona b. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D. Koparir A, et al. Among authors: vona b. Hum Genomics. 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w. Hum Genomics. 2024. PMID: 38448978 Free PMC article.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M. Ni C, et al. Among authors: vona b. bioRxiv [Preprint]. 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708. bioRxiv. 2024. PMID: 38260472 Free PMC article. Preprint.
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mendia C, Peineau T, Zamani M, Felgerolle C, Yahiaoui N, Christophersen N, Papal S, Maudoux A, Maroofian R, Patni P, Nouaille S, Bowl MR, Delmaghani S, Galehdari H, Vona B, Dulon D, Vitry S, El-Amraoui A. Mendia C, et al. Among authors: vona b. Mol Ther. 2024 Mar 6;32(3):800-817. doi: 10.1016/j.ymthe.2024.01.021. Epub 2024 Jan 18. Mol Ther. 2024. PMID: 38243601 Free article.
82 results