Vona, Barbara

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03.06.2024

Catching up but still miles behind — a patient registry for otoferlin

Authors Vona B, Wollnik B, Strenzke N, Moser T Journal Experimental & Molecular Medicine Citation Exp Mol Med (2024). Abstract No abstract available. DOI 10.1038/s12276-024-01247-6   Pubmed Link
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25.03.2024

Gene therapy for deafness: are we there now?

Authors Moser T, Chen H, Kusch K, Behr R, Vona B   Journal EMBO Molecular Medicine   Citation EMBO Mol Med. 2024 Mar 25.   Abstract No abstract available.   DOI 10.1038/s44321-024-00058-6   Pubmed Link
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20.03.2024

METTL3-dependent m6A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway

Authors Ma L, Zhou X, Yao S, Zhang X, Mao J, Vona B, Fan L, Lou S, Li D, Wang L, Pan Y   Journal Cell Death & Disease   Citation Cell Death Dis 15, 229 (2024).   Abstract Craniofacial malformations, often associated with syndromes, are prevalent birth defects. Emerging
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13.03.2024

Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Authors 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
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08.12.2023

Ca2+-binding to the C2E domain of otoferlin is required for hair cell exocytosis and hearing

Authors Chen H, Monga M, Fang Q, Slitin L, Neef J, Chepurwar SS, Mingroni Netto RC, Lezirovitz K, Tabith A Jr, Benseler F, Brose N, Kusch K, Wichmann C, Strenzke N, Vona B, Preobraschenski J, Moser T Journal Protein & Cell Citation Protein & Cell. 2023 Dec 8:pwad058. accepted manuscript.
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29.11.2023

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Authors Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG, Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB,
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21.11.2023

Unraveling haplotype errors in the DFNA33 locus

Authors Vona B, Regele S, Rad A, Strenzke N, Pater JA, Neumann K, Sturm M, Haack TB, Am Zehnhoff-Dinnesen AG Journal Frontiers in Genetics Citation Front. Genet. 14:1214736. Abstract Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic
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10.11.2023

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Authors Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Ghayoor Karimiani E, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Akay Tayfun
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14.09.2022

Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case

Authors Yao S, Zhou X, Vona B, Fan L, Zhang C, Li D, Yuan H, Du Y, Ma L, Pan Y Journal International Journal of Molecular Sciences Citation Int J Mol Sci. 2022 Sep 14;23(18):10673. Abstract Skeletal Class III malocclusion with maxillary deficiency is a severe maxillofacial disease with unclear
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23.07.2022

GGPS1-associated muscular dystrophy with and without hearing loss

Authors Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H,
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