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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Among authors: vitry s. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.
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: vitry s. 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.
alpha-L-Iduronidase transport in neurites.
Chen F, Vitry S, Hocquemiller M, Desmaris N, Ausseil J, Heard JM. Chen F, et al. Among authors: vitry s. Mol Genet Metab. 2006 Apr;87(4):349-58. doi: 10.1016/j.ymgme.2005.11.017. Epub 2006 Jan 24. Mol Genet Metab. 2006. PMID: 16439176
28 results