Delmaghani S - Search Results

1

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.

Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A. Dulon D, et al. Among authors: delmaghani s. J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9. J Clin Invest. 2018. PMID: 29985171 Free PMC article.

2

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Weil D, et al. Among authors: delmaghani s. Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051. Hum Mol Genet. 2003. PMID: 12588794

3

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, Lathrop M, Weil D, Petit C. Delmaghani S, et al. Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045. Eur J Hum Genet. 2003. PMID: 14512974

4

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. Delmaghani S, et al. Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25. Nat Genet. 2006. PMID: 16804542

5

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Delmaghani S, et al. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678063

6

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. Delmaghani S, et al. Cell. 2015 Nov 5;163(4):894-906. doi: 10.1016/j.cell.2015.10.023. Cell. 2015. PMID: 26544938 Free article.

7

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 Free PMC article.

8

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.

Defourny J, Aghaie A, Perfettini I, Avan P, Delmaghani S, Petit C. Defourny J, et al. Among authors: delmaghani s. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):8010-8017. doi: 10.1073/pnas.1821844116. Epub 2019 Apr 1. Proc Natl Acad Sci U S A. 2019. PMID: 30936319 Free PMC article.

9

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. Among authors: delmaghani s. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.

10

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges.

Delmaghani S, El-Amraoui A. Delmaghani S, et al. J Clin Med. 2020 Jul 21;9(7):2309. doi: 10.3390/jcm9072309. J Clin Med. 2020. PMID: 32708116 Free PMC article. Review.

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