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Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Luscan R, et al. Among authors: paul a. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.10.010. Epub 2017 Nov 30. Am J Hum Genet. 2017. PMID: 29198720 Free PMC article.
Unilateral Sensorineural Hearing Loss: Medical Context and Etiology.
Paul A, Marlin S, Parodi M, Rouillon I, Guerlain J, Pingault V, Couloigner V, Garabedian EN, Denoyelle F, Loundon N. Paul A, et al. Audiol Neurootol. 2017;22(2):83-88. doi: 10.1159/000474928. Epub 2017 Jul 22. Audiol Neurootol. 2017. PMID: 28738350
Desmoid-type fibromatosis of the head and neck in children: A changing situation.
Paul A, Blouin MJ, Minard-Colin V, Galmiche L, Coulomb A, Corradini N, Boutroux H, Van den Abbeele T, Leboulanger N, Denoyelle F, Garabedian EN, Couloigner V, Orbach D. Paul A, et al. Int J Pediatr Otorhinolaryngol. 2019 Aug;123:33-37. doi: 10.1016/j.ijporl.2019.04.037. Epub 2019 Apr 26. Int J Pediatr Otorhinolaryngol. 2019. PMID: 31059930
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A, Drecourt A, Petit F, Deguine DD, Vasnier C, Oufadem M, Masson C, Bonnet C, Masmoudi S, Mosnier I, Mahieu L, Bouccara D, Kaplan J, Challe G, Domange C, Mochel F, Sterkers O, Gerber S, Nitschke P, Bole-Feysot C, Jonard L, Gherbi S, Mercati O, Ben Aissa I, Lyonnet S, Rötig A, Delahodde A, Marlin S. Paul A, et al. Am J Hum Genet. 2017 Oct 5;101(4):630-637. doi: 10.1016/j.ajhg.2017.09.007. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965846 Free PMC article.