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Page 1
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Angebault C, et al. Among authors: talmat amar y. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Am J Hum Genet. 2015. PMID: 26593267 Free PMC article.
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H, Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P. Boizot A, et al. Among authors: talmat amar y. Acta Neuropathol Commun. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47. Acta Neuropathol Commun. 2014. PMID: 24758703 Free PMC article.
A huntingtin peptide inhibits polyQ-huntingtin associated defects.
Arribat Y, Bonneaud N, Talmat-Amar Y, Layalle S, Parmentier ML, Maschat F. Arribat Y, et al. Among authors: talmat amar y. PLoS One. 2013 Jul 4;8(7):e68775. doi: 10.1371/journal.pone.0068775. Print 2013. PLoS One. 2013. PMID: 23861941 Free PMC article.
Systemic delivery of P42 peptide: a new weapon to fight Huntington's disease.
Arribat Y, Talmat-Amar Y, Paucard A, Lesport P, Bonneaud N, Bauer C, Bec N, Parmentier ML, Benigno L, Larroque C, Maurel P, Maschat F. Arribat Y, et al. Among authors: talmat amar y. Acta Neuropathol Commun. 2014 Aug 5;2:86. doi: 10.1186/s40478-014-0086-x. Acta Neuropathol Commun. 2014. PMID: 25091984 Free PMC article.