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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I. Roux-Buisson N, et al. Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422768 Free PMC article.
Variations in the TRPV1 gene are associated to exertional heat stroke.
Bosson C, Rendu J, Pelletier L, Abriat A, Chatagnon A, Brocard J, Brocard J, Figarella-Branger D, Ducreux S, van Coppenolle F, Sagui E, Marty I, Roux-Buisson N, Faure J. Bosson C, et al. Among authors: roux buisson n. J Sci Med Sport. 2020 Nov;23(11):1021-1027. doi: 10.1016/j.jsams.2020.04.018. Epub 2020 May 18. J Sci Med Sport. 2020. PMID: 32471784
International Triadin Knockout Syndrome Registry.
Clemens DJ, Tester DJ, Giudicessi JR, Bos JM, Rohatgi RK, Abrams DJ, Balaji S, Crotti L, Faure J, Napolitano C, Priori SG, Probst V, Rooryck-Thambo C, Roux-Buisson N, Sacher F, Schwartz PJ, Silka MJ, Walsh MA, Ackerman MJ. Clemens DJ, et al. Among authors: roux buisson n. Circ Genom Precis Med. 2019 Feb;12(2):e002419. doi: 10.1161/CIRCGEN.118.002419. Circ Genom Precis Med. 2019. PMID: 30649896 Free article.
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Le Tanno P, Folacci M, Revilloud J, Faivre L, Laurent G, Pinson L, Amedro P, Millat G, Janin A, Vivaudou M, Roux-Buisson N, Fauré J. Le Tanno P, et al. Among authors: roux buisson n. Front Genet. 2021 Nov 25;12:773177. doi: 10.3389/fgene.2021.773177. eCollection 2021. Front Genet. 2021. PMID: 34899860 Free PMC article.
Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].
Rendu J, Bosson C, Roux-Buisson N, Chatagnon A, Bankole B, Rivier F, Durigneux J, Monges S, Stojkovic T, Romero N, Marty I, Fauré J. Rendu J, et al. Neuromuscul Disord. 2017 Nov;27(11):e1. doi: 10.1016/j.nmd.2017.09.014. Epub 2017 Oct 21. Neuromuscul Disord. 2017. PMID: 29033277 No abstract available.
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG, Mollin M, Beaumel S, Vigne B, Roux-Buisson N, Al-Wahadneh AM, Alzyoud RM, Hayajneh WA, Daoud AK, Shukair MEA, Karadshe MF, Sarhan MM, Al-Ramahi JAW, Fauré J, Rendu J, Stasia MJ. Bakri FG, et al. Among authors: roux buisson n. Front Immunol. 2021 Mar 5;12:639226. doi: 10.3389/fimmu.2021.639226. eCollection 2021. Front Immunol. 2021. PMID: 33746979 Free PMC article.
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