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Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young: a case series of catecholaminergic polymorphic ventricular tachycardia secondary to de novo calmodulin p.Asn98Ser.
Maltret A, Benaich FA, Rendu J, Fressart V, Roux-Buisson N, Bonnet D, Denjoy I. Maltret A, et al. Among authors: roux buisson n. Eur Heart J Case Rep. 2021 Oct 5;5(10):ytab393. doi: 10.1093/ehjcr/ytab393. eCollection 2021 Oct. Eur Heart J Case Rep. 2021. PMID: 34729453 Free PMC article.
Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.
Roux-Buisson N, Gandjbakhch E, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Trapani J, Fouret P, Frank R, Fressart V, Fauré J, Lunardi J, Charron P. Roux-Buisson N, et al. Heart Rhythm. 2014 Nov;11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020. Epub 2014 Jul 17. Heart Rhythm. 2014. PMID: 25041964 Free article.
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.
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V, Duthoit G, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Dubourg O, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Simon F, Bessirard V, Roux-Buisson N, Hebert JL, Azarine A, Casset-Senon D, Rouzet F, Lecarpentier Y, Fontaine G, Coirault C, Frank R, Hainque B, Charron P. Fressart V, et al. Europace. 2010 Jun;12(6):861-8. doi: 10.1093/europace/euq104. Epub 2010 Apr 16. Europace. 2010. PMID: 20400443
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A. Witting N, et al. Among authors: roux buisson n. Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29. Acta Neurol Scand. 2018. PMID: 29635721
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.
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