Search Results - "ROUX BUISSON, Nathalie"

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia by HAYASHI, Meiso, DENJOY, Isabelle, KAMBLOCK, Joël, MESSALI, Anne, GUICHENEY, Pascale, LUNARDI, Joël, LEENHARDT, Antoine, EXTRAMIANA, Fabrice, MALTRET, Alice, ROUX BUISSON, Nathalie, LUPOGLAZOFF, Jean-Marc, KLUG, Didier, HAYASHI, Miyuki, TAKATSUKI, Seiji, VILLAIN, Elisabeth

“…The pathophysiological background of catecholaminergic polymorphic ventricular tachycardia is well understood, but the clinical features of this stress-induced…”
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Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non‐obstructive azoospermia in an Iranian family by Amiri‐Yekta, Amir, Sen, Sharanya, Hazane‐Puch, Florence, Tebbakh, Célia, Roux‐Buisson, Nathalie, Cazin, Caroline, Thierry‐Mieg, Nicolas, Bouras, Ahmed, Mohammad Ali, Sadighi‐Gilani, Hosseini, Seyedeh‐Hanieh, Goodarzian, Maedeh, Gourabi, Hamid, Ray, Pierre F., Kherraf, Zine‐Eddine

“…Non‐obstructive azoospermia (NOA) resulting from primary spermatogenic failure represents one of the most severe forms of male infertility, largely because…”
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Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening by Roux-Buisson, Nathalie, MD, PhD, Gandjbakhch, Estelle, MD, PhD, Donal, Erwan, MD, PhD, Probst, Vincent, MD, PhD, Deharo, Jean-Claude, MD, Chevalier, Philippe, MD, PhD, Klug, Didier, MD, Mansencal, Nicolas, MD, PhD, Delacretaz, Etienne, MD, PhD, Cosnay, Pierre, MD, Scanu, Patrice, MD, Extramiana, Fabrice, MD, PhD, Keller, Dagmar, MD, Hidden-Lucet, Françoise, MD, Trapani, Jonathan, Fouret, Pierre, MD, PhD, Frank, Robert, MD, Fressart, Veronique, MD, PhD, Fauré, Julien, PhD, Lunardi, Joel, PharmD, PhD, Charron, Philippe, MD, PhD

“…Background Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic disease predominantly caused by desmosomal gene mutations that…”
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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene by ROORYCK, CAROLINE, KYNDT, FLORENCE, BOZON, DOMINIQUE, ROUX-BUISSON, NATHALIE, SACHER, FREDERIC, PROBST, VINCENT, THAMBO, JEAN-BENOIT

“…Sudden Death Linked to the Triadin Gene We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene…”
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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy by Ader, Flavie, Jedraszak, Guillaume, Janin, Alexandre, Billon, Clarisse, Buisson, Nathalie Roux, Bloch, Adrien, Bensalah, Meriem, De Sandre‐Giovannoli, Anachiara, Goudal, Adeline, Marsili, Luisa, Cazeneuve, Cécile, Charron, Philippe, Millat, Gilles, Richard, Pascale

“…Biallelic disease‐causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown…”
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Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice by Fressart, Veronique, Duthoit, Guillaume, Donal, Erwan, Probst, Vincent, Deharo, Jean-Claude, Chevalier, Philippe, Klug, Didier, Dubourg, Olivier, Delacretaz, Etienne, Cosnay, Pierre, Scanu, Patrice, Extramiana, Fabrice, Keller, Dagmar, Hidden-Lucet, Françoise, Simon, Françoise, Bessirard, Vanessa, Roux-Buisson, Nathalie, Hebert, Jean-Louis, Azarine, Arshid, Casset-Senon, Daniele, Rouzet, François, Lecarpentier, Yves, Fontaine, Guy, Coirault, Catherine, Frank, Robert, Hainque, Bernard, Charron, Philippe

“…Five desmosomal genes have been recently implicated in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) but the clinical impact of genetics…”
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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 by Bakri, Faris Ghalib, Mollin, Michelle, Beaumel, Sylvain, Vigne, Bénédicte, Roux-Buisson, Nathalie, Al-Wahadneh, Adel Mohammed, Alzyoud, Raed Mohammed, Hayajneh, Wail Ahmad, Daoud, Ammar Khaled, Shukair, Mohammed Elian Abu, Karadshe, Mansour Fuad, Sarhan, Mahmoud Mohammad, Al-Ramahi, Jamal Ahmad Wadi, Fauré, Julien, Rendu, John, Stasia, Marie Jose

“…Chronic granulomatous Disease (CGD) is a rare innate immunodeficiency disorder caused by mutations in one of the six genes ( , and /EROS) encoding the…”
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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome by Le Tanno, Pauline, Folacci, Mathilde, Revilloud, Jean, Faivre, Laurence, Laurent, Gabriel, Pinson, Lucile, Amedro, Pascal, Millat, Gilles, Janin, Alexandre, Vivaudou, Michel, Roux-Buisson, Nathalie, Fauré, Julien

“…Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by…”
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Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link? by Poussel, Mathias, Guerci, Philippe, Kaminsky, Pierre, Heymonet, Marie, Roux-Buisson, Nathalie, Faure, Julien, Fronzaroli, Emilien, Chenuel, Bruno

“…To describe the possible association (pathophysiologic and clinical features) between exertional heat stroke (EHS) and malignant hyperthermia (MH). Both EHS…”
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The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands by Hayashi, Miyuki, Denjoy, Isabelle, Hayashi, Meiso, Extramiana, Fabrice, Maltret, Alice, Roux-Buisson, Nathalie, Lupoglazoff, Jean-Marc, Klug, Didier, Maury, Philippe, Messali, Anne, Guicheney, Pascale, Leenhardt, Antoine

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmic disorder with a highly malignant clinical course. Exercise-stress test…”
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Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management by Roux-Buisson, Nathalie, Rendu, John, Denjoy, Isabelle, Guicheney, Pascale, Goldenberg, Alice, David, Nadine, Faivre, Laurence, Barthez, Olivier, Danieli, Gian Antonio, Marty, Isabelle, Lunardi, Joel, Fauré, Julien

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form,…”
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International Triadin Knockout Syndrome Registry by Clemens, Daniel J, Tester, David J, Giudicessi, John R, Bos, J Martijn, Rohatgi, Ram K, Abrams, Dominic J, Balaji, Seshadri, Crotti, Lia, Faure, Julien, Napolitano, Carlo, Priori, Silvia G, Probst, Vincent, Rooryck-Thambo, Caroline, Roux-Buisson, Nathalie, Sacher, Frederic, Schwartz, Peter J, Silka, Michael J, Walsh, Mark A, Ackerman, Michael J

“…Triadin knockout syndrome (TKOS) is a rare, inherited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin. Based previously…”
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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human by ROUX-BUISSON, Nathalie, CACHEUX, Marine, LE MAREC, Herve, LUCET, Vincent, MABO, Philippe, PROBST, Vincent, MONNIER, Nicole, RAY, Pierre F, SANTONI, Elodie, TREMEAUX, Pauline, LACAMPAGNE, Alain, FAURE, Julien, FOUREST-LIEUVIN, Anne, LUNARDI, Joël, MARTY, Isabelle, FAUCONNIER, Jeremy, BROCARD, Julie, DENJOY, Isabelle, DURAND, Philippe, GUICHENEY, Pascale, KYNDT, Florence, LEENHARDT, Antoine

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease so far related to mutations in the cardiac ryanodine…”
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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse by Cacheux, Marine, Fauconnier, Jérémy, Thireau, Jérôme, Osseni, Alexis, Brocard, Jacques, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

“…Recessive forms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are induced by mutations in genes encoding triadin or calsequestrin, two…”
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Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT by Cacheux, Marine, Thireau, Jérôme, Fauconnier, Jérémy, Osseni, Alexis, Roux-Buisson, Nathalie, Brocard, Julie, Fauré, Julien, Lacampagne, Alain, Marty, Isabelle

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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 by Maltret, Alice, Benaich, Fatima Azzahrae, Rendu, John, Fressart, Véronique, Roux-Buisson, Nathalie, Bonnet, Damien, Denjoy, Isabelle

“…Abstract Background Calmodulinopathy is an emerging group of primary electrical disease with various, severe, and early onset phenotype. Sudden cardiac arrest…”
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Variations in the TRPV1 gene are associated to exertional heat stroke by Bosson, Caroline, Rendu, John, Pelletier, Laurent, Abriat, Amandine, Chatagnon, Amandine, Brocard, Julie, Brocard, Jacques, Figarella-Branger, Dominique, Ducreux, Sylvie, van Coppenolle, Fabien, Sagui, Emmanuel, Marty, Isabelle, Roux-Buisson, Nathalie, Faure, Julien

“…Exertional Heat Stroke (EHS) is one of the top three causes of sudden death in athletes. Extrinsic and intrinsic risk factors have been identified but the…”
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Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB by Mollin, M., Beaumel, S., Vigne, B., Brault, J., Roux‐Buisson, N., Rendu, J., Barlogis, V., Catho, G., Dumeril, C., Fouyssac, F., Monnier, D., Gandemer, V., Revest, M., Brion, J.‐P., Bost‐Bru, C., Jeziorski, E., Eitenschenck, L., Jarrasse, C., Drillon Haus, S., Houachée‐Chardin, M., Hancart, M., Michel, G., Bertrand, Y., Plantaz, D., Kelecic, J., Traberg, R., Kainulainen, L., Fauré, J., Fieschi, F., Stasia, M. J.

“…Sixteen CGD cases were clinically, functionally and genetically characterized and classified as suffering from different variant forms (X910, X91− or X91+)…”
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Management of malignant hyperthermia in France: Current organisation by Julien Marsollier, Florence, Roux-Buisson, Nathalie, Dalmas, Anne-Frederique, Bruneau, Beatrice, Dahmani, Souhayl

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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 by Maltret, Alice, Benaich, Fatima Azzahrae, Rendu, John, Fressart, Véronique, Roux-Buisson, Nathalie, Bonnet, Damien, Denjoy, Isabelle

“…Abstract Background Calmodulinopathy is an emerging group of primary electrical disease with various, severe, and early onset phenotype. Sudden cardiac arrest…”
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