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Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights from Genetic Testing.

Flavie Ader, Elodie Surget, Philippe Charron, Alban Redheuil, Amir Zouaghi, Alice Maltret, Eloi Marijon, Isabelle Denjoy, Alexis Hermida, Véronique Fressart, Estelle Gandjbakhch,

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2020, :]

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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.

Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Aurélien Palmyre, Alexandre Moerman, Annick Toutain, Linda Akloul, Anne-Claire Brehin, Caroline Sawka, Caroline Rooryck-Thambo, Elise Schaefer, Karine Nguyen, Delphine Dupin Deguine, Cécile Rouzier, Gipsy Billy, Krystelle Séné, Isabelle Denjoy, Bruno Leheup, Marc Planes, Jean-Michael Mazzella, Stéphanie Staraci, Mélanie Hebert, Elsa Le Boette, Claire-Cécile Michon, Marie-Lise Babonneau, Angélique Curjol, Amine Bekhechi, Rafik Mansouri, Ibticem Raji, Jean-François Pruny, Véronique Fressart, Flavie Ader, Pascale Richard, Sophie Tezenas du Montcel, Marcela Gargiulo, Philippe Charron,

Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using self-report questionnaires (including the State-Trait Anxiety Inventory) in 517 adults, administered three times ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(5):]

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Genome wide association analysis in dilated cardiomyopathy reveals two new key players in systolic heart failure on chromosome 3p25.1 and 22q11.23

Sophie Garnier, Magdalena Harakalova, Stefan Weiss, Michal Mokry, Vera Regitz-Zagrosek, Christian Hengstenberg, Thomas Cappola, Richard Isnard, Eloisa Arbustini, Stuart Cook, Jessica van Setten, Jörg Callis, Hakon Hakonarson, Michael Morley, Klaus Stark, Sanjay Prasad, Jin Li, Declan O’Regan, Maurizia Grasso, Martina Müller-Nurasyid, Thomas Meitinger, Jean-Philippe Empana, Konstantin Strauch, Mélanie Waldenberger, Kenneth Marguiles, Christine Seidman, Benjamin Meder, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Jeanette Erdman, Stefan Blankenberg, Thomas Wichter, Volker Ruppert, Luigi Tavazzi, Olivier Dubourg, Gerard Roizes, Richard Dorent, Pascal DeGroote, Laurent Fauchier, Jean-Noël Trochu, Jean-François Aupetit, Marine Germain, Uwe Völker, Hemerich Daiane, Ibticem Raji, Delphine Bacq-Daian, Carole Proust, Kristin Lehnert, Renee Maas, Robert Olaso, Ganapathivarma Saripella, Stephan Felix, Steven Mc Ginn, Laëtitia Duboscq-Bidot, Alain van Mil, Céline Besse, Vincent Fontaine, Hélène Blanché, Brendan Keating, Pablo Garcia-Pavia, Angélique Curjol, Anne Boland, Michel Komajda, François Cambien, Jean-François Deleuze, Marcus Dörr, Folkert Asselbergs, Eric Villard, David-Alexandre Trégouët, Philippe Charron, ,

Summary We present the results of the largest genome wide association study (GWAS) performed so far in dilated cardiomyopathy (DCM), a leading cause of systolic heart failure and cardiovascular death, with 2,719 cases and 4,440 controls in the discovery population. We identified and replicated two new DCM-associated loci, one on ... Read more >>

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The Public Health Burden of Cardiomyopathies: Insights from a Nationwide Inpatient Study.

Simon Lannou, Nicolas Mansencal, Cécile Couchoud, Mathilde Lassalle, Olivier Dubourg, Bénédicte Stengel, Christian Jacquelinet, Philippe Charron,

Cardiomyopathies are responsible for heart failure and sudden cardiac death, but epidemiological data are scarce and the public health burden may be underestimated. We studied aggregating data from all public or private hospitals in France. Patients were categorized from relevant ICD-10 codes into dilated, hypertrophic, restrictive, or other cardiomyopathies (DCM, ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(4):]

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Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.

Alexia Vite, Estelle Gandjbakhch, Tiphaine Hery, Veronique Fressart, Francoise Gary, Francoise Simon, Shaida Varnous, Francoise Hidden Lucet, Philippe Charron, Eric Villard,

AIMS:Desmoglein-2 (DSG2) mutations, which encode a heart-specific cadherin crucial for desmosomal adhesion, are frequent in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). DSG2 mutations have been associated with higher risk of biventricular involvement. Among DSG2 mutations, mutations of the inhibitory propeptide consensus cleavage-site (Arg-X-Arg/Lys-Arg), are particularly frequent. In the present work, we ... Read more >>

Europace (Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology)
[2020, 22(2):320-329]

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Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy.

Ulrike Esslinger, Sophie Garnier, Agathe Korniat, Carole Proust, Georgios Kararigas, Martina Müller-Nurasyid, Jean-Philippe Empana, Michael P Morley, Claire Perret, Klaus Stark, Alexander G Bick, Sanjay K Prasad, Jennifer Kriebel, Jin Li, Laurence Tiret, Konstantin Strauch, Declan P O'Regan, Kenneth B Marguiles, Jonathan G Seidman, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Christian Hengstenberg, Michel Komajda, Hakon Hakonarson, Richard Isnard, Eloisa Arbustini, Harald Grallert, Stuart A Cook, Christine E Seidman, Vera Regitz-Zagrosek, Thomas P Cappola, Philippe Charron, François Cambien, Eric Villard,

[This corrects the article DOI: 10.1371/journal.pone.0172995.]. ... Read more >>

PLoS ONE (PloS one)
[2020, 15(2):e0229472]

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Global and regional echocardiographic strain to assess the early phase of hypertrophic cardiomyopathy due to sarcomeric mutations.

Guillaume Baudry, Nicolas Mansencal, Amelie Reynaud, Pascale Richard, Olivier Dubourg, Michel Komajda, Richard Isnard, Patricia Réant, Philippe Charron,

AIMS:Hypertrophic cardiomyopathy (HCM) is a genetic disease with delayed cardiac expression. Our objective was to characterize left ventricular (LV) myocardial strain by two-dimensional echocardiography in sarcomeric mutation carriers before the hypertrophic stage. METHODS AND RESULTS:We studied 140 adults [derivation cohort (n = 79), validation cohort (n = 61)]. The derivation cohort comprised 38 confirmed ... Read more >>

Eur Heart J Cardiovasc Imaging (European heart journal cardiovascular Imaging)
[2020, 21(3):291-298]

Cited: 1 time

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Higher prevalence of splenic artery aneurysms in hereditary hemorrhagic telangiectasia: Vascular implications and risk factors.

Jacques Sellier, Carma Karam, Alain Beauchet, Axel Dallongeville, Stephen Binsse, Sandra Blivet, Isabelle Bourgault-Villada, Philippe Charron, Thierry Chinet, Mélanie Eyries, Carole Fagnou, Jérome Lesniak, Gilles Lesur, Jérome Lucas, Agnès Nicod-Tran, Augustin Ozanne, Aurélien Palmyre, Florent Soubrier, Mostafa El Hajjam, Pascal Lacombe,

BACKGROUND:Splenic artery aneurysm (SAA) is a rare but potentially fatal condition. Rupture results in 25% mortality up to 75% in pregnant women with 95% fetal mortality. Brief reports suggest an increased risk of developing SAA in patients with HHT. METHODS:We analyzed enhanced multidetector CT data in 186 HHT patients matched ... Read more >>

PLoS ONE (PloS one)
[2020, 15(1):e0226681]

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Multimodality imaging in the diagnosis, risk stratification, and management of patients with dilated cardiomyopathies: an expert consensus document from the European Association of Cardiovascular Imaging.

Erwan Donal, Victoria Delgado, Chiara Bucciarelli-Ducci, Elena Galli, Kristina H Haugaa, Philippe Charron, Jens-Uwe Voigt, Nuno Cardim, P G Masci, Maurizio Galderisi, Oliver Gaemperli, Alessia Gimelli, Yigal M Pinto, Patrizio Lancellotti, Gilbert Habib, Perry Elliott, Thor Edvardsen, Bernard Cosyns, Bogdan A Popescu, ,

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular or biventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions or coronary artery disease sufficient to explain these changes. This is a heterogeneous disease frequently having a genetic background. Imaging is important for the diagnosis, the ... Read more >>

Eur Heart J Cardiovasc Imaging (European heart journal cardiovascular Imaging)
[2019, 20(10):1075-1093]

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Mid-regional proatrial natriuretic peptide for predicting prognosis in hypertrophic cardiomyopathy.

Céline Bégué, Stellan Mörner, Dulce Brito, Christian Hengstenberg, John G F Cleland, Eloisa Arbustini, Enrique Galve, Thomas Wichter, Anette Richter, Jean-Louis Golmard, Maguy Bernard, Olivier Dubourg, Michel Komajda, Philippe Charron, Richard Isnard,

OBJECTIVES:N-terminal probrain natriuretic peptide (NT-proBNP) predicts mortality and the development of heart failure in hypertrophic cardiomyopathy (HCM). Mid-regional proatrial natriuretic peptide (MR-proANP) is a stable by-product of production of atrial natriuretic peptide. We sought to compare the prognostic value of MR-proANP and NT-proBNP in HCM. METHODS:We prospectively enrolled a cohort ... Read more >>

Heart (Heart (British Cardiac Society))
[2020, 106(3):196-202]

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Flavie Ader, Pascal De Groote, Patricia Réant, Caroline Rooryck-Thambo, Delphine Dupin-Deguine, Caroline Rambaud, Diala Khraiche, Claire Perret, Jean François Pruny, Michèle Mathieu-Dramard, Marion Gérard, Yann Troadec, Laurent Gouya, Xavier Jeunemaitre, Lionel Van Maldergem, Albert Hagège, Eric Villard, Philippe Charron, Pascale Richard,

Pathogenic variants in FLNC encoding filamin C have been firstly reported to cause myopathies, and were recently linked to isolated cardiac phenotypes. Our aim was to estimate the prevalence of FLNC pathogenic variants in subtypes of cardiomyopathies and to study the relations between phenotype and genotype. DNAs from a cohort ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 96(4):317-329]

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Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy.

Foudil Lamari, Wladimir Mauhin, Fairouz Koraichi, Walid Khrouf, Celine Bordet, Jonathan London, Olivier Lidove, Philippe Charron,

BACKGROUND:Fabry disease (OMIM 301500) is an X-linked disorder caused by alpha-galactosidase A (α-Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize organ damages and reduce lyso-Gb3 plasma level. An increase of α-Gal A activity has been ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2019, 7(9):e894]

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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Neal K Lakdawala, Caroline Stalens, Frédéric Sacher, Dominique Babuty, Jean-Noel Trochu, Ghassan Moubarak, Kostantinos Savvatis, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Eloi Marijon, Tanya Stojkovic, Anthony Béhin, Sarah Leonard-Louis, Guilhem Sole, Fabien Labombarda, Pascale Richard, Corinne Metay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Marie-Christine Vantyghem, Philippe Chevalier, Pierre Ambrosi, Emmanuelle Salort, Nicolas Sadoul, Xavier Waintraub, Khadija Chikhaoui, Philippe Mabo, Nicolas Combes, Philippe Maury, Jean-Marc Sellal, Usha B Tedrow, Jonathan M Kalman, Jitendra Vohra, Alexander F A Androulakis, Katja Zeppenfeld, Tina Thompson, Christine Barnerias, Henri-Marc Bécane, Eric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Stéphane Boulé, Anne-Claire Brehin, Françoise Chapon, Pascal Cintas, Jean-Marie Cuisset, Jean-Marc Davy, Annachiara De Sandre-Giovannoli, Florence Demurger, Isabelle Desguerre, Klaus Dieterich, Julien Durigneux, Andoni Echaniz-Laguna, Romain Eschalier, Ana Ferreiro, Xavier Ferrer, Christine Francannet, Mélanie Fradin, Bénédicte Gaborit, Arnaud Gay, Albert Hagège, Arnaud Isapof, Isabelle Jeru, Raul Juntas Morales, Emmanuelle Lagrue, Nicolas Lamblin, Olivier Lascols, Vincent Laugel, Arnaud Lazarus, France Leturcq, Nicolas Levy, Armelle Magot, Véronique Manel, Raphaël Martins, Michèle Mayer, Sandra Mercier, Christophe Meune, Maud Michaud, Marie-Christine Minot-Myhié, Antoine Muchir, Aleksandra Nadaj-Pakleza, Yann Péréon, Philippe Petiot, Florence Petit, Julien Praline, Anne Rollin, Pascal Sabouraud, Catherine Sarret, Stéphane Schaeffer, Frederic Taithe, Céline Tard, Vincent Tiffreau, Annick Toutain, Camille Vatier, Ulrike Walther-Louvier, Bruno Eymard, Philippe Charron, Corinne Vigouroux, Gisèle Bonne, Saurabh Kumar, Perry Elliott, Denis Duboc,

BACKGROUND:An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. METHODS:We included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries, ... Read more >>

Circulation (Circulation)
[2019, 140(4):293-302]

Cited: 2 times

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European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.

Florence Fellmann, Carla G van El, Philippe Charron, Katarzyna Michaud, Heidi C Howard, Sarah N Boers, Angus J Clarke, Anne-Marie Duguet, Francesca Forzano, Silke Kauferstein, Hülya Kayserili, Anneke Lucassen, Álvaro Mendes, Christine Patch, Dragica Radojkovic, Emmanuelle Rial-Sebbag, Mary N Sheppard, Anne-Marie Tassé, Sehime G Temel, Antti Sajantila, Cristina Basso, Arthur A M Wilde, Martina C Cornel, ,

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2019, 27(12):1763-1773]

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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy.

Karine Nguyen, Stéphane Roche, Erwan Donal, Sylvie Odent, Jean-Christophe Eicher, Laurence Faivre, Gilles Millat, David Salgado, Jean-Pierre Desvignes, Cécile Lavoute, Julie Haentjens, Émilie Consolino, Alexandre Janin, Mathieu Cerino, Patricia Réant, Caroline Rooryck, Philippe Charron, Pascale Richard, Anne-Claire Casalta, Nicolas Michel, Frédérique Magdinier, Christophe Béroud, Nicolas Lévy, Gilbert Habib,

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2019, 12(5):e002500]

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Heritability in genetic heart disease: the role of genetic background.

Joeri A Jansweijer, Karin Y van Spaendonck-Zwarts, Michael W T Tanck, J Peter van Tintelen, Imke Christiaans, Jasper van der Smagt, Alexa Vermeer, J Martijn Bos, Arthur J Moss, Heikki Swan, Sylvia G Priori, Annika Rydberg, Jacob Tfelt-Hansen, Michael J Ackerman, Iacopo Olivotto, Philippe Charron, Juan R Gimeno, Maarten van den Berg, Arthur A M Wilde, Yigal M Pinto,

Background:Mutations in genes encoding ion channels or sarcomeric proteins are an important cause of hereditary cardiac disease. However, the severity of the resultant disease varies considerably even among those with an identical mutation. Such clinical variation is often thought to be explained largely by differences in genetic background or 'modifier ... Read more >>

Open Heart (Open heart)
[2019, 6(1):e000929]

Cited: 1 time

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High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Alexis Hermida, Véronique Fressart, Francoise Hidden-Lucet, Erwan Donal, Vincent Probst, Jean-Claude Deharo, Philippe Chevalier, Didier Klug, Nicolas Mansencal, Etienne Delacretaz, Pierre Cosnay, Patrice Scanu, Fabrice Extramiana, Dagmar I Keller, Stephanie Rouanet, Philippe Charron, Estelle Gandjbakhch,

BACKGROUND:Previous studies suggested that genetic status affects the clinical course of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients. The aim of this study was to compare the outcome of desmoglein-2 (DSG2) mutation carriers to those who carry the plakophilin-2 (PKP2) mutation, the most common ARVC/D-associated gene. METHODS AND RESULTS:Consecutive ARVC/D patients ... Read more >>

Eur. J. Heart Fail. (European journal of heart failure)
[2019, 21(6):792-800]

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External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers.

Marine Thuillot, Carole Maupain, Estelle Gandjbakhch, Xavier Waintraub, Françoise Hidden-Lucet, Richard Isnard, Flavie Ader, Stephanie Rouanet, Pascale Richard, Philippe Charron,

Eur. J. Heart Fail. (European journal of heart failure)
[2019, 21(2):253-254]

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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Pascale Richard, Flavie Ader, Maguelonne Roux, Erwan Donal, Jean-Christophe Eicher, Nadia Aoutil, Olivier Huttin, Christine Selton-Suty, Damien Coisne, Guillaume Jondeau, Thibaud Damy, Nicolas Mansencal, Anne-Claire Casalta, Nicolas Michel, Julie Haentjens, Laurence Faivre, Cecile Lavoute, Karine Nguyen, David-Alexandre Tregouët, Gilbert Habib, Philippe Charron,

Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 95(3):356-367]

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[Genotype-phenotype correlations of pathogenic variants in the FLNC gene].

Flavie Ader, Eric Villard, Céline Ledeuil, Philippe Charron, Pascale Richard,

Med Sci (Paris) (Medecine sciences : M/S)
[2018, 34 Hors série n°2:39-41]

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Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY).

Mariana Mirabel, Thibaud Damy, Erwan Donal, Olivier Huttin, Fabien Labombarda, Jean-Christophe Eicher, Claudio Cervino, Marianna Laurito, Lucile Offredo, Muriel Tafflet, Xavier Jouven, Geltrude Giura, Michel Desnos, Xavier Jeunemaître, Jean-Philippe Empana, Philippe Charron, Gilbert Habib, Patricia Réant, Albert Hagège, ,

BACKGROUND:Our knowledge of hypertrophic cardiomyopathy (HCM) mainly originates from quarternary centres. The objective is to assess the current management of HCM patients in a large multicentre French register according to the level of expertise. METHODS AND RESULTS:A total of 1431 HCM patients were recruited across 26 (11 expert and 15 ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2019, 275:107-113]

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Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

Fernando Domínguez, Sofía Cuenca, Zofia Bilińska, Rocío Toro, Eric Villard, Roberto Barriales-Villa, Juan Pablo Ochoa, Folkert Asselbergs, Arjan Sammani, Maria Franaszczyk, Mohammed Akhtar, Maria José Coronado-Albi, Diego Rangel-Sousa, Jose F Rodriguez-Palomares, Juan Jiménez-Jáimez, José Manuel Garcia-Pinilla, Tomás Ripoll-Vera, Maria Victoria Mogollón-Jiménez, Ana Fontalba-Romero, Dolores Garcia-Medina, Julian Palomino-Doza, David de Gonzalo-Calvo, Marcos Cicerchia, Joel Salazar-Mendiguchia, Clara Salas, Sabine Pankuweit, Thomas Morris Hey, Jens Mogensen, Paul J Barton, Philippe Charron, Perry Elliott, Pablo Garcia-Pavia, ,

BACKGROUND:The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. OBJECTIVES:This study sought ... Read more >>

J. Am. Coll. Cardiol. (Journal of the American College of Cardiology)
[2018, 72(20):2471-2481]

Cited: 7 times

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Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.

Jeremiah Hadwen, Sarah Schock, Alan Mears, Robert Yang, Philippe Charron, Liying Zhang, Hualin S Xi, Alex MacKenzie,

Rare monogenic diseases affect millions worldwide; although over 4500 rare disease genotypes are known, disease-modifying drugs are available for only 5% of them. The sheer number of these conditions combined with their rarity precludes traditional costly drug discovery programs. An economically viable alternative is to repurpose established drugs for rare ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2018, 27(18):3206-3217]

Cited: 1 time

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Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: JACC State-of-the-Art Review.

Estelle Gandjbakhch, Alban Redheuil, Françoise Pousset, Philippe Charron, Robert Frank,

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiomyopathy that can lead to sudden cardiac death and heart failure. Our understanding of its pathophysiology and clinical expressivity is continuously evolving. The diagnosis of ARVC/D remains particularly challenging due to the absence of specific unique diagnostic criteria, its variable expressivity, and ... Read more >>

J. Am. Coll. Cardiol. (Journal of the American College of Cardiology)
[2018, 72(7):784-804]

Cited: 5 times

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The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

Philippe Charron, Perry M Elliott, Juan R Gimeno, Alida L P Caforio, Juan Pablo Kaski, Luigi Tavazzi, Michal Tendera, Carole Maupain, Cécile Laroche, Pawel Rubis, Ruxandra Jurcut, Leonardo Calò, Tiina M Heliö, Gianfranco Sinagra, Marija Zdravkovic, Aušra Kavoliuniene, Stephan B Felix, Jacek Grzybowski, Maria-Angela Losi, Folkert W Asselbergs, José Manuel García-Pinilla, Joel Salazar-Mendiguchia, Katarzyna Mizia-Stec, Aldo P Maggioni, ,

Aims:The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. ... Read more >>

Eur. Heart J. (European heart journal)
[2018, 39(20):1784-1793]

Cited: 4 times

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