Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease
Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse
Jaouadi, Hager, Théron, Alexis, Hourdain, Jérôme, Martel, Hélène, Nguyen, Karine, Habachi, Raja, Deharo, Jean-Claude, Collart, Frédéric, Avierinos, Jean-François, Zaffran, Stéphane
Published in International journal of molecular sciences (21.11.2022)
Published in International journal of molecular sciences (21.11.2022)
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
Morel, Victor, Audic, Frédérique, Tardy, Charlotte, Verschueren, Annie, Attarian, Shahram, Nguyen, Karine, Salort-Campana, Emmanuelle, Krahn, Martin, Chabrol, Brigitte, Gorokhova, Svetlana
Published in Frontiers in genetics (13.12.2023)
Published in Frontiers in genetics (13.12.2023)
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn
Published in Acta neuropathologica (01.12.2017)
Published in Acta neuropathologica (01.12.2017)
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Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy
Faignart, Nicole, Nguyen, Karine, Soroken, Cindy, Poloni, Claudia, Downs, Heather M., Laubscher, Bernard, Korff, Christian, Oaklander, Anne Louise, Roulet Perez, Eliane
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Journal Article
Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells
Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique
Published in Cells (Basel, Switzerland) (23.06.2020)
Published in Cells (Basel, Switzerland) (23.06.2020)
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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Salort-Campana, Emmanuelle, Fatehi, Farzad, Beloribi-Djefaflia, Sadia, Roche, Stéphane, Nguyen, Karine, Bernard, Rafaelle, Cintas, Pascal, Solé, Guilhem, Bouhour, Françoise, Ollagnon, Elisabeth, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Kuntzer, Thierry, Levy, Nicolas, Magdinier, Frédérique, Attarian, Shahram
Published in International journal of molecular sciences (23.03.2020)
Published in International journal of molecular sciences (23.03.2020)
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Journal Article
Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres
Laberthonnière, Camille, Novoa‐del‐Toro, Elva‐Maria, Delourme, Mégane, Chevalier, Raphaël, Broucqsault, Natacha, Mazaleyrat, Kilian, Streichenberger, Nathalie, Manel, Véronique, Bernard, Rafaëlle, Salort Campana, Emmanuelle, Attarian, Shahram, Nguyen, Karine, Robin, Jérôme D., Baudot, Anais, Magdinier, Frédérique
Published in Journal of cachexia, sarcopenia and muscle (01.02.2022)
Published in Journal of cachexia, sarcopenia and muscle (01.02.2022)
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A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy
Krahn, Martin, Wein, Nicolas, Bartoli, Marc, Lostal, William, Courrier, Sébastien, Bourg-Alibert, Nathalie, Nguyen, Karine, Vial, Christophe, Streichenberger, Nathalie, Labelle, Véronique, DePetris, Danielle, Pécheux, Christophe, Leturcq, France, Cau, Pierre, Richard, Isabelle, Lévy, Nicolas
Published in Science translational medicine (22.09.2010)
Published in Science translational medicine (22.09.2010)
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Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
Gerard, Hilla, Iline, Nicolas, Martel, Hélène, Nguyen, Karine, Richard, Pascale, Donal, Erwan, Eicher, Jean-Christophe, Huttin, Olivier, Selton-Suty, Christine, Raud-Raynier, Pascale, Jondeau, Guillaume, Mansencal, Nicolas, Sawka, Caroline, Ader, Flavie, Pruny, Jean-François, Casalta, Anne-Claire, Michel, Nicolas, Donghi, Valeria, Faivre, Laurence, Giorgi, Roch, Charron, Philippe, Habib, Gilbert
Published in Frontiers in cardiovascular medicine (02.05.2022)
Published in Frontiers in cardiovascular medicine (02.05.2022)
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Journal Article
AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome
Laberthonnière, Camille, Novoa-Del-Toro, Elva Maria, Chevalier, Raphaël, Broucqsault, Natacha, Rao, Vanitha Venkoba, Trani, Jean Philippe, Nguyen, Karine, Xue, Shifeng, Reversade, Bruno, Robin, Jérôme D, Baudot, Anais, Magdinier, Frédérique
Published in Biomedicines (29.06.2021)
Published in Biomedicines (29.06.2021)
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Journal Article
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Gaillard, Marie-Cécile, Puppo, Francesca, Roche, Stéphane, Dion, Camille, Campana, Emmanuelle Salort, Mariot, Virginie, Chaix, Charlene, Vovan, Catherine, Mazaleyrat, Killian, Tasmadjian, Armand, Bernard, Rafaelle, Dumonceaux, Julie, Attarian, Shahram, Lévy, Nicolas, Nguyen, Karine, Magdinier, Frédérique, Bartoli, Marc
Published in BMC medical genetics (15.09.2016)
Published in BMC medical genetics (15.09.2016)
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G
Published in Brain (London, England : 1878) (01.08.2014)
Published in Brain (London, England : 1878) (01.08.2014)
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Dysferlinopathies
Urtizberea, J. Andoni, Bassez, Guillaume, Leturcq, France, Nguyen, Karine, Krahn, Martin, Levy, Nicolas
Published in Neurology India (01.07.2008)
Published in Neurology India (01.07.2008)
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A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28
Villard, Laurent, Nguyen, Karine, Cardoso, Carlos, Martin, Christa Lese, Weiss, Ann M., Sifry-Platt, Mara, Grix, Arthur W., Graham, John M., Winter, Robin M., Leventer, Richard J., Dobyns, William B.
Published in American journal of human genetics (01.04.2002)
Published in American journal of human genetics (01.04.2002)
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Ejection Fraction Basal Strain Ratio: A New Composite Echocardiographic Deformation Parameter Allowing Differentiation of Cardiac Amyloidosis From Hypertrophic Cardiomyopathies
Martel, Hélène, Rique, Arnaud, Piazzai, Chiara, Mancini, Julien, Dumonceau, Robinson Gravier, Arregle, Florent, Dernys, Alexandra, Gardenat, Alienor, Casalta, Anne-Claire, Renard, Sébastien, Hubert, Sandrine, N’Guyen, Karine, Habib, Gilbert
Published in Journal of the American Society of Echocardiography (01.05.2023)
Published in Journal of the American Society of Echocardiography (01.05.2023)
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Left atrial dysfunction as marker of poor outcome in patients with hypertrophic cardiomyopathy
Essayagh, Benjamin, Resseguier, Noémie, Michel, Nicolas, Casalta, Anne-Claire, Renard, Sébastien, Donghi, Valeria, Carbone, Andreina, Piazzai, Chiara, Ambrosi, Pierre, Levy, Franck, Martel, Hélène, Gérard, Hilla, Avierinos, Jean-François, N’Guyen, Karine, Habib, Gilbert
Published in Archives of cardiovascular diseases (01.02.2021)
Published in Archives of cardiovascular diseases (01.02.2021)
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Journal Article
Association of Plasma Creatinine Phosphokinase Elevation and a History of Idiopathic Cardiomyopathy in Recipients of Heart Transplant
Ambrosi, Pierre, Riberi, Alberto, Attarian, Shahram, Nguyen, Karine, Guieu, Régis, Habib, Gilbert
Published in The American journal of cardiology (15.02.2024)
Published in The American journal of cardiology (15.02.2024)
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Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
du Montcel, Sophie Tezenas, Charles, Perrine, Ribai, Pascale, Goizet, Cyril, Le Bayon, Alice, Labauge, Pierre, Guyant-Maréchal, Lucie, Forlani, Sylvie, Jauffret, Celine, Vandenberghe, Nadia, N'Guyen, Karine, Le Ber, Isabelle, Devos, David, Vincitorio, Carlo-Maria, Manto, Mario-Ubaldo, Tison, François, Hannequin, Didier, Ruberg, Merle, Brice, Alexis, Durr, Alexandra
Published in Brain (London, England : 1878) (01.05.2008)
Published in Brain (London, England : 1878) (01.05.2008)
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Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases
Eyries, Mélanie, Montani, David, Nadaud, Sophie, Girerd, Barbara, Levy, Marilyne, Bourdin, Arnaud, Trésorier, Romain, Chaouat, Ari, Cottin, Vincent, Sanfiorenzo, Céline, Prevot, Grégoire, Reynaud-Gaubert, Martine, Dromer, Claire, Houeijeh, Ali, Nguyen, Karine, Coulet, Florence, Bonnet, Damien, Humbert, Marc, Soubrier, Florent
Published in The European respiratory journal (01.03.2019)
Published in The European respiratory journal (01.03.2019)
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