检索结果 - Xavier Ferrer
- Showing 1 - 12 results of 12
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Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans 由 Bouhours, Magali, Sternberg, Damien, Davoine, Claire-Sophie, Xavier, Ferrer, Willer, Jean Claude, Fontaine, Bertrand, Tabti, Nacira
出版 2004Text -
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Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances 由 Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, Guillaume Duthoit, Jean‐Louis Hébert, Xavier Ferrer, Svetlana Maugenre, Wilhelm Schmitz, Uwe Kirchhefer, Ellen Schulze-Bahr, Pascale Guicheney, Eric Schulze‐Bahr
出版 2011Artigo -
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Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 由 Justin P. Rubio, Adrian Danek, Caroline Stone, R. M. Chalmers, Nicholas Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian Maria Fabrizi, M. Manfredi, Jeffery M. Vance, Margaret A. Pericak‐Vance, Robert H. Brown, Gabrielle Rudolf, Fabienne Picard, Elisa Alonso, Mitchell F. Brin, Andrea H. Németh, Martin Farrall, Anthony P. Monaco
出版 1997Artigo -
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy 由 Stephan Klebe, Christel Depienne, S. Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fédirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Solé, A. Destée, Jean-Michel Mayer, Bertrand Fontaine, de Sèze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stévanin, Josseline Kaplan, Jean‐Michel Rozet, Alexis Brice, Alexandra Dürr
出版 2012Artigo -
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LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene 由 Amets Sáenz, France Leturcq, A.M. Cobo, Juan José Poza, Xavier Ferrer, David Otaegui, Pilar Camaño, Miguel Urtasun, Juan J. Vílchez, Eduardo Gutiérrez‐Rivas, José Ignacio Emparanza, Luciano Merlini, C. Paisán, María Goicoechea, Lorea Blázquez, B. Eymard, Hanns Lochmüller, Mathias C. Walter, C. Bönnemann, Dominique Figarella‐Branger, Josseline Kaplan, J. Andoni Urtizberea, J.F. Martí-Massó, Adolfo López de Munaín
出版 2005Artigo -
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Anti-HMGCR Autoantibodies in European Patients With Autoimmune Necrotizing Myopathies 由 Yves Allenbach, Laurent Drouot, A. Rigolet, Jean Luc Charuel, F. Jouen, Norma B. Romero, Thierry Maisonobe, O. Dubourg, Anthony Béhin, Pascal Laforêt, T. Stojkovic, B. Eymard, N. Costedoat‐Chalumeau, Emmanuelle Salort‐Campana, Anne Tournadre, Lucile Musset, Brigitte Bader‐Meunier, Isabelle Koné‐Paut, Jean Sibilia, Laurent Servais, Olivier Fain, C. Larroche, Élisabeth Diot, Benjamin Terrier, Raphaël De Paz, Antoine Dossier, Dominique Ménard, Chafika Morati, M Roux, Xavier Ferrer, J. Martinet, Sophie Besnard, Rémi Bellance, P. Cacoub, Laurent Arnaud, B. Grosbois, S. Herson, Olivier Boyer, Olivier Benvéniste
出版 2014Artigo -
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Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex 由 Livia Parodi, Silvia Fenu, Mathieu Barbier, Guillaume Banneau, Charles Duyckaerts, Sophie Tézenas du Montcel, Marie‐Lorraine Monin, Samia Ait Said, Justine Guégan, Chantal Tallaksen, Bertrand Sablonniere, Alexis Brice, Giovanni Stévanin, Christel Depienne, Alexandra Dürr, Myriem Abada, Mathieu Anheim, Dominique Bonneau, Perrine Charles, Pierre Clavelou, Giulia Coarelli, Paula Coutinho, Rabab Debs, N. Elleuch, Claire Ewenczyk, Imed Feki, Xavier Ferrer, Bertrand Fontaine, Cyril Goizet, Lucie Guyant‐Maréchal, Didier Hannequin, Solveig Heide, Abdoul Kassar, Pierre Labauge, A Lagueny, Isabelle Le Ber, Timothée Lenglet, Lionel Van Maldergem, Cécilia Marelli, Karine Nguyen, Diana Rodriguez, Tanya Stojkovic, Alina Tataru, Maya Tchikviladzé, Christine Tranchant, N. Vandenberghe
出版 2018Artigo -
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study 由 Céline Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne‐Laure Bédat‐Millet, Anthony Béhin, Rémi Bellance, Françoise Bouhour, Célia Boutte, F. Boyer, Emmanuelle Salort‐Campana, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valérie Drouin‐Garraud, Xavier Ferrer, H. Gervais-Bernard, Karima Ghorab, Pascal Laforêt, Armelle Magot, Laurent Magy, Dominique Ménard, Marie-Christine Minot, Aleksandra Nadaj‐Pakleza, Sybille Pellieux, Yann Péréon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Solé, Tanya Stojkovich, V. Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K. Gherardi, B. Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez
出版 2016Artigo -
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies 由 Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Neal K. Lakdawala, Caroline Stalens, Frédéric Sacher, Dominique Babuty, Jean‐Noël Trochu, Ghassan Moubarak, Kostantinos Savvatis, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Éloi Marijon, Tanya Stojkovic, Anthony Béhin, Sarah Léonard-Louis, Guilhem Solé, Fabien Labombarda, Pascale Richard, Corinne Métay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Marie‐Christine Vantyghem, Philippe Chevalier, Pı̈erre 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 K. Vohra, Alexander F.A. Androulakis, Katja Zeppenfeld, T. Thompson, Christine Barnérias, Henri-Marc Bécane, Éric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Stéphane Boulé, Anne‐Claire Bréhin, Françoise Chapon, Pascal Cintas, Jean‐Marie Cuisset, Jean‐Marc Davy, Annachiara De Sandre‐Giovannoli, Florence Démurger, 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 Jéru, Raúl Juntas Morales, Emmanuelle Lagrue, Nicolas Lamblin, Olivier Lascols, Vincent Laugel, Arnaud Lazarus, France Leturcq, Nicolas Lévy, Armelle Magot, Véronique Manel, Raphaël P. Martins, M. 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, S. Schaeffer, Frédéric Taithe, Céline Tard, V. Tiffreau
出版 2019Artigo
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Hereditary spastic paraplegia
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