Resultados da busca - Benoit Funalot

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review por Álvaro Darriba, Arnold Munnich, Pedro Cardoso-Leite, Benoît Funalot, Benoît Funalot, Benoît Funalot, Florian Waszak

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A new staging system for hereditary transthyretin amyloidosis in the era of specific amyloidosis therapies por Gabriela Neculae, Amira Zaroui, Robert Adam, Mounira Kharoubi, Benoit Funalot, Daniel Coriu, Ruxandra Jurcut, Thibaud Damy

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A highly specific microarray method for point mutation detection por Yasser Baaj, Corinne Magdelaine, Virginie Ubertelli, Christophe Valat, Luc Talini, Françoise Soussaline, Elena Khomyakova, Benoît Funalot, Jean-Michel Vallat, Franck G. Sturtz

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Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients por Pierre-Antoine Faye, Nicolas Vedrenne, Federica Miressi, Marion Rassat, Sergii Romanenko, Laurence Richard, Sylvie Bourthoumieu, Benoît Funalot, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia

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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb por Lamisse Mansour-Hendili, Lamisse Mansour-Hendili, Cyril Gitiaux, Cyril Gitiaux, Madeleine Harion, Madeleine Harion, Madeleine Harion, Céline Latouche, Bénédicte Heron, Bénédicte Heron, Tanya Stojkovic, Mélanie Rama, Thomas Smol, Thomas Smol, Anne Sophie Jourdain, Anne Sophie Jourdain, Karine Mention, Yann Nadjar, Manuel Schiff, Manuel Schiff, Manuel Schiff, Julie Lemale, Jamal Ghoumid, Jamal Ghoumid, Frédéric Gottrand, Frédéric Gottrand, Cécile Talbotec, Agnès Rötig, Agnès Rötig, Benoît Funalot, Benoît Funalot, Isabelle Desguerre, Isabelle Desguerre

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Phenotype and prognostic factors in geriatric and non‐geriatric patients with transthyretin cardiomyopathy por Eugenia Volpentesta, Mounira Kharoubi, Cristiano Donadio, Kahina Rebiai, Pascale Fanen, Benoit Funalot, Thierry Gendre, Vincent Audard, Florence Canoui‐Poitrine, Emmanuel Itti, Emmanuel Teiger, Violaine Planté‐Bordeneuve, Silvia Oghina, Denis Tixier, Sophie Mallet, Amaury Broussier, Thibaud Damy, Amira Zaroui

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Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics por Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant

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Prevalence and determinants of iron deficiency in cardiac amyloidosis por Antoine Jobbé‐Duval, Mélanie Bézard, Stéphane Moutereau, Mounira Kharoubi, Silvia Oghina, Amira Zaroui, Arnault Galat, Coraline Chalard, Elisabeth Hugon‐Vallet, Francois Lemonnier, Damien Eyharts, Elsa Poulot, Pascale Fanen, Benoit Funalot, Valérie Molinier‐Frenkel, Vincent Audard, Luc Hittinger, Marc Antoine Delbarre, Emmanuel Teiger, Thibaud Damy

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History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis por Mounira Kharoubi, Mélanie Bézard, Arnault Galat, Fabien Le Bras, Elsa Poullot, Valérie Molinier‐Frenkel, Pascale Fanen, Benoit Funalot, Anissa Moktefi, Jean‐Pascal Lefaucheur, Mukedaisi Abulizi, Jean‐François Deux, François Lemonnier, Soulef Guendouz, Coraline Chalard, Amira Zaroui, Vincent Audard, Emilie Bequignon, Diane Bodez, Emmanuel Itti, Luc Hittinger, Etienne Audureau, Emmanuel Teiger, Silvia Oghina, Thibaud Damy

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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies por Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Delphine Dupin-Deguine, Dominique Fargeaud, Agnès Farrugia, Anna-Gaëlle Giguet-Valard, Damien Guijarro, Jocelyn Inamo, Julien Jeanneteau, Jean-Michaël Mazzella, Claire-Cécile Michon, Gilles Millat, Frédéric Mouquet, Silvia Oghina, Yann Pereon, Vianney Poinsignon, Julie Pompougnac, Julie Proukhnitzky, Elise Schaefer, Franck Sturtz, Mathilde Trosdorf, Anne Auguste, Giorgia Canali, Alexandre Combes, Benoît Funalot, Thibaud Damy

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Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis por Mounira Kharoubi, Mounira Kharoubi, Mounira Kharoubi, Mounira Kharoubi, Mélanie Bézard, Mélanie Bézard, Mélanie Bézard, Mélanie Bézard, Amaury Broussier, Amaury Broussier, Arnault Galat, Arnault Galat, Arnault Galat, Arnault Galat, Romain Gounot, Romain Gounot, Romain Gounot, Elsa Poullot, Elsa Poullot, Valérie Molinier-Frenkel, Valérie Molinier-Frenkel, Valérie Molinier-Frenkel, Pascale Fanen, Pascale Fanen, Benoit Funalot, Benoit Funalot, Emmanuel Itti, Emmanuel Itti, Emmanuel Itti, Emmanuel Itti, François Lemonnier, François Lemonnier, Gagan Deep Sing Chadha, Gagan Deep Sing Chadha, Gagan Deep Sing Chadha, Soulef Guendouz, Soulef Guendouz, Soulef Guendouz, Soulef Guendouz, Sophie Mallet, Sophie Mallet, Sophie Mallet, Sophie Mallet, Amira Zaroui, Amira Zaroui, Amira Zaroui, Amira Zaroui, Vincent Audard, Vincent Audard, Etienne Audureau, Philippe Le Corvoisier, Luc Hittinger, Luc Hittinger, Luc Hittinger, Luc Hittinger, Violaine Planté Bordeneuve, Violaine Planté Bordeneuve, Jean-Pascal Lefaucheur, Jean-Pascal Lefaucheur, Aurélien Amiot, Aurélien Amiot, Emilie Bequignon, Emilie Bequignon, Sophie Bartier, Sophie Bartier, Vincent Leroy, Vincent Leroy, Emmanuel Teiger, Emmanuel Teiger, Emmanuel Teiger, Emmanuel Teiger, Silvia Oghina, Silvia Oghina, Silvia Oghina, Thibaud Damy, Thibaud Damy, Thibaud Damy, Thibaud Damy, Thibaud Damy

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features por Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson

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