Neuroprotective Effect of Erythropoietin against Pressure Ulcer in a Mouse Model of Small Fiber Neuropathy

por Danigo, Aurore, Magy, Laurent, Richard, Laurence, Desmoulière, Alexis, Bourthoumieu, Sylvie, Funalot, Benoît, Demiot, Claire
Publicado 2014

Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

por Baaj, Yasser, Magdelaine, Corinne, Ubertelli, Virginie, Valat, Christophe, Mousseau, Yoanne, Qiu, Hao, Funalot, Benoît, Vallat, Jean-Michel, Sturtz, Franck G.
Publicado 2009

NKX2.1 (TTF1) germline mutation associated with pulmonary fibrosis and lung cancer

por Borie, Raphael, Funalot, Benoit, Epaud, Ralph, Delestrain, Céline, Cazes, Aurélie, Gounant, Valerie, Frija, Justine, Debray, Marie-Pierre, Zalcman, Gérard, Crestani, Bruno
Publicado 2021

Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients

por Faye, Pierre-Antoine, Vedrenne, Nicolas, Miressi, Federica, Rassat, Marion, Romanenko, Sergii, Richard, Laurence, Bourthoumieu, Sylvie, Funalot, Benoît, Sturtz, Franck, Favreau, Frederic, Lia, Anne-Sophie
Publicado 2020

Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

por Mekki, Chadia, Aissat, Abdel, Mirlesse, Véronique, Mayer Lacrosniere, Sophie, Eche, Elsa, Le Floch, Annick, Whalen, Sandra, Prud’Homme, Cecile, Remus, Christelle, Funalot, Benoit, Castaigne, Vanina, Fanen, Pascale, de Becdelièvre, Alix
Publicado 2021

Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

por Monnot, Sophie, Gigarel, Nadine, Samuels, David C, Burlet, Philippe, Hesters, Laetitia, Frydman, Nelly, Frydman, René, Kerbrat, Violaine, Funalot, Benoit, Martinovic, Jelena, Benachi, Alexandra, Feingold, Josué, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie
Publicado 2011

Exome sequencing for diagnosis of congenital hemolytic anemia

por Mansour-Hendili, Lamisse, Aissat, Abdelrazak, Badaoui, Bouchra, Sakka, Mehdi, Gameiro, Christine, Ortonne, Valérie, Wagner-Ballon, Orianne, Pissard, Serge, Picard, Véronique, Ghazal, Khaldoun, Bahuau, Michel, Guitton, Corinne, Mansour, Ziad, Duplan, Mylène, Petit, Arnaud, Costedoat-Chalumeau, Nathalie, Michel, Marc, Bartolucci, Pablo, Moutereau, Stéphane, Funalot, Benoît, Galactéros, Frédéric
Publicado 2020

Prevalence and determinants of iron deficiency in cardiac amyloidosis

por Jobbé‐Duval, Antoine, Bézard, Mélanie, Moutereau, Stéphane, Kharoubi, Mounira, Oghina, Silvia, Zaroui, Amira, Galat, Arnault, Chalard, Coraline, Hugon‐Vallet, Elisabeth, Lemonnier, Francois, Eyharts, Damien, Poulot, Elsa, Fanen, Pascale, Funalot, Benoit, Molinier‐Frenkel, Valérie, Audard, Vincent, Hittinger, Luc, Delbarre, Marc Antoine, Teiger, Emmanuel, Damy, Thibaud
Publicado 2022

History of extracardiac/cardiac events in cardiac amyloidosis: prevalence and time from initial onset to diagnosis

por Kharoubi, Mounira, Bézard, Mélanie, Galat, Arnault, Le Bras, Fabien, Poullot, Elsa, Molinier‐Frenkel, Valérie, Fanen, Pascale, Funalot, Benoit, Moktefi, Anissa, Lefaucheur, Jean‐Pascal, Abulizi, Mukedaisi, Deux, Jean‐François, Lemonnier, François, Guendouz, Soulef, Chalard, Coraline, Zaroui, Amira, Audard, Vincent, Bequignon, Emilie, Bodez, Diane, Itti, Emmanuel, Hittinger, Luc, Audureau, Etienne, Teiger, Emmanuel, Oghina, Silvia, Damy, Thibaud
Publicado 2021

Amylo-AFFECT-QOL, a self-reported questionnaire to assess health-related quality of life and to determine the prognosis in cardiac amyloidosis

por Kharoubi, Mounira, Bézard, Mélanie, Broussier, Amaury, Galat, Arnault, Gounot, Romain, Poullot, Elsa, Molinier-Frenkel, Valérie, Fanen, Pascale, Funalot, Benoit, Itti, Emmanuel, Lemonnier, François, Sing Chadha, Gagan Deep, Guendouz, Soulef, Mallet, Sophie, Zaroui, Amira, Audard, Vincent, Audureau, Etienne, Le Corvoisier, Philippe, Hittinger, Luc, Planté Bordeneuve, Violaine, Lefaucheur, Jean-Pascal, Amiot, Aurélien, Bequignon, Emilie, Bartier, Sophie, Leroy, Vincent, Teiger, Emmanuel, Oghina, Silvia, Damy, Thibaud
Publicado 2023

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth dis...

por Attarian, Shahram, Vallat, Jean-Michel, Magy, Laurent, Funalot, Benoît, Gonnaud, Pierre-Marie, Lacour, Arnaud, Péréon, Yann, Dubourg, Odile, Pouget, Jean, Micallef, Joëlle, Franques, Jérôme, Lefebvre, Marie-Noëlle, Ghorab, Karima, Al-Moussawi, Mahmoud, Tiffreau, Vincent, Preudhomme, Marguerite, Magot, Armelle, Leclair-Visonneau, Laurène, Stojkovic, Tanya, Bossi, Laura, Lehert, Philippe, Gilbert, Walter, Bertrand, Viviane, Mandel, Jonas, Milet, Aude, Hajj, Rodolphe, Boudiaf, Lamia, Scart-Grès, Catherine, Nabirotchkin, Serguei, Guedj, Mickael, Chumakov, Ilya, Cohen, Daniel
Publicado 2014

Erratum to: An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Mar...

por Attarian, Shahram, Vallat, Jean-Michel, Magy, Laurent, Funalot, Benoît, Gonnaud, Pierre-Marie, Lacour, Arnaud, Péréon, Yann, Dubourg, Odile, Pouget, Jean, Micallef, Joëlle, Franques, Jérôme, Lefebvre, Marie-Noëlle, Ghorab, Karima, Al-Moussawi, Mahmoud, Tiffreau, Vincent, Preudhomme, Marguerite, Magot, Armelle, Leclair-Visonneau, Laurène, Stojkovic, Tanya, Bossi, Laura, Lehert, Philippe, Gilbert, Walter, Bertrand, Viviane, Mandel, Jonas, Milet, Aude, Hajj, Rodolphe, Boudiaf, Lamia, Scart-Grès, Catherine, Nabirotchkin, Serguei, Guedj, Mickael, Chumakov, Ilya, Cohen, Daniel
Publicado 2016

Genetic diagnosis of Mendelian disorders via RNA sequencing

por Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2017