Dry immersion as a model of deafferentation: A neurophysiology study using somatosensory evoked potentials

by Acket, Blandine, Amirova, Liubov, Gerdelat, Angelique, Cintas, Pascal, Custaud, Marc-Antoine, Pavy-LeTraon, Anne
Published in PLoS One (2018)

Renal, Ocular, and Neuromuscular Involvements in Patients with CLDN19 Mutations

by Faguer, Stanislas, Chauveau, Dominique, Cintas, Pascal, Tack, Ivan, Cointault, Olivier, Rostaing, Lionel, Vargas-Poussou, Rosa, Ribes, David
Published 2011

Which Method for Diagnosing Small Fiber Neuropathy?

by Fabry, Vincent, Gerdelat, Angélique, Acket, Blandine, Cintas, Pascal, Rousseau, Vanessa, Uro-Coste, Emmanuelle, Evrard, Solène M., Pavy-Le Traon, Anne
Published in Front Neurol (2020)

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

by Miressi, Federica, Magdelaine, Corinne, Cintas, Pascal, Bourthoumieux, Sylvie, Nizou, Angélique, Derouault, Paco, Favreau, Frédéric, Sturtz, Franck, Faye, Pierre-Antoine, Lia, Anne-Sophie
Published in Brain Sci (2020)

Gateway and journey of patients with cardiac amyloidosis

by Dang, Daniel, Fournier, Pauline, Cariou, Eve, Huart, Antoine, Ribes, David, Cintas, Pascal, Roussel, Murielle, Colombat, Magali, Lavie‐Badie, Yoan, Carrié, Didier, Galinier, Michel, Lairez, Olivier
Published in ESC Heart Fail (2020)

Hepatitis E Virus and Neurologic Disorders

by Kamar, Nassim, Bendall, Richard P., Peron, Jean Marie, Cintas, Pascal, Prudhomme, Laurent, Mansuy, Jean Michel, Rostaing, Lionel, Keane, Frances, Ijaz, Samreen, Izopet, Jacques, Dalton, Harry R.
Published 2011

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

by 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 Int J Mol Sci (2020)

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

by Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, Tilikete, Caroline, Anheim, Mathieu, Audoin, Bertrand, Deramecourt, Vincent, De Gaillarbois, Thierry Dubard, Roze, Emmanuel, Lamari, Foudil, Vanier, Marie T., Héron, Bénédicte
Published in Orphanet J Rare Dis (2018)

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis

by Fagot, Jerome, Lavie‐Badie, Yoan, Blanchard, Virginie, Fournier, Pauline, Galinier, Michel, Carrié, Didier, Lairez, Olivier, Cariou, Eve, Alric, Laurent, Bureau, Christophe, Chauveau, Dominique, Cintas, Pascal, Colombat, Magali, Delas, Audrey, Dupin‐Deguine, Delphine, Faguer, Stanislas, Huart, Antoine, Puissant, Bénédicte, Pugnet, Grégory, Prévot, Grégoire, Ribes, David, Roussel, Murielle, Sailler, Laurent
Published in ESC Heart Fail (2020)

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

by Lerat, Justine, Magdelaine, Corinne, Roux, Anne‐Françoise, Darnaud, Léa, Beauvais‐Dzugan, Hélène, Naud, Steven, Richard, Laurence, Derouault, Paco, Ghorab, Karima, Magy, Laurent, Vallat, Jean‐Michel, Cintas, Pascal, Bieth, Eric, Arne‐Bes, Marie‐Christine, Goizet, Cyril, Espil‐Taris, Caroline, Journel, Hubert, Toutain, Annick, Urtizberea, Jon Andoni, Boespflug‐Tanguy, Odile, Laffargue, Fanny, Corcia, Philippe, Pasquier, Laurent, Fradin, Mélanie, Napuri, Sylva, Ciron, Jonathan, Boulesteix, Jean‐Marc, Sturtz, Franck, Lia, Anne‐Sophie
Published in Mol Genet Genomic Med (2019)

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

by Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, OÖzge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Published 2014

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

by Dogan, Celine, De Antonio, Marie, Hamroun, Dalil, Varet, Hugo, Fabbro, Marianne, Rougier, Felix, Amarof, Khadija, Arne Bes, Marie-Christine, Bedat-Millet, Anne-Laure, Behin, Anthony, Bellance, Remi, Bouhour, Françoise, Boutte, Celia, Boyer, François, Campana-Salort, Emmanuelle, Chapon, Françoise, Cintas, Pascal, Desnuelle, Claude, Deschamps, Romain, Drouin-Garraud, Valerie, Ferrer, Xavier, Gervais-Bernard, Helene, Ghorab, Karima, Laforet, Pascal, Magot, Armelle, Magy, Laurent, Menard, Dominique, Minot, Marie-Christine, Nadaj-Pakleza, Aleksandra, Pellieux, Sybille, Pereon, Yann, Preudhomme, Marguerite, Pouget, Jean, Sacconi, Sabrina, Sole, Guilhem, Stojkovich, Tanya, Tiffreau, Vincent, Urtizberea, Andoni, Vial, Christophe, Zagnoli, Fabien, Caranhac, Gilbert, Bourlier, Claude, Riviere, Gerard, Geille, Alain, Gherardi, Romain K., Eymard, Bruno, Puymirat, Jack, Katsahian, Sandrine, Bassez, Guillaume
Published in PLoS One (2016)