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

Autor Acket, Blandine, Amirova, Liubov, Gerdelat, Angelique, Cintas, Pascal, Custaud, Marc-Antoine, Pavy-LeTraon, Anne
Vydáno v PLoS One (2018)

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

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

Which Method for Diagnosing Small Fiber Neuropathy?

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

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

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

Gateway and journey of patients with cardiac amyloidosis

Autor 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
Vydáno v ESC Heart Fail (2020)

Hepatitis E Virus and Neurologic Disorders

Autor 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.
Vydáno 2011

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

Autor 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
Vydáno v Int J Mol Sci (2020)

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

Autor 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
Vydáno v Orphanet J Rare Dis (2018)

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis

Autor 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
Vydáno v ESC Heart Fail (2020)

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

Autor 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
Vydáno v Mol Genet Genomic Med (2019)

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

Autor 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
Vydáno 2014

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

Autor 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
Vydáno v PLoS One (2016)