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

بواسطة Acket, Blandine, Amirova, Liubov, Gerdelat, Angelique, Cintas, Pascal, Custaud, Marc-Antoine, Pavy-LeTraon, Anne
الحاوية / القاعدة PLoS One (2018)

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

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

Which Method for Diagnosing Small Fiber Neuropathy?

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

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

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

Gateway and journey of patients with cardiac amyloidosis

بواسطة 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
الحاوية / القاعدة ESC Heart Fail (2020)

Hepatitis E Virus and Neurologic Disorders

بواسطة 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.
منشور في 2011

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

بواسطة 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
الحاوية / القاعدة Int J Mol Sci (2020)

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

بواسطة 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
الحاوية / القاعدة Orphanet J Rare Dis (2018)

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis

بواسطة 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
الحاوية / القاعدة ESC Heart Fail (2020)

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

بواسطة 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
الحاوية / القاعدة Mol Genet Genomic Med (2019)

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

بواسطة 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
منشور في 2014

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

بواسطة 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
الحاوية / القاعدة PLoS One (2016)