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

nork Acket, Blandine, Amirova, Liubov, Gerdelat, Angelique, Cintas, Pascal, Custaud, Marc-Antoine, Pavy-LeTraon, Anne
Argitaratua izan da PLoS One (2018)

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

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

Which Method for Diagnosing Small Fiber Neuropathy?

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

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

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

Gateway and journey of patients with cardiac amyloidosis

nork 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
Argitaratua izan da ESC Heart Fail (2020)

Hepatitis E Virus and Neurologic Disorders

nork 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.
Argitaratua 2011

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

nork 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
Argitaratua izan da Int J Mol Sci (2020)

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

nork 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
Argitaratua izan da Orphanet J Rare Dis (2018)

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis

nork 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
Argitaratua izan da ESC Heart Fail (2020)

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

nork 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
Argitaratua izan da Mol Genet Genomic Med (2019)

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

nork 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
Argitaratua 2014

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

nork 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
Argitaratua izan da PLoS One (2016)