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

ανά Acket, Blandine, Amirova, Liubov, Gerdelat, Angelique, Cintas, Pascal, Custaud, Marc-Antoine, Pavy-LeTraon, Anne
Τόπος έκδοσης PLoS One (2018)

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

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

Which Method for Diagnosing Small Fiber Neuropathy?

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

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

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

Gateway and journey of patients with cardiac amyloidosis

ανά 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
Τόπος έκδοσης ESC Heart Fail (2020)

Hepatitis E Virus and Neurologic Disorders

ανά 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.
Έκδοση 2011

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

ανά 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
Τόπος έκδοσης Int J Mol Sci (2020)

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

ανά 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
Τόπος έκδοσης Orphanet J Rare Dis (2018)

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis

ανά 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
Τόπος έκδοσης ESC Heart Fail (2020)

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

ανά 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
Τόπος έκδοσης Mol Genet Genomic Med (2019)

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

ανά 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
Έκδοση 2014

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

ανά 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
Τόπος έκδοσης PLoS One (2016)