Search Results - Leboucq, Nicolas

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report by Thaller, Penelope, Blanchet, Catherine, Badr, Maliha, Mesnage, Renaud, Leboucq, Nicolas, Mondain, Michel, Cambonie, Gilles

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Isolated neonatal bilateral vocal cord paralysis revealing a unilateral medullary defect: a case report by Brotelande, Camille, Leboucq, Nicolas, Akkari, Mohamed, Roujeau, Thomas, Di Maio, Massimo, Milési, Christophe, Mondain, Michel, Raybaud, Charles, Cambonie, Gilles

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Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35 by Marelli, Cecilia, Salih, Mustafa A., Nguyen, Karine, Mallaret, Martial, Leboucq, Nicolas, Hassan, Hamdy H., Drouot, Nathalie, Labauge, Pierre, Koenig, Michel

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Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke by Demailly, Diane, Vianey‐Saban, Christine, Acquaviva, Cécile, Gonzalez, Victoria, Rubio, Isabel De Antonio, Cyprien, Fabienne, Roujeau, Thomas, Masoliver, Adria, Leboucq, Nicolas, Coubes, Philippe, Cif, Laura

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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! by Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? by Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy

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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis by Curie, Aurore, Touil, Nathalie, Gaillard, Ségolène, Galanaud, Damien, Leboucq, Nicolas, Deschênes, Georges, Morin, Denis, Abad, Fanny, Luauté, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cécile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, François, Bertholet-Thomas, Aurélia

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Novel dominant distal titinopathy phenotype associated with copy number variation by Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille

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An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie... by Juntas Morales, Raul, Perrin, Aurélien, Solé, Guilhem, Lacourt, Delphine, Pegeot, Henri, Walther-Louvier, Ulrike, Cintas, Pascal, Cances, Claude, Espil, Caroline, Theze, Corinne, Zenagui, Reda, Yauy, Kevin, Cosset, Elodie, Renard, Dimitri, Rigau, Valerie, Maues de Paula, Andre, Uro-Coste, Emmanuelle, Arne-Bes, Marie-Christine, Martin Négrier, Marie-Laure, Leboucq, Nicolas, Acket, Blandine, Malfatti, Edoardo, Biancalana, Valérie, Metay, Corinne, Richard, Pascale, Rendu, John, Rivier, François, Koenig, Michel, Cossée, Mireille

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development by Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans by Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease by Rice, Gillian I., Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy A., Burton, Annabel C.E., Carpanelli, Maria Luisa, Cerisola, Alfredo M., Colson, Cindy, Dale, Russell C., Danti, Federica Rachele, Darin, Niklas, De Azua, Begoña, De Giorgis, Valentina, De Goede, Christian G. L, Desguerre, Isabelle, De Laet, Corinne, Eslahi, Atieh, Fahey, Michael C., Fallon, Penny, Fay, Alex, Fazzi, Elisa, Gorman, Mark P., Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A., Leboucq, Nicolas, Lin, Jean-Pierre S-M, Lines, Matthew A., Mar, Soe S., Maroofian, Reza, Martí-Sanchez, Laura, McCullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M., Rasmussen, Magnhild, Rivier, François, Rodríguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I., Toosi, Mehran Beiraghi, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H., Crow, Yanick J.

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia by Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien

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