检索结果 - Miquel Raspall‐Chaure

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  1. 1
    Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency

    Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency 由 Isabel Caragol, Miquel Raspall‐Chaure, Claire Fieschi, J. Feinberg, Nieves Larrosa, M. Hernández, Concepció Figueras, J. M. Bertran, Jean‐Laurent Casanova, Teresa Español

    出版 2003
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  2. 2
    Herpes simplex virus encephalitis is a trigger of brain autoimmunity

    Herpes simplex virus encephalitis is a trigger of brain autoimmunity 由 Thaís Armangué, Frank Leypoldt, Ignacio Málaga, Miquel Raspall‐Chaure, Itxaso Martí, Charles Nichter, John Pugh, Mònica Vicente-Rasoamalala, Miguel Lafuente‐Hidalgo, Alfons Macaya, Michael C. Ke, Maarten J. Titulaer, Romana Höftberger, Heather Sheriff, Carol Glaser, Josep Dalmau

    出版 2013
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  3. 3
    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum 由 Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall‐Chaure, Naseebullah Kakar, Pola Smirin‐Yosef, Marta Vila‐Pueyo, Liora Kornreich, Hölger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik‐Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck

    出版 2013
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  4. 4
    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy 由 Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    出版 2021
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  5. 5
    Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency

    Low Penetrance, Broad Resistance, and Favorable Outcome of Interleukin 12 Receptor β1 Deficiency 由 Claire Fieschi, Stéphanie Boisson‐Dupuis, Émilie Catherinot, Jacqueline Feinberg, Jacinta Bustamante, Adrien Breiman, Frédéric Altare, Richard Baretto, Françoise Le Deist, Samer Kayal, Hartmut Koch, Darko Richter, Martin Brezina, Güzide Aksu, P. Wood, Suliman Aljumaah, Miquel Raspall‐Chaure, Alberto José da Silva Duarte, David Tuerlinckx, J L Virelizier, Alain Fischer, Andrea M. Enright, Jutta Bernhöft, Aileen M. Cleary, Christiane Vermylen, Carlos Rodríguez‐Gallego, Graham Davies, Renate Blütters‐Sawatzki, Claire-Anne Siegrist, Mohammad Ehlayel, Vas Novelli, W. Haas, Jacob Levy, Joachim Freihorst, Sami Al-Hajjar, David Nadal, Dewton de Moraes Vasconcelos, Olle Jeppsson, Necil Kütükçüler, Klára Frecerová, Isabel Caragol, David A. Lammas, Dinakantha Kumararatne, Laurent Abel, Jean‐Laurent Casanova

    出版 2003
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  6. 6
    Autoimmune post–herpes simplex encephalitis of adults and teenagers

    Autoimmune post–herpes simplex encephalitis of adults and teenagers 由 Thaís Armangué, Germán Morís, Verónica Cantarín Extremera, Carlos Enrique Conde, Kevin Rostásy, María Elena Erro, Juan Carlos Portilla-Cuenca, Eulàlia Turón-Viñas, Ignacio Málaga, Beatriz Muñoz‐Cabello, Carmen Torres-Torres, Sara Llufriú, Luis González‐Gutiérrez‐Solana, Guillermo González, Ignacio Casado-Naranjo, Myrna R. Rosenfeld, Francesc Graus, Josep Dalmau, Esther Aguilar, Sergio Aguilera, Izaskun Arratibel, Luís Bataller, Beatríz Bosch, Carlos Cervera, David Conejo-Moreno, Íñigo Corral, Marta Dapena, Domingo Escudero, Jordi Estela, Juan Carlos García‐Moncó, Verónica González-Álvarez, Robert Güerri, Sara Guillén-Martín, Rogelio López‐Cuevas, María Dolores López, Eduardo López‐Laso, Javier López Pisón, Virginia Pomar, Luis Prieto, B Martínez-Menéndez, Leticia Martin-Gil, Juan Navarro‐Morón, María Pérez-Poyato, Miquel Raspall‐Chaure, Maria Rodés, Raquel Sánchez‐Valle, Estevo Santamaria, Pere Soler‐Palacín, Manuel Toledo, Miguel Tomás‐Vila

    出版 2015
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  7. 7
    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 由 Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden

    出版 2019
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