検索結果 - Juan José Poza

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  1. 1
    Melatonina en los trastornos de sueño

    Melatonina en los trastornos de sueño 著者: Juan José Poza, Montserrat Pujol, J.J. Ortega-Albás, Odile Romero

    出版事項 2018
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  2. 2
    Melatonin in sleep disorders

    Melatonin in sleep disorders 著者: Juan José Poza, Montserrat Pujol, J.J. Ortega-Albás, Odile Romero

    出版事項 2020
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  3. 3
    Olfactory deficits and cardiac <sup>123</sup>I‐MIBG in Parkinson's disease related to the <i>LRRK2</i> R1441G and G2019S mutations

    Olfactory deficits and cardiac <sup>123</sup>I‐MIBG in Parkinson's disease related to the <i>LRRK2</i> R1441G and G2019S mutations 著者: Javier Ruiz‐Martínez, Ana Gorostidi, Estíbaliz Goyenechea, Ainhoa Alzualde, Juan José Poza, F. Rodrı́guez, Alberto Bergareche, Fermín Moreno, Adolfo López de Munaín, J.F. Martí-Massó

    出版事項 2011
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    Artigo
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  4. 4
    The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

    The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism 著者: J.F. Martí-Massó, Alberto Bergareche, Vladimir Makarov, Javier Ruiz‐Martínez, Ana Gorostidi, Adolfo López de Munaín, Juan José Poza, Pasquale Striano, Joseph D. Buxbaum, Coro Paisán‐Ruiz

    出版事項 2013
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    Artigo
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  5. 5
    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations

    Actininopathy: A new muscular dystrophy caused by <i>ACTN2</i> dominant mutations 著者: Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olivé, Ana María Cobo, Anna Vihola, Per Harald Jonson, J. Sarparanta, F. García-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

    出版事項 2019
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  6. 6
    Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

    Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy 著者: Montse Olivé, Zagaa Odgerel, Amaia Martínez, Juan José Poza, Federico García Bragado, Ramón J. Zabalza, Ivonne Jericó, Laura González, Aleksey Shatunov, Hee Suk Lee, Judith Armstrong, E. Maraví, Maria Ramos Arroyo, Jordi Pascual-Calvet, Carmen Navarro, Carmen Paradas, Mariano Huerta Villanueva, Fabian Márquez, Eduardo Gutiérrez Rivas, Adolf Pou, Isidró Ferrer, Lev G. Goldfarb

    出版事項 2011
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  7. 7
    Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families

    Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families 著者: Roberto Michelucci, Juan José Poza, Vito Sofia, M. R. De Feo, S. Binelli, Francesca Bisulli, E. Scudellaro, Barbara Simionati, Rosanna Zimbello, G. D’Orsi, D. Passarelli, Patrizia Avoni, G. Avanzini, Paolo Tinuper, Roberto Biondi, Giorgio Valle, Victor F. Mautner, Ulrich Stephani, C. A. Tassinari, Nicholas Κ. Moschonas, Reiner Siebert, Adolpho Lopez de Munain, Jordi Pérez‐Tur, Carlo Nobile

    出版事項 2003
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    Artigo
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  8. 8
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain 著者: Lídia González-Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Jorge Alonso‐Pérez, Eduard Gallardo, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, Montse Olivé, Laura González, Adolfo López de Munaín, Miren Zulaica, Juan José Poza, Ivonne Jericó, Laura Torné, Pau Riera, José C. Milisenda, Aurora Sánchez, Glòria Garrabou, Isabel Llano‐Rivas, Marcos Madruga‐Garrido, P. Gallano

    出版事項 2020
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    Artigo
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  9. 9
    Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

    Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia 著者: Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albájar, Elisabet Mondragón, Ana Vinagre‐Aragón, Roberto Fernández‐Torrón, Fermín Moreno, Jon Equiza, David Campo‐Caballero, Juan José Poza, M. Ruibal, Alessandro Formica, Marie‐Josée Dicaire, Matt C. Danzi, Stephan Züchner, Ioana Croitoru, Montserrat Ruíz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munaín, Javier Ruiz‐Martínez

    出版事項 2023
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    Artigo
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  10. 10
    LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene

    LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene 著者: Amets Sáenz, France Leturcq, A.M. Cobo, Juan José Poza, Xavier Ferrer, David Otaegui, Pilar Camaño, Miguel Urtasun, Juan J. Vílchez, Eduardo Gutiérrez‐Rivas, José Ignacio Emparanza, Luciano Merlini, C. Paisán, María Goicoechea, Lorea Blázquez, B. Eymard, Hanns Lochmüller, Mathias C. Walter, C. Bönnemann, Dominique Figarella‐Branger, Josseline Kaplan, J. Andoni Urtizberea, J.F. Martí-Massó, Adolfo López de Munaín

    出版事項 2005
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  11. 11
    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

    Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy 著者: Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Marc Bitoun, Christopher R. Pierson, Élise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S. Greenleaf, Melissa A. Barger, Lane J. Mahoney, Peter B. Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz‐Laguna, Carina Wallgren‐Pettersson, James J. Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary Sousa Bulle Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, A. Furby, José Eulalio Bárcena, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin‐Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine D. Mathews, Lori A.H. Erby, Stephen A. Smith, Jennifer Roggenbuck, Carol A. Crowe, Allison Brennan Spitale, Sheila C. Johal, Anthony A. Amato, Laurie Demmer, Jessica Jonas, Basil T. Darras, Thomas D. Bird, Mercy Laurino, Selman I. Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean‐Louis Mandel, Alan H. Beggs, Jocelyn Laporte

    出版事項 2012
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  12. 12
    Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy

    Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy 著者: Böhm, Johann, Biancalana, Valérie, DeChene, Elizabeth T., Bitoun, Marc, Pierson, Christopher R., Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A., Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Ousager, Lilian Bomme, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S. B., Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Cristofano, Michele, Aldea, Juan José Poza, Michel, Fabrice, Furby, Alain, Llona, Jose E. Barcena, Van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori A. H., Smith, Stephen A., Roggenbuck, Jennifer, Crowe, Carol A., Spitale, Allison Brennan, Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Jonas, Jessica, Darras, Basil T., Bird, Thomas D., Laurino, Mercy, Welt, Selman I., Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H., Laporte, Jocelyn

    出版事項 2012
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