Хайлтын үр дүнгүүд - Alejandro Horga

  • 15-н 1 - 15 үр дүнгүүдийг харуулж байна
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  1. 1
    A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder

    A <i>de novo</i> dominant mutation in <i>KIF1A</i> associated with axonal neuropathy, spasticity and autism spectrum disorder -н Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga, Matilde Laurá, Julian Blake, Henry Houlden, Mary M. Reilly

    Хэвлэсэн 2017
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    Artigo
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  2. 2
    IGHMBP2 mutation associated with organ-specific autonomic dysfunction

    IGHMBP2 mutation associated with organ-specific autonomic dysfunction -н Pedro José Tomaselli, Alejandro Horga, Alexander M. Rossor, Zane Jaunmuktane, Andrea Cortese, Julian Blake, Natalia Zárate-López, Henry Houlden, Mary M. Reilly

    Хэвлэсэн 2018
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    Artigo
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  3. 3
    Prevalence study of genetically defined skeletal muscle channelopathies in England

    Prevalence study of genetically defined skeletal muscle channelopathies in England -н Alejandro Horga, D.L. Raja Rayan, Emma Matthews, Richa Sud, Doreen Fialho, S. Durran, J. Burge, Simona Portaro, Mary B. Davis, Andrea Haworth, Michael G. Hanna

    Хэвлэсэн 2013
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    Artigo
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  4. 4
    Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

    Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia -н Alejandro Horga, Robert D. S. Pitceathly, Julian Blake, Catherine E. Woodward, Pedro Zapater, Carl Fratter, Ese Mudanohwo, Gordon T. Plant, Henry Houlden, Mary G. Sweeney, Michael G. Hanna, Mary M. Reilly

    Хэвлэсэн 2014
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    Artigo
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  5. 5
    Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

    Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT -н Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga, Zane Jaunmuktane, Aisling Carr, Paola Saveri, Giuseppe Piscosquito, Davide Pareyson, Matilde Laurá, Julian Blake, Roy Poh, James M. Polke, Henry Houlden, Mary M. Reilly

    Хэвлэсэн 2017
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    Artigo
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  6. 6
    Extended phenotypic spectrum of <i>KIF5A</i> mutations

    Extended phenotypic spectrum of <i>KIF5A</i> mutations -н Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden

    Хэвлэсэн 2014
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    Artigo
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  7. 7
    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes

    Mitochondrial disease and COVID-19: An international cohort study confirms risks and long-term outcomes -н Chiara Pizzamiglio, Hallgeir Jonvik, Stefen Brady, Patrick F. Chinnery, Lucía Galán, Gráinne S. Gorman, Alejandro Horga, Rita Horváth, Mirian C. H. Janssen, Albert Lim, Michelangelo Mancuso, Robert McFarland, Mária Judit Molnár, Olimpia Musumeci, Victoria Nesbitt, Wladimir, Guido Primiano, Ernestina Santos, Serenella Servidei, Rhys H. Thomas, Michael G. Hanna, Pedro Machado, Robert D. S. Pitceathly

    Хэвлэсэн 2021
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    Artigo
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  8. 8
    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

    Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy -н Adriana Rebelo, Alexander J. Abrams, Ellen Cottenie, Alejandro Horga, Michael Gonzalez, Dana M. Bis‐Brewer, Avencia Sánchez-Mejías, Milena Pinto, Elena Buglo, Kasey Markel, Jeffrey S. Prince, Matilde Laurá, Henry Houlden, Julian Blake, Cathy E. Woodward, Mary G. Sweeney, Janice L. Holton, Michael G. Hanna, Julia E. Dallman, Michaela Auer‐Grumbach, Mary M. Reilly, Stephan Züchner

    Хэвлэсэн 2016
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    Artigo
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  9. 9
    Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry

    Factors associated with the severity of <scp>COVID</scp>‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular <scp>COVID</scp>‐19 Registry... -н Chiara Pizzamiglio, Robert D. S. Pitceathly, Michael P. Lunn, Stefen Brady, Fabiola De Marchi, Lucía Galán, Jeannine M. Heckmann, Alejandro Horga, Mária Judit Molnár, Acary Sousa Bulle Oliveira, Wladimir Bocca Vieira de Rezende Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo Victor Sgobbi de Souza, Venugopalan Y. Vishnu, Michael G. Hanna, Mazen M. Dimachkie, Pedro Machado

    Хэвлэсэн 2022
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    Artigo
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  10. 10
    Mitochondrial impairment and rescue in riboflavin responsive neuropathy

    Mitochondrial impairment and rescue in riboflavin responsive neuropathy -н Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Amelie Pandraud, Vincenzo Salpietro, Simon Pope, Marthe H. R. Ludtmann, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Хэвлэсэн 2017
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    Pré-impressão
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  11. 11
    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy -н Andreea Manole, Zane Jaunmuktane, Iain P. Hargreaves, Marthe H. R. Ludtmann, Vincenzo Salpietro, Oscar D. Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, R. Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles Marques Lourenço, Simon Heales, Rita Horváth, Patrick F. Chinnery, Camilo Toro, Andrew Singleton, Thomas S. Jacques, Andrey Y. Abramov, Francesco Muntoni, Michael G. Hanna, Mary M. Reilly, Tamás Révész, Dimitri M. Kullmann, James E.C. Jepson, Henry Houlden

    Хэвлэсэн 2017
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    Artigo
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  12. 12
    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2

    Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 -н Ellen Cottenie, Andrzej Kochański, Albena Jordanova, Boglárka Bánsági, M. Zimoń, Alejandro Horga, Zane Jaunmuktane, Paola Saveri, Vedrana Milić Rašić, Jonathan Baets, Marina Bartsakoulia, Rafał Płoski, Paweł Teterycz, Miloš Nikolić, Rosaline C. M. Quinlivan, Matilde Laurá, Mary G. Sweeney, Franco Taroni, Michael P. Lunn, Isabella Moroni, Michael Gonzalez, Michael G. Hanna, Conceição Bettencourt, E Chabrol, André Franke, Katja von Au, Markus B. Schilhabel, Dagmara Kabzińska, I Hausmanowa-Pétrusewicz, Sebastian Brandner, Siew Choo Lim, Haiwei Song, Byung‐Ok Choi, Rita Horváth, Ki-Wha Chung, Stephan Züchner, Davide Pareyson, Matthew B. Harms, Mary M. Reilly, Henry Houlden

    Хэвлэсэн 2014
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    Artigo
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  13. 13
    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion -н Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J. Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Péréon, Cécile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Currò, Pedro José Tomaselli, Gilbert Thomas‐Black, Roisin Sullivan, Stéphanie Efthymiou, Alexander M. Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James M. Polke, Diego Kaski, Rita Horváth, Patrick F. Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nicholas Wood, Adolfo M. Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel G. Laing, Richard Roxburgh, Henry Houlden, Mary M. Reilly

    Хэвлэсэн 2020
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    Artigo
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  14. 14
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects -н Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Хэвлэсэн 2020
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    Artigo
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  15. 15
    Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry

    Neurological presentations of COVID-19: Findings from the Spanish Society of Neurology neuroCOVID-19 registry -н David García-Azorí­n, María José Abenza Abildúa, M.E. Erro Aguirre, Santiago Fernández Fernández, Juan Carlos García Moncó, C. Guijarro-Castro, Montserrat González-Platas, Fernando Romero Delgado, José Miguel Laínez Andrés, David Ezpeleta, Alejandra Collía Fernández, Alejandro Horga, Ana Barragán-Prieto, Ana Igea, A. Núñez, Ángel Aledo‐Serrano, Araceli García, Beatriz Martínez Menéndez, B. Bertrán Recasens, Blanca Serrano Serrano, Blanca Talavera de la Esperanza, Carlos Pablo de Fuenmayor Fernández de la Hoz, C. Tejero Juste, Carmen Valderrama Martín, Cristina Fernández García, Marta Ochoa, Cristina Íñiguez, Daniel Macías García, David A. Pérez Martínez, Débora Ma. Cerdán Santacruz, Misericòrdia Floriach Robert, Elisabet Franquet Gomez, Elsa Puiggròs, Eric Freire Álvarez, Esteban Peña, Estibaliz Villareal, Eva Fernández-Díaz, Fernando Morejón Burguillos, Garazi Agirre Beitia, Gerardo Gutiérrez‐Gutiérrez, Guilherme Carvalho Monteiro, Guillermo Cervera Ygual, Guillermo Hernández, Guillermo Rubio, Hortenia Alonso, Iago Payo Froiz, Iago Rego García, I. Redondo Peñas, J.R. Pérez Sánchez, Javier Tejada García, Javier Villacieros‐Álvarez, Jéssica Fernández Domínguez, J. Porta‐Etessam, Jon Equiza, Jorge Millán Pascual, José Antonio Oliván Usieto, J. A. Reyes, José Balseiro Gómez, José Carlos Roche Bueno, J.L. Camacho Velásquez, José María Barrios López, Leire Ainz Raquel Lamas, Lidia Binela Lara Lezama, Lorena Caballero, Lucía Galán Dávila, N. Fernández González, Luís Antônio, M. Torres, Maite Martínez Zabaleta, Manuel Medina-Rodríguez, Marı́a D. Moragues, María Fuensanta Valero García, María M. Hernández, María José Abenza Abildúa, María Rabasa, M. Rico Santos, María Usero, M. Zurdo, M L Martinez Mas, Miren Maneiro, Montserrat González-Platas, Muriana Muriana, N. González Nafría, Oriol Barrachina Esteve, Pablo del Saz Saucedo, Rocío, Rosa M. Vilar Ventura, S Álvarez Atienza, Sandra Rodríguez Navas, Santiago Fernández Fernández, S. Raga Borja, Silvia Navarro, S. Kapetanovic García, Susana García-Cerro, Teresa Salas, Toni Palasí, V. Romero Cantero

    Хэвлэсэн 2020
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    Artigo
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