Výsledky vyhledávání - Belén Pérez‐Dueñas

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  1. 1
    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders Autor Marta Molero‐Luis, Mercedes Serrano, Aída Ormazábal, Belén Pérez‐Dueñas, Àngels García‐Cazorla, Roser Pons, Rafael Artuch

    Vydáno 2013
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  2. 2
    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    Thiamine transporter-2 deficiency: outcome and treatment monitoring Autor Juan Darío Ortigoza‐Escobar, Mercedes Serrano, Marta Molero, Alfonso Oyarzábal, Mónica Rebollo, Jordi Muchart, Rafael Artuch, Pilar Rodríguez‐Pombo, Belén Pérez‐Dueñas

    Vydáno 2014
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  3. 3
    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism Autor Dèlia Yubero, Núria Brandi, Aída Ormazábal, Àngels García‐Cazorla, Belén Pérez‐Dueñas, Jaime Campistol, Antònia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong

    Vydáno 2016
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  4. 4
    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations Autor Dídac Casas‐Alba, Antonio Federico Martínez‐Monseny, Rosa Pino, Laia Alsina, Esperanza Castejón, Sergi Navarro-Vilarrubí, Belén Pérez‐Dueñas, Mercedes Serrano, Francesc Palau, Alfredo García‐Alix

    Vydáno 2018
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  5. 5
    Cerebral Folate Deficiency Syndromes in Childhood

    Cerebral Folate Deficiency Syndromes in Childhood Autor Belén Pérez‐Dueñas, Aída Ormazábal, Claudio Toma, Bàrbara Torrico, Bru Cormand, Mercedes Serrano, Cristina Sierra, Elisa De Grandis, Mercè Pineda Marfà, Àngels García‐Cazorla, Jaime Campistol, Juan M. Pascual, Rafael Artuch

    Vydáno 2011
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  6. 6
    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

    Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors Autor Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero‐Luis, Niklas Darín, Ronen Spiegel, I.F.M. de Coo, Mike Gerards, Robert W. Taylor, Rafael Artuch, Marwan Nashabat, Pilar Rodríguez‐Pombo, Brahim Tabarki, Belén Pérez‐Dueñas

    Vydáno 2017
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  7. 7
    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea

    A homozygous<i>loss-of-function</i>mutation in<i>PDE2A</i>associated to early-onset hereditary chorea Autor Vincenzo Salpietro, Belén Pérez‐Dueñas, Kosuke Nakashima, Victoria San Antonio‐Arce, Andreea Manole, Stéphanie Efthymiou, Jana Vandrovcová, Conceição Bettencourt, Niccolò E. Mencacci, Christine Klein, Michy P. Kelly, Ceri H. Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden

    Vydáno 2018
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  8. 8
    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome Autor Juan Darío Ortigoza‐Escobar, Marta Molero‐Luis, Ángela Arias, Alfonso Oyarzábal, Niklas Darín, Mercedes Serrano, Àngels García‐Cazorla, Mireia Tondo, María Isabel Hernández, Judit García‐Villoria, Mercedes Casado, Laura Gort, Johannes A. Mayr, Pilar Rodríguez‐Pombo, Antònia Ribes, Rafael Artuch, Belén Pérez‐Dueñas

    Vydáno 2015
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  9. 9
    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases Autor Marta Molero‐Luis, Dídac Casas‐Alba, Gabriela Orellana, Aída Ormazábal, Cristina Sierra, Clara Oliva, Anna Valls, Jesús Velasco, Cristian Launes, Daniel Cuadras, Belén Pérez‐Dueñas, Iolanda Jordán, Francisco José Cambra Lasaosa, Juan Darío Ortigoza‐Escobar, Carmen Muñoz‐Almagro, Àngels García‐Cazorla, Thaís Armangué, Rafael Artuch

    Vydáno 2020
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  10. 10
    Clinical and Molecular Profiling in <scp>GNAO1</scp> Permits Phenotype–Genotype Correlation

    Clinical and Molecular Profiling in <scp>GNAO1</scp> Permits Phenotype–Genotype Correlation Autor Amaia Lasa‐Aranzasti, Yonika Arum Larasati, Juliana da Silva Cardoso, Gonzalo P. Solis, Alexey Koval, Ana Cazurro‐Gutiérrez, Juan Darío Ortigoza‐Escobar, Maria Concepción Miranda, Beatriz De la Casa‐Fages, Antonio Moreno, Eduardo F. Tizzano, David Gómez‐Andrés, Edgard Verdura, Vladimir L. Katanaev, Belén Pérez‐Dueñas

    Vydáno 2024
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  11. 11
    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment Autor Mercedes Serrano, Víctor de Diego, Jordi Muchart, Daniel Cuadras, Ana Felipe‐Rucián, Alfons Macaya, Ramón Velázquez, M. Pilar Poo, Carmen Fons, M. Mar O’Callaghan, Àngels García‐Cazorla, Cristina Martínez Boix, Bernabé Robles, Francisco Antonio Martínez-Carratalá, M. Girós, Paz Briones, Laura Gort, Rafael Artuch, Celia Pérez‐Cerdá, Jaak Jaeken, Belen Pérez, Belén Pérez‐Dueñas

    Vydáno 2015
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  12. 12
    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy Autor Mercè Izquierdo-Serra, Antonio Federico Martínez‐Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza‐Escobar, Oscar Coyoli García, Ramón Cancho‐Candela, M L Carrasco-Marina, Luis Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez‐Cerdá, Belen Pérez, Belén Pérez‐Dueñas, Alfons Macaya, José M. Fernández‐Fernández, Mercedes Serrano

    Vydáno 2018
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  13. 13
    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction Autor Raquel Montero, Dèlia Yubero, Joan Villarroya, Desirée Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, A. Nascimento, C. Ortez, Jaume Campistol, Belén Pérez‐Dueñas, Mar O’Callaghan, Mercédes Pineda, Ángeles García‐Cazorla, J. Colomer Oferil, Julio Montoya, Eduardo Ruiz‐Pesini, Sonia Emperador, Marija Meznarič, Laura Campderrós, Susana G. Kalko, Francesc Villarroya, Rafael Artuch, C. Jimenez‐Mallebrera

    Vydáno 2016
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  14. 14
    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics

    Transitional Care for Young People with Movement Disorders: <scp>Consensus‐Based</scp> Recommendations from the <scp>MDS</scp> Task Force on Pediatrics Autor Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan W. Mink, Alexander Münchau, Daniela Muñoz, Nardo Nardocci, Belén Pérez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

    Vydáno 2023
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  15. 15
    Phenotypic insights into <i>ADCY5</i> ‐associated disease

    Phenotypic insights into <i>ADCY5</i> ‐associated disease Autor Florence Chang, Ana Westenberger, Russell C. Dale, Martin Smith, Hardev Pall, Belén Pérez‐Dueñas, Padraic J. Grattan‐Smith, Robert Ouvrier, Neil Mahant, Bernadette Hanna, Matthew F. Hunter, John A. Lawson, Christoph Max, Rani Sachdev, Esther Meyer, D Crimmins, Donald Pryor, John G. Morris, A. Münchau, Detelina Grozeva, Keren Carss, Lucy Raymond, Manju A. Kurian, Christine Klein, Victor S.C. Fung

    Vydáno 2016
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  16. 16
    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp>

    <scp><i>DNAJC6</i></scp> Mutations Disrupt Dopamine Homeostasis in Juvenile <scp>Parkinsonism‐Dystonia</scp> Autor Joanne Ng, Elisenda Cortès‐Saladelafont, Lucia Abela, Pichet Termsarasab, Kshitij Mankad, Sniya Sudhakar, Kathleen M. Gorman, Simon J.R. Heales, Simon Pope, Lorenzo Biassoni, Barbara Csányi, J. R. Cain, Karl Rakshi, Helen Coutts, Sandeep Jayawant, Rosalind J Jefferson, Deborah Hughes, Àngels García‐Cazorla, Detelina Grozeva, F. Lucy Raymond, Belén Pérez‐Dueñas, Christian de Goede, Toni S. Pearson, Esther Meyer, Manju A. Kurian

    Vydáno 2020
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  17. 17
    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

    Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes Autor Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Julio Montoya, Paz Briones, Aleix Navarro‐Sastre, John M. Land, Iain P. Hargreaves, Rafael Artuch, María del Mar O’Callaghan, Cristina Jou, C. Jimenez‐Mallebrera, Núria Bujan, Mercè Pineda, Àngels García‐Cazorla, A. Nascimento, Belén Pérez‐Dueñas, Eduardo Ruiz‐Pesini, Carl Fratter, Leonardo Salviati, Marta Simões, Cândida Mendes, Maria João Santos, Luísa Diogo, Paula Garcia, Plácido Navas

    Vydáno 2013
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  18. 18
    Delineation of the movement disorders associated with <i>FOXG1</i> mutations

    Delineation of the movement disorders associated with <i>FOXG1</i> mutations Autor Apostolos Papandreou, Ruth B. Schneider, Erika F. Augustine, Joanne Ng, Kshitij Mankad, Esther Meyer, Amy McTague, Adeline Ngoh, Cheryl Hemingway, Robert Robinson, Sophia Varadkar, Maria Kinali, Vincenzo Salpietro, Margaret C. O'Driscoll, Sheikh Basheer, Richard Webster, Shekeeb S. Mohammad, Shpresa Pula, Marian McGowan, Natalie Trump, Lucy Jenkins, Frances Elmslie, Richard H. Scott, Jane A. Hurst, Belén Pérez‐Dueñas, Alexander Paciorkowski, Manju A. Kurian

    Vydáno 2016
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  19. 19
    The European Reference Network for Rare Neurological Diseases

    The European Reference Network for Rare Neurological Diseases Autor Carola Reinhard, Anne‐Catherine Bachoud‐Lévi, Tobias Bäumer, Enrico Bertini, Alicia Brunelle, Annemieke I. Buizer, Antonio Federico, Thomas Gasser, Samuel Groeschel, Sanja Hermanns, Thomas Klockgether, Ingeborg Krägeloh‐Mann, G. Bernhard Landwehrmeyer, Isabelle Leber, Alfons Macaya, Caterina Mariotti, Wassilios G. Meissner, Mária Judit Molnár, Jorik Nonnekes, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Lori Renna Linton, Lüdger Schöls, R. Schuele, Marina A.J. Tijssen, Rik Vandenberghe, Anna Volkmer, Nicole I. Wolf, Holm Graeßner

    Vydáno 2021
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  20. 20
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes Autor German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    Vydáno 2024
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