Resultats de la cerca - Mireia del Toro

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  1. 1
    Prevalence of Psoriasis in Spain in the Age of Biologics

    Prevalence of Psoriasis in Spain in the Age of Biologics per Carlos Ferrándiz, J.M. Carrascosa, Mireia del Toro

    Publicat 2014
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  2. 2
    Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

    Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art per María José de Castro, Mireia del Toro, Roberto Giugliani, María L. Couce

    Publicat 2021
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  3. 3
    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases

    Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases per Giovanni Lerussi, Verónica Villagrasa-Araya, Marc Moltó‐Abad, Mireia del Toro, Guillem Pintos‐Morell, Joaquin Seras‐Franzoso, Ibane Abasolo

    Publicat 2025
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  4. 4
    Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

    Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes per Ester Cuenca-León, Roser Corominas, Noèlia Fernàndez‐Castillo, V. Volpini, Mireia del Toro, Manuel G. Roig, Alfons Macaya, Bru Cormand

    Publicat 2008
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  5. 5
    Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

    Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial per Frits A. Wijburg, Chester B. Whitley, Joseph Muenzer, Serena Gasperini, Mireia del Toro, Nicole Muschol, Maureen Cleary, Caroline Sevin, Elsa Shapiro, Parul Bhargava, Douglas A. Kerr, David Alexanderian

    Publicat 2018
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  6. 6
    Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey

    Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey per Karolina M. Stępień, Beata Kieć‐Wilk, Christina Lampe, Trine Tangeraas, Graziella Cefalo, Nadia Belmatoug, Rita Francisco, Mireia del Toro, Leona Wagner, Anne-Grethe Lauridsen, Sylvia Sestini, Nathalie Weinhold, Andreas Hahn, C Montanari, Valentina Rovelli, Cinzia Maria Bellettato, Laura Paneghetti, Corine van Lingen, Maurizio Scarpa

    Publicat 2021
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  7. 7
    Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

    Efficacy and safety of arimoclomol in <scp>Niemann‐Pick</scp> disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel... per Eugen Mengel, Marc C. Patterson, Rosalia Maria Da Riol, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grünewald, Sabine Grønborg, Paul Harmatz, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki‐Szymańska, Simon Day, Anne Katrine Andreasen, Marie Aavang Geist, Nikolaj H.T. Petersen, Linda Ingemann, Thomas Michael Hansen, Thomas Blaettler, Thomas Kirkegaard, Christine í Dali

    Publicat 2021
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  8. 8
    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study per Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado, Aline Cano, María L. Couce, Mireia del Toro, Maria Alice Donati, Ángeles García‐Cazorla, David Gil, Pedro Gomez-de Quero, Nathalie Guffon, Floris C. Hofstede, Sema Kalkan-Ucar, Mahmut Çöker, Rosa A. Lama‐More, Mercedes Martínez‐Pardo Casanova, Á. Molina, Samia Pichard, Francesco Papadia, Patricia Roselló, Céline Plisson, Jeannie Le Mouhaër, Anupam Chakrapani

    Publicat 2016
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  9. 9
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study per Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Publicat 2013
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  10. 10
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature per Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow

    Publicat 2012
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  11. 11
    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome per Silvia M. Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Campello Blasco, Jean-Rémi Trotta, Sophia Derdak, María del Mar O’Callaghan, Àngels García‐Cazorla, Mercè Pineda, Judith Armstrong, Francisco Javier Aguirre, Montserrat Aleu, Xènia Alonso, Mercè Alsius, Maria Inmaculada Amorós, Guillermo Antiñolo, Lourdes Aquino, María del Carmen Arellano Gálvez, Gema Arriola, Rosa Arteaga, Neus Baena, Montserrat Barcos, Nuria Belzunces, Susana Boronat, Tomás Camacho, Jaume Campistol, Miguel Del Campo, Andrea Campo, Ramon Cancho, R Candau, Ignacio Canós, María del Carmen Carrascosa, Francisco Carratalá-Marco, Carmen Jovaní Casano, P. Castro, Ana María Cobo, J. Colomer, David Conejo, Maria José Corrales, Rocío Jiménez Cortés, Gabriel Cruz, Gábor Csányi, María Teresa de Santos, María de Toledo, Mireia del Toro, Rosario Domingo‐Jiménez, Anna Duat, Rosario Duque, Ana María Esparza, Rosa Fernández, Maria Carme Fons, Ana Fontalba, Enrique Galán, P. Gallano, María José Gamundi, Pedro Luis García, María del Mar del Aguila García, María García‐Barcina, María Jesús Garcia-Catalan, Sixto García‐Miñaúr, Juan José García‐Peñas, María Teresa García‐Silva, Rosa Gassio, Esther Geán, Belén Gil, Sarenur Gökben, Luis A. González, Verónica Gómez González, Julieta González, Gloria González, Encarna Guillén‐Navarro, Míriam Guitart, Montserrat Guitet, Juan Manuel Gutiérrez, Eva Gutiérrez, J L Herranz, Gemma Iglesias, Iva Karačić, Carlos Lahoz, José I. Lao, Pablo Lapunzina, María Jesús Lautre-Ecenarro, María Dolores Lluch, Laura López de Frutos, Asunción López-Ariztegui, Alfons Macaya, Rosario Marín, Charles M. Lourenço Marquez, Elena Martín, Beatriz Martínez, Eduardo Martínez-Salcedo, María José Mas, Gonzálo Mateo, Pilar Méndez, Amparo Morant Jimenez, Sira Moreno, Fernando Mulas, Juan Narbona, A. Nascimento

    Publicat 2017
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  12. 12
    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients per Clara Xiol, Silvia M. Vidal, Ainhoa Pascual‐Alonso, Laura Campello Blasco, Núria Brandi, Paola Pacheco, Edgar Gerotina, Mar O’Callaghan, Mercè Pineda, Judith Armstrong, Francisco Javier Aguirre, Montserrat Aleu, Xènia Alonso, Mercè Alsius, Maria Inmaculada Amorós, Guillermo Antiñolo, Lourdes Aquino, María del Carmen Arellano Gálvez, Gema Arriola, Rosa Arteaga, Neus Baena, Montserrat Barcos, Nuria Belzunces, Susana Boronat, Tomás Camacho, Jaume Campistol, Miguel Del Campo, Andrea Campo, Ramon Cancho, R Candau, Ignacio Canós, María del Carmen Carrascosa, Francisco Carratalá-Marco, Carmen Jovaní Casano, Pedro Castro, Ana María Cobo, J. Colomer, David Conejo, Maria José Corrales, Rocío Jiménez Cortés, Gabriel Cruz, Gábor Csányi, María Teresa de Santos, María de Toledo, Miguel Del Campo, Mireia del Toro, Rosario Domingo‐Jiménez, Anna Duat, Rosario Duque, Ana María Esparza, Rosa Fernández, Maria Carme Fons, Ana Fontalba, Enrique Galán, P. Gallano, María José Gamundi, Pedro Luis García, María del Mar del Aguila García, María García‐Barcina, María Jesús Garcia-Catalan, Àngels García‐Cazorla, Sixto García‐Miñaúr, Juan José García‐Peñas, María Teresa García‐Silva, Rosa Gassio, Esther Geán, Belén Gil, Sarenur Gökben, Luís Miguel González, Verónica Gómez González, Julieta González, Gloria González, Encarna Guillén‐Navarro, Míriam Guitart, Montserrat Guitet, Juan Manuel Gutiérrez, Eva Gutiérrez, J L Herranz, Gemma Iglesias, Iva Karačić, Carlos Lahoz, José I. Lao, Pablo Lapunzina, María Jesús Lautre-Ecenarro, María Dolores Lluch, Laura López de Frutos, Asunción López-Ariztegui, Alfons Macaya, Rosario Marín, Charles M. Lourenço Marquez, Elena Martín, Beatriz Martínez, Eduardo Martínez-Salcedo, María José Mas, Gonzálo Mateo, Pilar Méndez, Amparo Morant Jimenez, Sira Moreno, Fernando Mulas, Juan Narbona

    Publicat 2019
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  13. 13
    Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome per Silvia M. Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Campello Blasco, Jean-Rémi Trotta, Sophia Derdak, María del Mar O’Callaghan, Àngels García‐Cazorla, Mercè Pineda, Judith Armstrong, Francisco Javier Aguirre, Montserrat Aleu, Xènia Alonso, Mercè Alsius, Maria Inmaculada Amorós, Guillermo Antiñolo, Lourdes Aquino, María del Carmen Arellano Gálvez, Gema Arriola, Rosa Arteaga, Neus Baena, Montserrat Barcos, Nuria Belzunces, Susana Boronat, Tomás Camacho, Jaume Campistol, Miguel Del Campo, Andrea Campo, Ramon Cancho, R Candau, Ignacio Canós, María del Carmen Carrascosa, Francisco Carratalá-Marco, Carmen Jovaní Casano, P. Castro, Ana María Cobo, J. Colomer, David Conejo, Maria José Corrales, Rocío Jiménez Cortés, Gabriel Cruz, Gábor Csányi, María Teresa de Santos, María de Toledo, Mireia del Toro, Rosario Domingo‐Jiménez, Anna Duat, Rosario Duque, Ana María Esparza, Rosa Fernández, Maria Carme Fons, Ana Fontalba, Enrique Galán, P. Gallano, María José Gamundi, Pedro Luis García, María del Mar del Aguila García, María García‐Barcina, María Jesús Garcia-Catalan, Sixto García‐Miñaúr, Juan José García‐Peñas, María Teresa García‐Silva, Rosa Gassio, Esther Geán, Belén Gil, Sarenur Gökben, Luís Miguel González, Verónica Gómez González, Julieta González, Gloria González, Encarna Guillén‐Navarro, Míriam Guitart, Montserrat Guitet, Juan Manuel Gutiérrez, Eva Gutiérrez, J L Herranz, Gemma Iglesias, Iva Karačić, Carlos Lahoz, José I. Lao, Pablo Lapunzina, María Jesús Lautre-Ecenarro, María Dolores Lluch, Laura López de Frutos, Asunción López-Ariztegui, Alfons Macaya, Rosario Marín, Charles M. Lourenço Marquez, Elena Martín, Beatriz Martínez, Eduardo Martínez-Salcedo, María José Mas, Gonzálo Mateo, Pilar Méndez, Amparo Morant Jimenez, Sira Moreno, Fernando Mulas, Juan Narbona, A. Nascimento

    Publicat 2021
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