Resultados da pesquisa - Mercédes Pineda

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  1. 1
    Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

    Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry Por Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, D Rosenberg, Mercédes Pineda

    Publicado em 2020
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  2. 2
    Natural history of Sanfilippo syndrome in Spain

    Natural history of Sanfilippo syndrome in Spain Por Verónica Delgadillo, María del Mar O’Callaghan, Laura Gort, María José Coll, Mercédes Pineda

    Publicado em 2013
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  3. 3
    Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages

    Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages Por Eugen Mengel, Mercédes Pineda, Christian J. Hendriksz, Mark Walterfang, Juan V. Torres, Stefan Kolb

    Publicado em 2016
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  4. 4
    Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

    Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective... Por Mercédes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolníková, Vĕra Malinová, José Luis Insua, Christian Velten, Stefan Kolb

    Publicado em 2019
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  5. 5
    <i>CDKL5</i> variants

    <i>CDKL5</i> variants Por Ralph D. Hector, Vera M. Kalscheuer, Friederike Hennig, Helen Leonard, Jenny Downs, Angus Clarke, Tim A. Benke, Judith Armstrong, Mercédes Pineda, Mark E.S. Bailey, Stuart Cobb

    Publicado em 2017
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  6. 6
    A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

    A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C) Por Mercédes Pineda, Eugen Mengel, Helena Jahnová, Bénédicte Héron, Jackie Imrie, Charles Marques Lourenço, Vanessa van der Linden, Parvaneh Karimzadeh, Vassili Valayannopoulos, Pavel Ješina, Juan V. Torres, Stefan Kolb

    Publicado em 2016
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  7. 7
    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome Por Sofia Duarte, Judith Armstrong, Ana Roche, C. Ortez, Ana Paula da Silva Perez, María del Mar O’Callaghan, Antonina Pereira, Francesc Sanmartí, Aída Ormazábal, Rafael Artuch, Mercédes Pineda, Àngels García‐Cazorla

    Publicado em 2013
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  8. 8
    Expanding the clinical phenotypes of MT-ATP6 mutations

    Expanding the clinical phenotypes of MT-ATP6 mutations Por Ester López‐Gallardo, Sonia Emperador, Abelardo Solano, Laura Llobet, Antonio Martín‐Navarro, Manuel J. López‐Pérez, Paz Briones, Mercédes Pineda, Rafael Artuch, Elena Barraquer, Ivonne Jericó, Eduardo Ruiz‐Pesini, Julio Montoya

    Publicado em 2014
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  9. 9
    Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy

    Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy Por Virginia Haurigot, Sara Marcó, Albert Ribera, Miquel García, Albert Ruzo, Pilar Villacampa, Eduard Ayuso, Sònia Añor, Anna Andaluz, Mercédes Pineda, Gemma García‐Fructuoso, Maria Molas, Luca Maggioni, Sergio Muñoz, Sandra Motas, Jesús Ruberte, Federico Mingozzi, Martı́ Pumarola, Fátima Bosch

    Publicado em 2013
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  10. 10
    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

    Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) Por Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn

    Publicado em 2022
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  11. 11
    Consensus clinical management guidelines for Niemann-Pick disease type C

    Consensus clinical management guidelines for Niemann-Pick disease type C Por Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T., Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J., Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A., Ory, Daniel, Bembi, Bruno, Patterson, Marc

    Publicado em 2018
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  12. 12
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database Por Andreea Nissenkorn, Rachel S. Levy‐Drummer, Ori Bondi, Alessandra Renieri, Laurent Villard, Francesca Mari, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Ilaria Meloni, Mercédes Pineda, Judith Armstrong, Angus Clarke, Nadia Bahi‐Buisson, Bosnjak Vlatka Mejaski, Milena Djurić, Dana Craiu, Alexsandra Djukic, Giorgio Pini, Anne‐Marie Bisgaard, Béla Melegh, Aglaia Vignoli, Silvia Russo, C. Anghelescu, Edvige Veneselli, Joussef Hayek, Bruria Ben Zeev

    Publicado em 2015
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  13. 13
    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations Por Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Līvija Medne, Jodie M. Vento, Kimberly A. Chapman, Brendan C. Lanpher, Phillip L. Pearl, Andrea Gropman, Charles Marques Lourenço, J. Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf A. Bodamer, Simona Orcesi, Saskia A.J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, C. Bönnemann, Amy Waldman, Marjo S. van der Knaap

    Publicado em 2013
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  14. 14
    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability Por Mauricio Saéz, Juana Fernández‐Rodríguez, Cátia Moutinho, José V. Sánchez‐Mut, Antonio Gómez, Enrique Vidal, Paolo Petazzi, Karolina Szczęsna, Paula López-Serra, Mario Lucariello, Patricia Lorden, Raúl Delgado‐Morales, Olga J. de la Caridad, Dori Huertas, Josep Lluis Gelpí, Modesto Orozco, Adriana López‐Doriga, Montserrat Milá, Luis A. Pérez‐Jurado, Mercédes Pineda, Judith Armstrong, Conxi Lázaro, Manel Esteller

    Publicado em 2015
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  15. 15
    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 Por 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

    Publicado em 2016
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  16. 16
    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence

    Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence Por Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M. Ward, Craig Munns, Kathleen J. Motil, Daniel Tarquinio, Jay R. Shapiro, Torkel B. Brismar, Bruria Ben‐Zeev, Anne‐Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane B. Lane, Gerry Larsson, Meir Lotan, Alan K. Percy, Mercédes Pineda, Steven A. Skinner, Birgit Syhler, Sue Ann Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs

    Publicado em 2016
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  17. 17
    Clinical course of sly syndrome (mucopolysaccharidosis type VII)

    Clinical course of sly syndrome (mucopolysaccharidosis type VII) Por Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner, Brett H. Graham, Marina Szlago, Robert M. Greenstein, Mercédes Pineda, Antonio González‐Meneses, Mahmut Çöker, Dennis Bartholomew, Mark S. Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory M. Pastores, Anastasia Ketko, Fatih Süheyl Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E. Falk, Kaustuv Bhattacharya, José Francisco da Silva Franco, Klane K. White, Grant A. Mitchell, Loreta Cimbalistienė, Max Holtz, William S. Sly

    Publicado em 2016
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  18. 18
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database Por Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben‐Zeev, Mercédes Pineda, Nadia Bahi‐Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martínez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djurić, Anne‐Marie Bisgaard, Kirstine Ravn, Vlatka Mejaški Bošnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, V. Yu. Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Publicado em 2019
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  19. 19
    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants Por Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden

    Publicado em 2020
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  20. 20
    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 Por 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

    Publicado em 2019
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