תוצאות חיפוש - Judith Armstrong

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  1. 1
    MECP2-Related Disorders in Males

    MECP2-Related Disorders in Males מאת Ainhoa Pascual‐Alonso, Antonio Federico Martínez‐Monseny, Clara Xiol, Judith Armstrong

    יצא לאור 2021
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    Revisão
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  2. 2
    Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

    Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges מאת Silvia M. Vidal, Clara Xiol, Ainhoa Pascual‐Alonso, Mar O’Callaghan, Mercè Pineda, Judith Armstrong

    יצא לאור 2019
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    Revisão
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  3. 3
    CpGPT: a Foundation Model for DNA Methylation

    CpGPT: a Foundation Model for DNA Methylation מאת Lucas Paulo de Lima Camillo, Raghav Sehgal, Judith Armstrong, Albert Higgins‐Chen, Steve Horvath, Bo Wang

    יצא לאור 2024
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    Pré-impressão
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  4. 4
    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum מאת María López, A. García Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García‐Miñaúr, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez-Garrido

    יצא לאור 2018
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    Artigo
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  5. 5
    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

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

    יצא לאור 2016
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    Artigo
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  6. 6
    <i>CDKL5</i> variants

    <i>CDKL5</i> variants מאת 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

    יצא לאור 2017
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    Artigo
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  7. 7
    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype מאת Mario Lucariello, Enrique Vidal, Silvia M. Vidal, Mauricio A. Sáez, Laura M. Roa, Dori Huertas, Mercè Pineda, Esther Dalfó, Joaquı́n Dopazo, Paola Jurado, Judith Armstrong, Manel Esteller

    יצא לאור 2016
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    Artigo
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  8. 8
    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 מאת 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

    יצא לאור 2013
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    Artigo
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  9. 9
    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas מאת Patricia Sarrión, Anna Sangorrin, Roser Urreizti, María Andrea Delgado, Rafael Artuch, Loreto Martorell, Judith Armstrong, Jordi Antón, Ferrán Torner, Marina Vilaseca, Julián Nevado, Pablo Lapunzina, Carla Asteggiano, Susana Balcells, Daniel Grinberg

    יצא לאור 2013
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    Artigo
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  10. 10
    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders מאת Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda, Jesús Manuel Eirís Puñal, María L. Couce, Manuel Castro‐Gago, José M. Fraga, Lúcia Lacerda, Sofía Gouveia, María Pérez-Poyato, Judith Armstrong, Daisy Castiñeiras, José A. Cocho

    יצא לאור 2014
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    Artigo
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  11. 11
    NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome

    NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome מאת Edilene Siqueira Soares, Cecilia D. Velasco, Ariadna Tarrasón, Marta Soler, Tara Srinivas, Fernando Setién, Cristina Oliveira-Mateos, Marta Casado-Peláez, Laura Martinez‐Verbo, Judith Armstrong, Manel Esteller, Letícia Ferreira Alves, Artur Llobet, Sònia Guil

    יצא לאור 2025
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    Artigo
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  12. 12
    Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study

    Effects of Formalin Fixation, Paraffin Embedding, and Time of Storage on DNA Preservation in Brain Tissue: A BrainNet Europe Study מאת Isidró Ferrer, Judith Armstrong, Sabina Capellari, Piero Parchi, Thomas Arzberger, Jeanne E. Bell, Herbert Budka, Thomas Ströbel, Giorgio Giaccone, Giacomina Rossi, Nenad Bogdanović, Peter Fakai, Andrea Schmitt, Peter Riederers, Safa Al‐Sarraj, Rivka Ravid, Hans A. Kretzschmar

    יצא לאור 2007
    קבל טקסט מלא
    Artigo
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  13. 13
    Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome

    Analysis of the circRNA and T-UCR populations identifies convergent pathways in mouse and human models of Rett syndrome מאת Edilene Siqueira Soares, Aida Obiols-Guardia, Olga C. Jorge-Torres, Cristina Oliveira-Mateos, Marta Soler, Deepthi Ramesh, Fernando Setién, Daniëlle van Rossum, Ainhoa Pascual‐Alonso, Clara Xiol, Cristina Ivan, Masayoshi Shimizu, Judith Armstrong, George A. Călin, R. Jeroen Pasterkamp, Manel Esteller, Sònia Guil

    יצא לאור 2021
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    Artigo
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  14. 14
    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

    Novel FOXG1 mutations associated with the congenital variant of Rett syndrome מאת Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Rosangela Artuso, Dalila Rondinella, Roberta De Filippis, Nadia Bahi‐Buisson, Juliette Nectoux, R. Rubinsztajn, Thierry Bienvenu, A. Moncla, B. Chabrol, Laurent Villard, Zita Krūmiņa, Judith Armstrong, Ana Roche, M. Pineda, Eva Gak, Francesca Mari, Francesca Ariani, Alessandra Renieri

    יצא לאור 2009
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    Artigo
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  15. 15
    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA

    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA מאת Nicole Revençu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulàlia Baselga, Claudia Cesario, Maria Lisa Dentici, Mélanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene‐Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger‐Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf‐Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula

    יצא לאור 2024
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    Artigo
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  16. 16
    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 מאת 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

    יצא לאור 2011
    קבל טקסט מלא
    Artigo
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  17. 17
    Epilepsy in Rett syndrome—Lessons from the Rett networked database

    Epilepsy in Rett syndrome—Lessons from the Rett networked database מאת 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

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  18. 18
    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability

    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability מאת 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

    יצא לאור 2015
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    Artigo
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  19. 19
    Analysis of the Phenotypes in the Rett Networked Database

    Analysis of the Phenotypes in the Rett Networked Database מאת 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

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
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  20. 20
    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders מאת Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcová, Stéphanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Bürglen, Stéphanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Rosa Pisani, Conceição Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Guéden, Omer Bar‐Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago‐Sim, Richard Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong‐Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad Mahdi Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz‐Rogers, Eric W. Klee, David A. Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier González‐Peñas, Ángel Carracedo, Arie van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Héron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Michael G. Hanna, Enrico Bugiardini, Isabel C. Hostettler, Benjamin O’Callaghan, Alaa Khan, Andrea Cortese, Emer O’Connor, Wai Y. Yau, Thomas Bourinaris, Rauan Kaiyrzhanov, Viorica Chelban, M Madej, Maria C. Diana, Maria S. Vari, Marina Pedemonte, Claudio Bruno, Ganna Balagura, Marcello Scala, Chiara Fiorillo, Lino Nobili, Nancy T. Malintan, M. Natalia Zanetti, Shyam S. Krishnakumar, Gabriele Lignani, James E.C. Jepson, Paolo Broda, Sımona Baldassari, Pia Rossi, Floriana Fruscione, Francesca Madia

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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