Search Results - Judith Armstrong

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  1. 1

    Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach by Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Robert Kopajtich, Holger Prokisch, Judith Armstrong

    Published in Human Genomics (2023-09-01)
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  2. 2

    Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis by Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong

    Published in Molecular Genetics & Genomic Medicine (2019-08-01)
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  3. 3

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. by Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group

    Published in PLoS ONE (2016-01-01)
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  4. 4

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy by Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, Mar O’Callaghan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara

    Published in Biomedicines (2021-02-01)
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  5. 5

    Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report by Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar

    Published in Clinical Case Reports (2023-04-01)
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  6. 6

    Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome by Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group

    Published in Scientific Reports (2021-09-01)
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  7. 7

    <i>MECP2</i> Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables by Lourdes Vega-Hanna, Dídac Casas-Alba, Sol Balsells, Mercè Bolasell, Patricia Rubio, Ana García-García, Oscar García-García, Mar O’Callaghan, Ainhoa Pascual-Alonso, Judith Armstrong, MDS Group, Antonio F. Martinez-Monseny

    Published in Diagnostics (2024-12-01)
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  8. 8

    New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients by Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido

    Published in Molecular Genetics & Genomic Medicine (2019-11-01)
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  9. 9

    Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling by Catarina Miranda-Lourenço, Sofia T. Duarte, Cátia Palminha, Cláudia Gaspar, Tiago M. Rodrigues, Teresa Magalhães-Cardoso, Nádia Rei, Mariana Colino-Oliveira, Rui Gomes, Sara Ferreira, Jéssica Rosa, Sara Xapelli, Judith Armstrong, Àngels García-Cazorla, Paulo Correia-de-Sá, Ana M. Sebastião, Maria José Diógenes

    Published in Neurobiology of Disease (2020-11-01)
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  10. 10

    Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie 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

    Published in Orphanet Journal of Rare Diseases (2024-05-01)
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  11. 11

    Correction to: Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie 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

    Published in Orphanet Journal of Rare Diseases (2024-10-01)
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  12. 12

    Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease by Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria del Mar O’Callaghan, Alberto Pérez del Soto, Yolanda Ruiz del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo

    Published in Orphanet Journal of Rare Diseases (2017-05-01)
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  13. 13

    Analysis of the Phenotypes in the Rett Networked Database by Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

    Published in International Journal of Genomics (2019-01-01)
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  14. 14

    Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders by Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla

    Published in Orphanet Journal of Rare Diseases (2016-11-01)
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