OSMOTIC REGULATION OF α-AMYLASE SYNTHESIS AND POLYRIBOSOME FORMATION IN ALEURONE CELLS OF BARLEY

por Armstrong, Judith E., Jones, Russell L.
Publicado 1973

Molecular Modelling Hurdle in the Next-Generation Sequencing Era

por Fernandez, Guerau, Yubero, Dèlia, Palau, Francesc, Armstrong, Judith
Publicado 2022

MECP2-Related Disorders in Males

por Pascual-Alonso, Ainhoa, Martínez-Monseny, Antonio F., Xiol, Clara, Armstrong, Judith
Publicado 2021

Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders

por Xiol, Clara, Heredia, Maria, Pascual-Alonso, Ainhoa, Oyarzabal, Alfonso, Armstrong, Judith
Publicado 2021

Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

por Pascual-Alonso, Ainhoa, Xiol, Clara, Smirnov, Dmitrii, Kopajtich, Robert, Prokisch, Holger, Armstrong, Judith
Publicado 2023

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

por Vidal, Silvia, Xiol, Clara, Pascual-Alonso, Ainhoa, O’Callaghan, M., Pineda, Mercè, Armstrong, Judith
Publicado 2019

Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

por Rodrigues, Filipa, Grenha, Joana, Ortez, Carlos, Nascimento, Andrés, Morte, Beatriz, M-Belinchón, Monica, Armstrong, Judith, Colomer, Jaume
Publicado 2014

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

por Vidal, Silvia, Pascual‐Alonso, Ainhoa, Rabaza‐Gairí, Marc, Gerotina, Edgar, Brandi, Nuria, Pacheco, Paola, Xiol, Clara, Pineda, Mercè, Armstrong, Judith
Publicado 2019

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

por López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Publicado 2018

Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1

por Piniella, Dolores, Canseco, Ania, Vidal, Silvia, Xiol, Clara, Díaz de Bustamante, Aránzazu, Martí-Carrera, Itxaso, Armstrong, Judith, Bastolla, Ugo, Zafra, Francisco
Publicado 2023

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

por Yubero, Dèlia, Brandi, Núria, Ormazabal, Aida, Garcia-Cazorla, Àngels, Pérez-Dueñas, Belén, Campistol, Jaime, Ribes, Antonia, Palau, Francesc, Artuch, Rafael, Armstrong, Judith
Publicado 2016

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

por Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith
Publicado 2019

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

por Lucariello, Mario, Vidal, Enrique, Vidal, Silvia, Saez, Mauricio, Roa, Laura, Huertas, Dori, Pineda, Mercè, Dalfó, Esther, Dopazo, Joaquin, Jurado, Paola, Armstrong, Judith, Esteller, Manel
Publicado 2016

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

por Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad
Publicado 2021

Comprehensive Analysis of GABA(A)-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

por Oyarzabal, Alfonso, Xiol, Clara, Castells, Alba Aina, Grau, Cristina, O’Callaghan, Mar, Fernández, Guerau, Alcántara, Soledad, Pineda, Mercè, Armstrong, Judith, Altafaj, Xavier, García-Cazorla, Angels
Publicado 2020

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2017

CDKL5 variants: Improving our understanding of a rare neurologic disorder

por Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S., Cobb, Stuart R.
Publicado 2017

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

por Vidal, Silvia, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, Blasco, Laura, Trotta, Jean-Rémi, Derdak, Sophia, del Mar O’Callaghan, Maria, Garcia-Cazorla, Àngels, Pineda, Mercè, Armstrong, Judith
Publicado 2021

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

por Amato, Maria Eugenia, Ricart, Silvia, Vicente, Maria Asunción, Martorell, Loreto, Armstrong, Judith, Fernández Isern, Guerau, Mascaro, José Manuel, Balsells, Sol, Alonso, Itziar, Serrano, Mercedes, Ortigoza‐Escobar, Juan Darío
Publicado 2023

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

por Yubero, Dèlia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernàndez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Mònica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc
Publicado 2021