Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology

por Rodriguez-Revenga, Laia, Alvarez-Mora, Maria Isabel
Publicado 2022

Editorial: Proceedings of the “Fourth International Conference of the FMR1 Premutation: Basic Mechanisms, Clinical Involvement and Therapy”

por Usdin, Karen, Rodriguez-Revenga, Laia, Willemsen, Rob, Hukema, Renate, Giulivi, Cecilia
Publicado 2021

Have maternal or paternal ages any impact on the prenatal incidence of genomic copy number variants associated with fetal structural anomalies?

por Larroya, Marta, Tortajada, Marta, Mensión, Eduard, Pauta, Montse, Rodriguez-Revenga, Laia, Borrell, Antoni
Publicado 2021

Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review

por Elias-Mas, Andrea, Alvarez-Mora, Maria Isabel, Caro-Benito, Conxita, Rodriguez-Revenga, Laia
Publicado 2021

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing

por Alvarez-Mora, Maria Isabel, Corominas, Jordi, Gilissen, Christian, Sanchez, Aurora, Madrigal, Irene, Rodriguez-Revenga, Laia
Publicado 2021

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

por Álvarez-Mora, María Isabel, Sánchez, Aurora, Rodríguez-Revenga, Laia, Corominas, Jordi, Rabionet, Raquel, Puig, Susana, Madrigal, Irene
Publicado 2022

A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

por Pauta, Montse, Badenas, Cèlia, Rodriguez-Revenga, Laia, Soler, Anna, Grande, Maribel, Sabrià, Joan, Illanes, Carmen, Borobio, Virginia, Borrell, Antoni
Publicado 2021

Effect of AGG Interruptions on FMR1 Maternal Transmissions

por Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel
Publicado 2020

Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin‐1

por Muñoz, Esteban, Jodar, Meritxell, Guerrero, Jairo, Compta, Yaroslau, Perissinotti, Andrés, Álvarez‐Mora, Maria I., Falgàs, Neus, Rodríguez‐Revenga, Laia, Sánchez‐Valle, Raquel
Publicado 2022

Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research

por Alvarez-Mora, Maria Isabel, Garrabou, Glòria, Molina-Porcel, Laura, Grillo-Risco, Ruben, Garcia-Garcia, Francisco, Barcos, Tamara, Cantó-Santos, Judith, Rodriguez-Revenga, Laia
Publicado 2023

Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

por Alvarez-Mora, Maria Isabel, Agusti, Ines, Wijngaard, Robin, Martinez-Barrios, Estefania, Barcos, Tamara, Borras, Aina, Peralta, Sara, Guimera, Marta, Goday, Ana, Manau, Dolors, Rodriguez-Revenga, Laia
Publicado 2022

Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients

por Alvarez-Mora, Maria Isabel, Garrabou, Gloria, Barcos, Tamara, Garcia-Garcia, Francisco, Grillo-Risco, Ruben, Peruga, Emma, Gort, Laura, Borrego-Écija, Sergi, Sanchez-Valle, Raquel, Canto-Santos, Judith, Navarro-Navarro, Paula, Rodriguez-Revenga, Laia
Publicado 2022

Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome

por Elias-Mas, Andrea, Potrony, Miriam, Bague, Jaume, Cutler, David J., Alvarez-Mora, Maria Isabel, Torres, Teresa, Barcos, Tamara, Puig-Butille, Joan Anton, Rubio, Marta, Madrigal, Irene, Puig, Susana, Allen, Emily G., Rodriguez-Revenga, Laia
Publicado 2023

Associated features in females with an FMR1 premutation

por Wheeler, Anne C, Bailey Jr, Donald B, Berry-Kravis, Elizabeth, Greenberg, Jan, Losh, Molly, Mailick, Marsha, Milà, Montserrat, Olichney, John M, Rodriguez-Revenga, Laia, Sherman, Stephanie, Smith, Leann, Summers, Scott, Yang, Jin-Chen, Hagerman, Randi
Publicado 2014

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

por Alvarez-Mora, María Isabel, Rodríguez-Revenga, Laia, Jodar, Meritxell, Potrony, Miriam, Sanchez, Aurora, Badenas, Celia, Oriola, Josep, Villanueva-Cañas, José Luis, Muñoz, Esteban, Valldeoriola, Francesc, Cámara, Ana, Compta, Yaroslau, Carreño, Mar, Martí, María Jose, Sánchez-Valle, Raquel, Madrigal, Irene
Publicado 2023

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

por Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
Publicado 2022

Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation

por Trevino, Cristina E., Rounds, J. Christopher, Charen, Krista, Shubeck, Lisa, Hipp, Heather S., Spencer, Jessica B., Johnston, H. Richard, Cutler, Dave J., Zwick, Michael E., Epstein, Michael P., Murray, Anna, Macpherson, James N., Mila, Montserrat, Rodriguez-Revenga, Laia, Berry-Kravis, Elizabeth, Hall, Deborah A., Leehey, Maureen A., Liu, Ying, Welt, Corrine, Warren, Stephen T., Sherman, Stephanie L., Jin, Peng, Allen, Emily G.
Publicado 2021