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

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

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

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

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers

por Torabi, Keyvan, Erola, Pau, Alvarez‐Mora, Maria Isabel, Díaz‐Gay, Marcos, Ferrer, Queralt, Castells, Antoni, Castellví‐Bel, Sergi, Milà, Montserrat, Lozano, Juan José, Miró, Rosa, Ried, Thomas, Ponsa, Immaculada, Camps, Jordi
Publicado 2018

Spontaneous Abortion Associated with Zika Virus Infection and Persistent Viremia

por Goncé, Anna, Martínez, Miguel J., Marbán-Castro, Elena, Saco, Adela, Soler, Anna, Alvarez-Mora, Maria Isabel, Peiro, Aida, Gonzalo, Verónica, Hale, Gillian, Bhatnagar, Julu, López, Marta, Zaki, Sherif, Ordi, Jaume, Bardají, Azucena
Publicado 2018

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

Creatine Kinase Elevation in Autosomal Dominant Polycystic Kidney Disease Patients on Tolvaptan Treatment

por Rodríguez-Espinosa, Diana, Broseta, José Jesús, Bastida, Carla, Álvarez-Mora, María Isabel, Nicolau, Carlos, Alvarez, Cristina, Agraz-Pamplona, Irene, Sánchez-Baya, Maya, Furlano, Mónica, Ruiz, César, Quintana, Luis F., Piñeiro, Gastón J., Poch, Esteban, Torra-Balcells, Roser, Blasco, Miquel
Publicado 2023

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

Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review

por Gómez-Rodríguez, Maria Jose, Morales-Conejo, Montserrat, Arteche-López, Ana, Sánchez-Calvín, Maria Teresa, Quesada-Espinosa, Juan Francisco, Gómez-Manjón, Irene, Palma-Milla, Carmen, Lezana-Rosales, Jose Miguel, Pérez de la Fuente, Ruben, Martin-Ramos, Maria-Luisa, Fernández-Guijarro, Manuela, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Publicado 2022

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

por Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Publicado 2022

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test

por Arteche-López, Ana, Gómez Rodríguez, Maria José, Sánchez Calvin, Maria Teresa, Quesada-Espinosa, Juan Francisco, Lezana Rosales, Jose Miguel, Palma Milla, Carmen, Gómez-Manjón, Irene, Hidalgo Mayoral, Irene, Pérez de la Fuente, Rubén, Díaz de Bustamante, Arancha, Darnaude, María Teresa, Gil-Fournier, Belén, Ramiro León, Soraya, Ramos Gómez, Patricia, Sierra Tomillo, Olalla, Juárez Rufián, Alexandra, Arranz Cano, Maria Isabel, Villares Alonso, Rebeca, Morales-Pérez, Pablo, Segura-Tudela, Alejandro, Camacho, Ana, Nuñez, Noemí, Simón, Rogelio, Moreno-García, Marta, Alvarez-Mora, Maria Isabel
Publicado 2021