Maria Isabel Alvarez-Mora (María Isabel Alvarez-Mora)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 13

Top Topics

Clinical Practice

Autism Spectrum Disorder

Cognitive Impairment

Top Venues

Journal of clinical medicine

Antioxidants (Basel, Switzerland)

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 14 (4) (2023)
Maria Isabel Alvarez-Mora, Gloria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga
Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research. Cells 12 (19) (2023)
Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 14 (4) (2023)
Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 14 (4) (2023)
Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga, Meritxell Jodar, Miriam Potrony, Aurora Sanchez, Celia Badenas, Josep Oriola, José Luis Villanueva-Cañas, Esteban Muñoz, Francesc Valldeoriola, Ana Cámara, Yaroslau Compta, Mar Carreño, María Jose Martí, Raquel Sánchez-Valle, Irene Madrigal
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. Genes 14 (4) (2023)
Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa, Juan Francisco Quesada-Espinosa, José Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. Journal of clinical medicine 11 (13) (2022)
Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gomez-Manjon, Carmen Palma Milla, Jose Miguel Lezana Rosales, Rubén Pérez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernández-Guijarro, Marta Moreno-García, Maria Isabel Alvarez-Mora
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes 13 (9) (2022)
Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos, Francisco García-García, Ruben Grillo-Risco, Emma Peruga, Laura Gort, Sergi Borrego-Écija, Raquel Sanchez-Valle, Judith Canto-Santos, Paula Navarro-Navarro, Laia Rodriguez-Revenga
Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients. Antioxidants (Basel, Switzerland) 11 (6) (2022)
Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings. International journal of molecular sciences 23 (8) (2022)
Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, Estefania Martinez-Barrios, Tamara Barcos, Aina Borrás, Sara Peralta, Marta Guimera, Anna Goday, Dolors Manau, Laia Rodriguez-Revenga
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). Journal of clinical medicine 11 (8) (2022)
Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora
Special Issue: Genetics of Psychiatric Disease and the Basics of Neurobiology. Genes 13 (11) (2022)
Maria Isabel Alvarez-Mora, Jordi Corominas, Christian Gilissen, Aurora Sanchez, Irene Madrigal, Laia Rodriguez-Revenga
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing. Genes 12 (4) (2021)
Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gomez-Manjon, Irene Hidalgo Mayoral, Rubén Pérez de la Fuente, Arancha Díaz de Bustamante, María Teresa Darnaude, Belén Gil-Fournier, Soraya Ramiro León, Patricia Ramos Gómez, Olalla Sierra Tomillo, Alexandra Juárez Rufián, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Pérez, Alejandro Segura-Tudela, Ana Camacho, Noemí Nuñez, Rogelio Simón, Marta Moreno-García, Maria Isabel Alvarez-Mora
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test. Genes 12 (4) (2021)