Ana Arteche-López (A Arteche-López)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 6

Top Topics

Gene Expression

Duchenne Muscular Dystrophy

Genome Wide Identification

Top Venues

Journal of clinical medicine

European journal of human genetics : EJHG

Clinical genetics

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

Publications

Mariana I Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel Angel Martin, Cristina Domínguez-González
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies. Journal of clinical medicine 12 (9) (2023)
Mariana I Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz, Laura Bermejo-Guerrero, Ana Arteche-López, Aurelio Hernández-Laín, Miguel Angel Martin, Cristina Domínguez-González
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies. Journal of clinical medicine 12 (9) (2023)
Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez, Ángela Hernández-Martín, Jon Sánchez-Munárriz, Jose Miguel Lezana Rosales, Juan Francisco Quesada-Espinosa, Miguel Angel Martin, Ana Arteche-López
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma. Genes 14 (7) (2023)
Ana Arteche-López, Almudena Avila-Fernandez, Alejandra Damian, Emma Soengas-Gonda, Rubén Pérez de la Fuente, Patricia Ramos Gómez, Jesús Gallego Merlo, Laura Horcajada Burgos, Carlos Cemillán Fernández, Jose Miguel Lezana Rosales, Juan Francisco González Martínez, Juan Francisco Quesada-Espinosa, Marta Corton, Maria Paz Guerrero-Molina
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene. Clinical genetics (2022)
Ana Arteche-López, M I Álvarez-Mora, M T Sánchez Calvin, J M Lezana Rosales, C Palma Milla, M J Gómez Rodríguez, I Gomez Manjón, A Blázquez, A Juarez Rufián, P Ramos Gómez, O Sierra Tomillo, I Hidalgo Mayoral, Rubén Pérez de la Fuente, I J Posada Rodríguez, L I González Granado, Miguel Angel Martin, Juan Francisco Quesada-Espinosa, M Moreno-García
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. European journal of human genetics : EJHG 29 (10) (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)