Works matching AU Arteche-López, Ana

Results: 13
    1

    Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.

    Published in:
    2022
    By:
    • Martín‐Jiménez, Paloma;
    • Fuenmayor‐Fernández de la Hoz, Carlos Pablo de;
    • Hernández‐Laín, Aurelio;
    • Arteche‐López, Ana;
    • Quesada‐Espinosa, Juan Francisco;
    • Voth, Ana Hernández;
    • Vesperinas, Ana;
    • Olivé, Montse;
    • Domínguez‐González, Cristina;
    • Martín-Jiménez, Paloma;
    • Fuenmayor-Fernández de la Hoz, Carlos Pablo de;
    • Hernández-Laín, Aurelio;
    • Arteche-López, Ana;
    • Quesada-Espinosa, Juan Francisco;
    • Domínguez-González, Cristina
    Publication type:
    Letter
    2
    3

    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.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249
    By:
    • Arteche‐López, Ana;
    • Avila‐Fernandez, Almudena;
    • Damian, Alejandra;
    • Soengas‐Gonda, Emma;
    • de la Fuente, Rubén Pérez;
    • Gómez, Patricia Ramos;
    • Merlo, Jesús Gallego;
    • Burgos, Laura Horcajada;
    • Fernández, Carlos Cemillán;
    • Rosales, Jose Miguel Lezana;
    • Martínez, Juan Francisco González;
    • Quesada‐Espinosa, Juan Francisco;
    • Corton, Marta;
    • Guerrero‐Molina, Maria Paz
    Publication type:
    Article
    4
    5
    6

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

    Published in:
    Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560
    By:
    • 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
    Publication type:
    Article
    7
    8

    Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021, v. 22, n. 7/8, p. 552, doi. 10.1080/21678421.2021.1927101
    By:
    • Llamas-Velasco, Sara;
    • Arteche-López, Ana;
    • Méndez-Guerrero, Antonio;
    • Puertas Martín, Verónica;
    • Quesada Espinosa, Juan Francisco;
    • Lezana Rosales, Jose Miguel;
    • González-Sánchez, Marta;
    • Blanco-Palmero, Victor Antonio;
    • Palma Milla, Carmen;
    • Herrero-San Martín, Alejandro;
    • Borrego-Hernández, Daniel;
    • García-Redondo, Alberto;
    • Pérez-Martínez, David Andrés;
    • Villarejo-Galende, Alberto
    Publication type:
    Article
    9

    SOD1 mutations in adult‐onset distal spinal muscular atrophy.

    Published in:
    European Journal of Neurology, 2020, v. 27, n. 11, p. e75, doi. 10.1111/ene.14426
    By:
    • de Fuenmayor‐Fernández de la Hoz, Carlos Pablo;
    • Hernández‐Laín, Aurelio;
    • Olivé, Montse;
    • Arteche López, Ana;
    • Esteban, Jesús;
    • Domínguez‐González, Cristina
    Publication type:
    Article
    10

    First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

    Published in:
    Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
    By:
    • Quesada-Espinosa, Juan F.;
    • Garzón-Lorenzo, Lucía;
    • Lezana-Rosales, José M.;
    • Gómez-Rodríguez, María J.;
    • Sánchez-Calvin, María T.;
    • Palma-Milla, Carmen;
    • Gómez-Manjón, Irene;
    • Hidalgo-Mayoral, Irene;
    • Pérez de la Fuente, Rubén;
    • Arteche-López, Ana;
    • Álvarez-Mora, María I.;
    • Camacho-Salas, Ana;
    • Cruz-Rojo, Jaime;
    • Lázaro-Rodríguez, Irene;
    • Morales-Conejo, Montserrat;
    • Nuñez-Enamorado, Noemí;
    • Bustamante-Aragones, Ana;
    • Simón de las Heras, Rogelio;
    • Gomez-Cano, María A.;
    • Ramos-Gómez, Patricia
    Publication type:
    Article
    11

    Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans.

    Published in:
    Liver International, 2023, v. 43, n. 8, p. 1822, doi. 10.1111/liv.15640
    By:
    • Córdoba‐Jover, Bernat;
    • Ribera, Jordi;
    • Portolés, Irene;
    • Lecue, Elena;
    • Rodriguez‐Vita, Juan;
    • Pérez‐Sisqués, Leticia;
    • Mannara, Francesco;
    • Solsona‐Vilarrasa, Estel;
    • García‐Ruiz, Carmen;
    • Fernández‐Checa, José C.;
    • Casals, Gregori;
    • Rodríguez‐Revenga, Laia;
    • Álvarez‐Mora, María Isabel;
    • Arteche‐López, Ana;
    • Díaz de Bustamante, Aranzazu;
    • Calvo, Rosa;
    • Pujol, Anna;
    • Azkargorta, Mikel;
    • Elortza, Felix;
    • Malagelada, Cristina
    Publication type:
    Article
    12

    First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
    By:
    • Moreno‐García, Marta;
    • Arteche‐López, Ana Rosa;
    • Álvarez‐Mora, María Isabel;
    • Palma Milla, Carmen;
    • Quesada Espinosa, Juan Francisco;
    • Lezana Rosales, José Miguel;
    • Sánchez Calvín, María Teresa;
    • Gómez Manjón, Irene;
    • Gómez Rodríguez, María José;
    • Mendez‐Guerrero, Antonio;
    • Villarejo‐Galende, Alberto
    Publication type:
    Article
    13