Works by López‐Martín, Estrella

Results: 5
    1

    Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599
    By:
    • Cordovado, Amélie;
    • Hérenger, Yvan;
    • Cormier, Coline;
    • López-Martín, Estrella;
    • Stamberger, Hannah;
    • Faivre, Laurence;
    • Denommé-Pichon, Anne-Sophie;
    • Vitobello, Antonio;
    • Abdallah, Hamza Hadj;
    • Barcia, Giulia;
    • Courtin, Thomas;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Barrero, María J.;
    • Gasser, Brooklynn;
    • Bezieau, Stéphane;
    • Küry, Sébastien;
    • Weckhuysen, Sarah;
    • Laumonnier, Frédéric;
    • Toutain, Annick
    Publication type:
    Article
    2

    Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051
    By:
    • Komulainen‐Ebrahim, Jonna;
    • Kangas, Salla M.;
    • López‐Martín, Estrella;
    • Feyma, Timothy;
    • Scaglia, Fernando;
    • Martínez‐Delgado, Beatriz;
    • Kuismin, Outi;
    • Suo‐Palosaari, Maria;
    • Carr, Lucinda;
    • Hinttala, Reetta;
    • Kurian, Manju A.;
    • Uusimaa, Johanna
    Publication type:
    Article
    3

    Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9480, doi. 10.3390/ijms23169480
    By:
    • Baladron, Beatriz;
    • Mielu, Lidia M.;
    • López-Martín, Estrella;
    • Barrero, Maria J.;
    • Lopez, Lidia;
    • Alvarado, Jose I.;
    • Monzón, Sara;
    • Varona, Sarai;
    • Cuesta, Isabel;
    • Cazorla, Rosario;
    • Lara, Julián;
    • Iglesias, Gemma;
    • Román, Enriqueta;
    • Ros, Purificación;
    • Gomez-Mariano, Gema;
    • Cubillo, Isabel;
    • Miguel, Esther Hernandez-San;
    • Rivera, Daniel;
    • Alonso, Javier;
    • Bermejo-Sánchez, Eva
    Publication type:
    Article
    4

    SpainUDP: The Spanish Undiagnosed Rare Diseases Program.

    Published in:
    International Journal of Environmental Research & Public Health, 2018, v. 15, n. 8, p. 1746, doi. 10.3390/ijerph15081746
    By:
    • López-Martín, Estrella;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Alonso, Javier;
    • Posada, Manuel
    Publication type:
    Article
    5