Found: 4

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  • Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11847, doi. 10.3390/ijms231911847
    By:
    • Martínez-Rubio, Dolores;
    • Hinarejos, Isabel;
    • Sancho, Paula;
    • Gorría-Redondo, Nerea;
    • Bernadó-Fonz, Raquel;
    • Tello, Cristina;
    • Marco-Marín, Clara;
    • Martí-Carrera, Itxaso;
    • Martínez-González, María Jesús;
    • García-Ribes, Ainhoa;
    • Baviera-Muñoz, Raquel;
    • Sastre-Bataller, Isabel;
    • Martínez-Torres, Irene;
    • Duat-Rodríguez, Anna;
    • Janeiro, Patrícia;
    • Moreno, Esther;
    • Pías-Peleteiro, Leticia;
    • Gordo, Mar O'Callaghan;
    • Ruiz-Gómez, Ángeles;
    • Muñoz, Esteban
    Publication type:
    Article

  • The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
    By:
    • Sánchez‐Lijarcio, Obdulia;
    • Yubero, Delia;
    • Leal, Fátima;
    • Couce, María L.;
    • González Gutiérrez‐Solana, Luis;
    • López‐Laso, Eduardo;
    • García‐Cazorla, Àngels;
    • Pías‐Peleteiro, Leticia;
    • de Azua Brea, Begoña;
    • Ibáñez‐Micó, Salvador;
    • Mateo‐Martínez, Gonzalo;
    • Troncoso‐Schifferli, Monica;
    • Witting‐Enriquez, Scarlet;
    • Ugarte, Magdalena;
    • Artuch, Rafael;
    • Pérez, Belén
    Publication type:
    Article

  • Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554
    By:
    • Peters, Tessa M. A.;
    • Merx, Jona;
    • Kooijman, Pieter C.;
    • Noga, Marek;
    • de Boer, Siebolt;
    • van Gemert, Loes A.;
    • Salden, Guido;
    • Engelke, Udo F. H.;
    • Lefeber, Dirk J.;
    • van Outersterp, Rianne E.;
    • Berden, Giel;
    • Boltje, Thomas J.;
    • Artuch, Rafael;
    • Pías‐Peleteiro, Leticia;
    • García‐Cazorla, Ángeles;
    • Barić, Ivo;
    • Thöny, Beat;
    • Oomens, Jos;
    • Martens, Jonathan;
    • Wevers, Ron A.
    Publication type:
    Article

  • Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

    Published in:
    2022
    By:
    • Juliá‐Palacios, Natalia;
    • Molina‐Anguita, Cristina;
    • Sigatulina Bondarenko, María;
    • Cortès‐Saladelafont, Elisenda;
    • Aparicio, Javier;
    • Cuadras, Daniel;
    • Horvath, Gabriella;
    • Fons, Carmen;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Ulate‐Campos, Adriana;
    • Darling, Alejandra;
    • O'Callaghan, Mar;
    • Pías‐Peleteiro, Leticia;
    • Ormazabal, Aida;
    • Mussarra, Clara Oliva;
    • Valera, Carlos;
    • Ramírez‐Camacho, Alia;
    • Juliá-Palacios, Natalia;
    • Molina-Anguita, Cristina
    Publication type:
    journal article