Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X.

    Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): . Nº de cites: 1

    [doi:10.1002/jimd.70015]

  • Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL.

    The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051. Nº de cites: 1

    [doi:10.1016/j.ymgme.2025.109051]

  • Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.

    Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome

    PEDIATRIC RESEARCH . 97(2): 751-762. Nº de cites: 1

    [doi:10.1038/s41390-024-03254-9]

  • Julià-Palacios NA, Munoz-Pujol, Gerard, Maroofian, Reza, Bertoli-Avella, Aida M, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, Abraham J, O'Callaghan-Gordo M, Machado-Casas, Irene S, Cristian, Ingrid, Morrison, Jennifer, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, Mohammad, Zonic, Emir, Bauer, Peter, Cheema, Huma, Anjum, Muhammad Nadeem, Al-Sannaa, Nouriya, Abd Elmaksoud, Marwa, Ababneh, Faroug, Alijanpour, Sahar, Tonekaboni, Seyed Hassan, Fayazi, Afshin, Urbaniak, Maria, Barba, Uxia, Hoenicka J, Palau F, Houlden, Henry, Ortigoza-Escobar JD, Ribes, Antonia, Santos-Ocana, Carlos, Tyler, Millie, Gaffney, Patrick, Carroll, Christopher J, Tort, Frederic, Wierenga, Klaas J, Webb, Bryn D, Artuch-Iriberri R, Baide-Mairena, Heidy and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

    brain communications . 7(5): .

    [doi:10.1093/braincomms/fcaf348]

  • Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de cites: 1

    [doi:10.1002/jimd.12841]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451. Nº de cites: 2

    [doi:10.1093/clinchem/hvae139]

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(5): 1047-1068. Nº de cites: 2

    [doi:10.1002/jimd.12776]

  • Begley D, Gabathuler R, Pastores G, Garcia-Cazorla A, Ardigò D, Scarpa M, Tomanin R and Tosi G.

    Challenges and opportunities in neurometabolic disease treatment with enzyme delivery

    EXPERT OPINION ON DRUG DELIVERY . 21(6): 817-828.

    [doi:10.1080/17425247.2024.2375388]

  • Morales-Romero B, Muñoz-Pujol G, Artuch-Iriberri R, Garcia-Cazorla A, O'Callaghan-Gordo M, Sykut-Cegielska J, Campistol-Plana J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J and Tort F.

    Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

    MOLECULAR GENETICS AND METABOLISM . 142(3): 108511-108511. Nº de cites: 5

    [doi:10.1016/j.ymgme.2024.108511]

  • Tost A, Romero-Lafuente S, Alonso-Lopez JF, Bachiller A, Serna LY, Medina-Rivera IF, Garcia-Cazorla A and Mañanas MA.

    EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 150: 104751-104751. Nº de cites: 1

    [doi:10.1016/j.ridd.2024.104751]