Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • 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 . : .

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

  • 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 . : . Nº de citas: 1

    [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]

  • Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.

    Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances

    WORLD NEUROSURGERY . 187: 124-132.

    [doi:10.1016/j.wnEu.2024.04.064]

  • 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 citas: 1

    [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.

    [doi:10.1016/j.ridd.2024.104751]

  • Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L and Vanderver A.

    Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.

    Cytotherapy . 26(7): 739-748. Nº de citas: 4

    [doi:10.1016/j.jcyt.2024.03.487]

  • Perez, M., Roldan-Merino J, Russi ME, Garau-Rolandi M, Colomé-Roura R, Sampaio, Francisco, Domínguez M, Farrés M, Hurtado B and Alda JA.

    The Development and Content Validation of a Clinical Screening Scale to Identify Attention-Deficit Hyperactivity Disorder Cases Based on the Gender Perspective: An e-Delphi Study.

    Healthcare . 12(13): 1282.

    [doi:10.3390/healthcare12131282]

  • Hikmat, O, Naess, K, Engvall, M, Klingenberg, C, Rasmussen, M, Brodtkorb, E, Ostergaard, E, de Coo, I, Pias-Peleteiro LD, Isohanni, P, Uusimaa, J, Majamaa, K, Kaerppae, M, Ortigoza-Escobar JD, Tangeraas, T, Berland, S, Harrison, E, Biggs, H, Horvath, R, Darin, N, Rahman, S and Bindoff, LA.

    Status epilepticus in POLG disease: a large multinational study

    JOURNAL OF NEUROLOGY . : . Nº de citas: 4

    [doi:10.1007/s00415-024-12463-5]

  • Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.

    L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study

    BRAIN . 147(5): 1653-1666. Nº de citas: 5

    [doi:10.1093/brain/awae041]