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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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.

    [doi:10.1093/clinchem/hvae139]

  • Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD.

    Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19. Nº de cites: 3

    [doi:10.1016/j.ejpn.2024.06.011]

  • 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: 1

    [doi:10.1002/jimd.12776]

  • Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.

    Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    ANTIOXIDANTS . 13(8): . Nº de cites: 1

    [doi:10.3390/antiox13080966]

  • 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]

  • 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 . 271(7): 3743-3753. Nº de cites: 5

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

  • 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. Nº de cites: 2

    [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 cites: 3

    [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]