Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • 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]

  • 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]

  • Perez Beltran, Meritxell, 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 . : .

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

  • Julià-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortés-Saladelafont E, Rovira-Remisa MM, Yildiz Y, Mercimek-Andrews S, Assmann B, Stevanovic G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, Garcia-Cazorla A and Opladen T.

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 447-462. Nº de citas: 2

    [doi:10.1002/jimd.12723]

  • Jung-Kc K, Tristan-Noguero A, Altankhuyag A, Piñol Belenguer D, Prestegård KS, Fernandez-Carasa I, Colini Baldeshi A, Sigatulina Bondarenko M, Garcia-Cazorla A, Consiglio A and Martinez A.

    Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-inmouse model

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 494-508. Nº de citas: 2

    [doi:10.1002/jimd.12702]

  • Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julià-Palacios NA, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB and Pearl PL.

    Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

    MOLECULAR GENETICS AND METABOLISM . 142(1): 108363-108363.

    [doi:10.1016/j.ymgme.2024.108363]

  • Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Nº de citas: 1

    [doi:10.1002/jimd.12689]

  • Roubertie, A, Opladen, T, Brennenstuhl, H, Hubschmann, OK, Flint, L, Willemsen, MA, Leuzzi, V, Garcia-Cazorla A, Kurian, MA, Francois-Heude, MC, Hwu, P, Ben Zeev, B, Kiening, K, Roujeau, T, Pons, R and Pearson, TS.

    Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 463-475. Nº de citas: 7

    [doi:10.1002/jimd.12649]

  • Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Sahin M and Pearl PL.

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    JOURNAL OF NEURODEVELOPMENTAL DISORDERS . 16(1): 21-21. Nº de citas: 1

    [doi:10.1186/s11689-024-09538-9]