Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Koenig MK, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T and De Vivo D.

    A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome

    Epilepsia . 63(7): 1748-1760. Nº de citas: 12

    [doi:10.1111/epi.17263]

  • Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla-Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V and Kölker S.

    Postauthorization safety study of betaine anhydrous

    JOURNAL OF INHERITED METABOLIC DISEASE . 45(4): 719-733. Nº de citas: 4

    [doi:10.1002/jimd.12499]

  • Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.

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

    CLINICAL GENETICS . 102(1): 40-55. Nº de citas: 4

    [doi:10.1111/cge.14138]

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Saudubray JM, Martinelly D and Dionisi-Vici C.

    Genetic disorders of cellular trafficking

    TRENDS IN GENETICS . 38(7): 724-751. Nº de citas: 29

    [doi:10.1016/j.tig.2022.02.012]

  • Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.

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

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de citas: 5

    [doi:10.1111/dmcn.15140]

  • Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, Garcia-Cazorla A, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P and Helbig I.

    Assessing the landscape of STXBP1-related disorders in 534 individuals

    BRAIN . 145(5): 1668-1683. Nº de citas: 48

    [doi:10.1093/brain/awab327]

  • Candela-Cantó SA, Muchart-Lopez J, Ramírez-Camacho A, Becerra V, Alamar AM, Pascual A, Forero C, Rebollo M, Munuera-del Cerro JL, Aparicio J, Rumià J and Hinojosa J.

    Robot-assisted, real-time, MRI-guided laser interstitial thermal therapy for pediatric patients with hypothalamic hamartoma: surgical technique, pitfalls, and initial results

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 29(6): 681-692. Nº de citas: 12

    [doi:10.3171/2022.2.PEDS21516]

  • Olivé G, Slušná D, Vaquero L, Muchart-Lopez J, Rodríguez-Fornells A and Hinzen W.

    Structural connectivity in ventral language pathways characterizes non-verbal autism

    BRAIN STRUCTURE & FUNCTION . 227(5): 1817-1829. Nº de citas: 4

    [doi:10.1007/s00429-022-02474-1]

  • Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S.

    Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542. Nº de citas: 6

    [doi:10.1016/j.jmoldx.2022.02.003]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de citas: 8

    [doi:10.1111/cge.14113]