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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

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

    Electroencephalographic assessment in patients with Rett syndrome during cognitive stimulation by means of eye tracking technology and alternative and augmentative communication systems.

    2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2023: 1-4.

    [doi:10.1109/EMBC40787.2023.10340249]

  • Candela-Cantó SA, Muchart-Lopez J, Carlos Valera Dávila, Jou-Munoz C, Culebras D, Alamar AM, Becerra V, Artés D, Armero-Campos G, Aparicio J, Hinojosa J and Rumià J.

    Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 31(1): 61-70. Nº de cites: 1

    [doi:10.3171/2022.9.PEDS22258]

  • Petazzi P, Jorge-Torres OC, Gomez A, Scognamiglio I, Serra-Musach J, Merkel A, Grases D, Xiol-Viñas C, O'Callaghan-Gordo M, Armstrong-Moron J, Esteller M and Guil S.

    Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Nº de cites: 2

    [doi:10.3390/ijms24021453]

  • Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.

    Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Nº de cites: 3

    [doi:10.1002/jimd.12554]

  • Pandolfo M, Reetz K, Darling A, Rodriguez de Rivera FJ, Henry PG, Joers J, Lenglet C, Adanyeguh I, Deelchand D, Mochel F, Pousset F, Pascual S, Van den Eede D, Martin-Ugarte I, Vilà-Brau A, Mantilla A, Pascual M, Martinell M, Meya U and Durr A.

    Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).

    NEUROLOGY-GENETICS . 8(6): 1-14. Nº de cites: 1

    [doi:10.1212/NXG.0000000000200034]

  • Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pias-Peleteiro LD, O'Callaghan-Gordo M, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S and Espinós C.

    Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(19): 11847. Nº de cites: 1

    [doi:10.3390/ijms231911847]

  • Hinojosa J, Simó-Nebot M, Armero-Campos G, Becerra MV, Alamar AM, Candela-Cantó SA, Culebras D, Muchart-Lopez J and Berrueco R.

    Hemophilia and non-accidental head trauma in two siblings: lessons and legal implications

    CHILDS NERVOUS SYSTEM . 38(12): 2415-2423.

    [doi:10.1007/s00381-022-05713-2]

  • Kožich V, Schwahn BC, Sokolová J, Krížková M, Ditroi T, Krijt J, Khalil Y, Krížek T, Vaculíková-Fantlová T, Stiburková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, Garcia-Cazorla A, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G and Nagy P.

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    REDOX BIOLOGY . 58: 102517-102517. Nº de cites: 6

    [doi:10.1016/j.redox.2022.102517]

  • Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pias-Peleteiro LD, Català-Mora J, Bolasell M, Torella A, Nigro V, Zanni G and Brunetti-Pierri N.

    Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(10): 3032-3040. Nº de cites: 1

    [doi:10.1002/ajmg.a.62911]

  • Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla-Olivas SM, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de los Santos MM, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M and Bellusci M.

    Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

    Journal of Clinical Medicine . 11(17): 5045.

    [doi:10.3390/jcm11175045]