Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de citas: 13

    [doi:10.3390/jcm8010068]

  • Saudubray JM and Garcia-Cazorla A.

    An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders.

    Dialogues in Clinical Neuroscience . 20(4): 301-325. Nº de citas: 61

    [doi:10.31887/DCNS.2018.20.4/jmsaudubray]

  • Candela-Cantó SA, Aparicio J, Muchart-Lopez J, Baños-Carrasco P, Ramírez-Camacho A, Climent A, Alamar M, Jou-Munoz C, Rumià J, San Antonio-Arce MV, Arzimanoglou A and Ferrer Vidal-Barraquer E.

    Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues

    ACTA NEUROCHIRURGICA . 160(12): 2489-2500. Nº de citas: 27

    [doi:10.1007/s00701-018-3720-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de citas: 10

    [doi:10.1007/s10545-018-0224-x]

  • Cortés-Saladelafont E, Lipstein N and Garcia-Cazorla A.

    Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1131-1145. Nº de citas: 6

    [doi:10.1007/s10545-018-0230-z]

  • Bosch de Basea M, Moriña D, Figuerola J, Barber I, Muchart-Lopez J, Lee C and Cardis E.

    Subtle excess in lifetime cancer risk related to CT scanning in Spanish young people.

    ENVIRONMENT INTERNATIONAL . 120: 1-10. Nº de citas: 18

    [doi:10.1016/j.envint.2018.07.020]

  • Garcia-Cazorla A and Saudubray JM.

    Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1043-1054. Nº de citas: 15

    [doi:10.1007/s10545-018-0226-8]

  • Tristan-Noguero A and Garcia-Cazorla A.

    Synaptic metabolism: a new approach to inborn errors of neurotransmission.

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1065-1075. Nº de citas: 10

    [doi:10.1007/s10545-018-0235-7]

  • Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN and TSCure Research Group.

    Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 22(6): 1066-1073. Nº de citas: 55

    [doi:10.1016/j.ejpn.2018.06.007]

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de citas: 16

    [doi:10.1097/MCD.0000000000000237]