Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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. Number of citations: 6

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

  • 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. Number of citations: 12

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

  • Tristan-Noguero A and Garcia-Cazorla A.

    Synaptic metabolism: a new approach to inborn errors of neurotransmissionKeywords

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1065-1075. Number of citations: 8

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

  • 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. Number of citations: 9

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

  • 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. Number of citations: 13

    [doi:10.1016/j.envint.2018.07.020]

  • 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. Number of citations: 48

    [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. Number of citations: 16

    [doi:10.1097/MCD.0000000000000237]

  • Candela-Cantó SA, Vanegas-Grisales MI, Darling A, Ortigoza-Escobar JD, Alamar M, Muchart-Lopez J, Climent A, Ferrer Vidal-Barraquer E, Rumià J and Pérez-Dueñas B.

    Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 22(4): 416-425. Number of citations: 20

    [doi:10.3171/2018.5.PEDS1814]

  • Armangue-Salvador T, Spatola M, Vlagea A, Mattozzi S, Cárceles-Cordon M, Martinez-Heras E, Llufriu S, Muchart-Lopez J, Erro ME, Abraira L, Moris G, Monros-Giménez L, Corral-Corral Í, Montejo C, Toledo M, Bataller L, Secondi G, Ariño H, Martínez-Hernández E, Juan M, Marcos MA, Alsina L, Saiz A, Rosenfeld MR, Graus F, Dalmau J and Spanish Herpes Simplex Encephalitis Study Group.

    Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    LANCET NEUROLOGY . 17(9): 760-772. Number of citations: 371

    [doi:10.1016/S1474-4422(18)30244-8]

  • Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol-Plana J, Garcia-Cazorla A, Pérez-Dueñas B, Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B and Orcesi S.

    Encephalopathies with intracranial calcification in children: clinical and genetic characterization

    ORPHANET JOURNAL OF RARE DISEASES . 13: 135-135. Number of citations: 15

    [doi:10.1186/s13023-018-0854-y]