Recerca

Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 464

    [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. Nº de cites: 19

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

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 8

    [doi:10.1111/dmcn.13746]

  • de Salazar, MG, Grau-Páez C, Ciruela, F and Altafaj, X.

    Phosphoproteomic Alterations of Ionotropic Glutamate Receptors in the Hippocampus of the Ts65Dn Mouse Model of Down Syndrome

    FRONTIERS IN MOLECULAR NEUROSCIENCE . 11: . Nº de cites: 4

    [doi:10.3389/fnmol.2018.00226]

  • Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.

    Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias

    ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Nº de cites: 15

    [doi:10.1186/s13023-018-0840-4]

  • Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan-Gordo M and Del Toro M.

    Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

    Molecular genetics and metabolism reports . 15: 116-120. Nº de cites: 11

    [doi:10.1016/j.ymgmr.2018.03.009]

  • Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.

    X-linked adrenoleukodystrophy with an atypical radiological pattern

    REVISTA DE NEUROLOGIA . 66(7): 237-240. Nº de cites: 4

    [doi:10.33588/rn.6607.2017498]

  • Saudubray JM and Garcia-Cazorla A.

    Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management

    PEDIATRIC CLINICS OF NORTH AMERICA . 65(2): 179-208. Nº de cites: 137

    [doi:10.1016/j.pcl.2017.11.002]

  • Tello C, Darling A, Lupo V, Pérez-Dueñas B and Espinós C.

    On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.

    CLINICAL GENETICS . 93(4): 731-740. Nº de cites: 24

    [doi:10.1111/cge.13057]

  • López M, García-Oguiza A, Armstrong-Moron J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V and Domínguez-Garrido E.

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

    BMC MEDICAL GENETICS . 19(1): 36-36. Nº de cites: 30

    [doi:10.1186/s12881-018-0548-2]