Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.

    Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    HUMAN MUTATION . 35(4): 470-477. Nº de cites: 59

    [doi:10.1002/humu.22513]

  • Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

    Electrophoresis . 35(8): 1181-1187. Nº de cites: 11

    [doi:10.1002/elps.201300261]

  • Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch-Iriberri R, Garcia-Cazorla A, Briones P and Ribes A.

    Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    HUMAN MOLECULAR GENETICS . 23(7): 1907-1915. Nº de cites: 55

    [doi:10.1093/hmg/ddt585]

  • Molero M, Fernández-Ureña S, Jordán-García I, Serrano M, Ormazabal-Herrero A, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

    PLoS One . 8(12): . Nº de cites: 21

    [doi:10.1371/journal.pone.0083237]

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Nº de cites: 12

    [doi:10.1016/j.gene.2013.08.036]

  • Alonso A, Merchán P, Sandoval JE, Sánchez-Arrones L, Artuch-Iriberri R, Ferrán JL, Martínez-de-la-Torre M and Puelles L.

    Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

    BRAIN STRUCTURE & FUNCTION . 218(5): 1229-1277. Nº de cites: 96

    [doi:10.1007/s00429-012-0456-8]

  • Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, Del Toro M, Garcia-Cazorla A, Campistol-Plana J, Briones P, Ribes A and Tort F.

    Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 36(5): 841-847. Nº de cites: 35

    [doi:10.1007/s10545-012-9565-z]

  • Matos IV, Castejón E, Meavilla S, O'Callaghan-Gordo M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch-Iriberri R and Garcia-Cazorla A.

    Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

    MOLECULAR GENETICS AND METABOLISM . 109(4): 360-365. Nº de cites: 29

    [doi:10.1016/j.ymgme.2013.05.007]

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Nº de cites: 60

    [doi:10.1371/journal.pone.0068851]

  • Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.

    Coenzyme Q(10) deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion . 13(4): 337-341. Nº de cites: 46

    [doi:10.1016/j.mito.2013.04.001]