Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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]

  • Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal-Herrero A, Garcia-Cazorla A, Serrano M and Artuch-Iriberri R.

    Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

    MOVEMENT DISORDERS . 28(8): 1058-1063. Nº de cites: 60

    [doi:10.1002/mds.25382]

  • Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Nº de cites: 37

    [doi:10.1111/dmcn.12116]

  • Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell-Sampol L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, Garcia-Cazorla A, Edery P, Jackson IJ, Maher ER and Aligianis IA.

    Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and GenotypePhenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

    HUMAN MUTATION . 34(5): 686-696. Nº de cites: 104

    [doi:10.1002/humu.22296]

  • Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.

    Hypotonia in the neonatal period: 12 years' experience

    REVISTA DE NEUROLOGIA . 56(2): 72-78. Nº de cites: 5

    [doi:10.33588/rn.5602.2012339]

  • Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

    JIMD Reports . 7: 123-128. Nº de cites: 11

    [doi:10.1007/8904_2012_166]