People / Staff

MªAngels García Cazorla

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Publications

  • Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.

    cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    JIMD Reports . 8: 57-62. Number of citations: 6

    [doi:10.1007/8904_2012_161]

  • Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC and Crow YJ.

    Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature

    NATURE GENETICS . 44(11): 1243-1248. Number of citations: 687

    [doi:10.1038/ng.2414]

  • O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.

    New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

    Neurogenetics . 13(3): 245-250. Number of citations: 17

    [doi:10.1007/s10048-012-0322-0]

  • Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, Cortes EP, Engelstad K, De Vivo DC, Dimauro S, Bonilla E and Tanji K.

    Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 317(1-2): 29-34. Number of citations: 14

    [doi:10.1016/j.jns.2012.03.005]

  • Campistol-Plana J, Galvez H, Garcia-Cazorla A, Málaga I, Iriondo-Sanz M and Cusi V.

    Neurological dysfunction induced by bilirrubin

    NEUROLOGIA . 27(4): 202-211. Number of citations: 14

    [doi:10.1016/j.nrl.2010.03.013]

  • Jimenez E, Ormazabal-Herrero A, Serrano M, Ortez-Gonzalez CI, Artuch-Iriberri R, Garcia-Cazorla A and Campistol-Plana J.

    Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases

    REVISTA DE NEUROLOGIA . 54(7): 394-398. Number of citations: 4

    [doi:10.33588/rn.5407.2011454]

  • García-Jiménez MC, Baldellou A, García-Silva MT, Dalmau-Serra J, Garcia-Cazorla A, Gomez-Lopez L, Giner CP, Luengo OA, Peña Quintana L, Couce ML, Martínez-Pardo M and Lambruschini N.

    Epidemiological study of the metabolic diseases with homocystinuria in Spain

    ANALES DE PEDIATRIA . 76(3): 133-139. Number of citations: 4

    [doi:10.1016/j.anpedi.2011.08.008]

  • Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.

    TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

    BRAIN & DEVELOPMENT . 34(3): 255-257. Number of citations: 17

    [doi:10.1016/j.braindev.2011.04.007]

  • Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol-Plana J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A and Lill R.

    A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

    AMERICAN JOURNAL OF HUMAN GENETICS . 89(5): 656-667. Number of citations: 247

    [doi:10.1016/j.ajhg.2011.10.005]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Number of citations: 8

    [doi:10.1016/j.mito.2011.06.009]