People / Staff

MªAngels García Cazorla

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Publications

  • 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]

  • Couce ML, Pérez-Cerdá C, García Silva MT, Garcia-Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol-Plana J, Fraga JM, Pérez B and Ugarte M.

    Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

    MEDICINA CLINICA . 137(11): 500-503. Number of citations: 8

    [doi:10.1016/j.medcli.2011.01.018]

  • Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.

    Hypokinetic-rigid syndrome in children and inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Number of citations: 10

    [doi:10.1016/j.ejpn.2011.04.013]