People / Staff

MªAngels García Cazorla

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Publications

  • López LC, Akman HO, Garcia-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K and Hirano M.

    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

    HUMAN MOLECULAR GENETICS . 18(4): 714-722. Number of citations: 118

    [doi:10.1093/hmg/ddn401]

  • Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER and Gissen P.

    Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

    HUMAN MUTATION . 30(2): 330-337. Number of citations: 30

    [doi:10.1002/humu.20900]

  • Marín-Valencia I, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

    CLINICAL BIOCHEMISTRY . 41(16-17): 1306-1315. Number of citations: 38

    [doi:10.1016/j.clinbiochem.2008.08.077]

  • Akman HO, Dorado B, López LC, Garcia-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K and Hirano M.

    Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

    HUMAN MOLECULAR GENETICS . 17(16): 2433-2440. Number of citations: 92

    [doi:10.1093/hmg/ddn143]

  • Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J, Torres RJ and Garcia-Cazorla A.

    Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks

    MOVEMENT DISORDERS . 23(9): 1297-1300. Number of citations: 15

    [doi:10.1002/mds.21786]

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Number of citations: 46

    [doi:10.1016/j.ymgme.2008.01.004]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, Garcia-Cazorla A, Navas P and Artuch-Iriberri R.

    Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    CLINICAL BIOCHEMISTRY . 41(9): 697-700. Number of citations: 58

    [doi:10.1016/j.clinbiochem.2008.03.007]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Number of citations: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Launes-Montana C, Noguera-Julián A, Garcia-Cazorla A and Fortuny-Guasch C.

    Hemicerebel-litis

    Pediatría Catalana . 6: 160-163.

  • Duarte S, Sanmarti F, Gonzalez V, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

    BRAIN & DEVELOPMENT . 30(2): 106-111. Number of citations: 18

    [doi:10.1016/j.braindev.2007.06.009]