Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 18

    [doi:10.1016/j.braindev.2007.06.009]