Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • Pérez-Dueñas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol-Plana J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch-Iriberri R and Vilaseca MA.

    Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(5): 444-451. Nº de citas: 46

    [doi:10.1016/j.ejpn.2008.09.002]

  • Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Garcia-Cazorla A, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT and Crow YJ.

    Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

    NATURE GENETICS . 41(7): 829-89. Nº de citas: 650

    [doi:10.1038/ng.373]

  • Cerisola A, Campistol-Plana J, Pérez-Dueñas B, Poo P, Pineda M, Garcia-Cazorla A, Sanmarti FX, Ribes A and Vilaseca MA.

    Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I

    PEDIATRIC NEUROLOGY . 40(6): 426-431. Nº de citas: 8

    [doi:10.1016/j.pediatrneurol.2008.12.009]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, Garcia-Cazorla A, Montoya J, Navas P and Artuch-Iriberri R.

    Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    CLINICAL BIOCHEMISTRY . 42(7-8): 742-745. Nº de citas: 23

    [doi:10.1016/j.clinbiochem.2008.10.027]

  • Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.

    Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

    AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Nº de citas: 32

    [doi:10.1053/j.ajkd.2008.09.011]

  • 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: 121

    [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: 95

    [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: 17

    [doi:10.1002/mds.21786]