People / Staff

MªAngels García Cazorla

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Publications

  • Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Number of citations: 42

    [doi:10.1186/s13023-015-0358-y]

  • Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong-Moron J, Sebastião AM, Gribnau J, Garcia-Cazorla A, Brüstle O, Henrique D, Cabral JM and Diogo MM.

    Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells

    BIOTECHNOLOGY JOURNAL . 10(10): 1578-1588. Number of citations: 25

    [doi:10.1002/biot.201400751]

  • Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, Garcia-Cazorla A, Andersson KK, Teigen K and Martinez A.

    Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms

    BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS . 1854(9): 1078-1089. Number of citations: 19

    [doi:10.1016/j.bbapap.2015.04.030]

  • Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Number of citations: 203

    [doi:10.1136/jmedgenet-2015-103087]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Number of citations: 20

    [doi:10.1586/14737175.2015.1055322]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Number of citations: 13

    [doi:10.1016/j.mito.2015.03.001]

  • Garcia-Cazorla A, Cortés-Saladelafont E and Duarte S.

    Neuronal communication and synaptic metabolism in childhood epilepsy

    REVISTA DE NEUROLOGIA . 60(5): 219-228. Number of citations: 1

    [doi:10.33588/rn.6005.2014323]

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Number of citations: 3

    [doi:10.1055/s-0035-1554782]

  • Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

    MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Number of citations: 13

    [doi:10.1016/j.ymgme.2014.10.014]

  • Garcia-Cazorla A, Mochel F, Lamari F and Saudubray JM.

    The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(1): 19-40. Number of citations: 36

    [doi:10.1007/s10545-014-9776-6]