Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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: 27

    [doi:10.1002/biot.201400751]

  • Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos F, Schlune A, Tsiakas K, Zerjav Tansek M and Baumgartner MR.

    Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(5): 957-967. Number of citations: 34

    [doi:10.1007/s10545-014-9803-7]

  • 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: 20

    [doi:10.1016/j.bbapap.2015.04.030]

  • Candela-Cantó SA, Puerta P, Alamar M, Barcik U, Guillén A, Muchart-Lopez J, García-Fructuoso G and Ferrer-Rodríguez E.

    Epidemiology and classification of arachnoid cysts in children

    Neurocirugia . 26(5): 234-240. Number of citations: 5

    [doi:10.1016/j.neucir.2015.02.007]

  • 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: 215

    [doi:10.1136/jmedgenet-2015-103087]

  • Taboas-Pereira MA, Paredes-Mercado C, Xenia Alonso, Badosa-Pages J, Muchart-Lopez J and Poo P.

    Drooling therapy in children with neurological disorders

    REVISTA DE NEUROLOGIA . 61(2): 66-70. Number of citations: 2

    [doi:10.33588/rn.6102.2015031]

  • 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: 14

    [doi:10.1016/j.mito.2015.03.001]

  • Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.

    Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

    Cell . 161(3): 459-469. Number of citations: 226

    [doi:10.1016/j.cell.2015.03.051]

  • 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]