Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez-Gonzalez CI, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M and Burgard P.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1041-1057. Number of citations: 185

    [doi:10.1007/s10545-015-9839-3]

  • Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez-Gonzalez CI, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM and Garcia-Cazorla A.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1059-1074. Number of citations: 174

    [doi:10.1007/s10545-015-9840-x]

  • 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: 47

    [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: 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: 33

    [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]