Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Pérez-Dueñas B, Paciorkowski AR and Kurian MA.

    Delineation of the movement disorders associated with FOXG1 mutations

    Neurology . 86(19): 1794-1800. Number of citations: 54

    [doi:10.1212/WNL.0000000000002585]

  • Heringer, J., Valayannopoulos, V., Lund, A.M., Wijburg, F.A., Freisinger, P., Baric, I., Baumgartner, M.R., Burgard, P., Burlina, A.B., Chapman, K.A., Cortés-Saladelafont E, Karall, D., Mühlhausen, C., Riches, V., Schiff, M., Sykut-Cegielska, J., Walter, J.H., Zeman, J., Chabrol, B. and Kölker, S..

    Impact of age at onset and newborn screening on outcome in organic acidurias

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(3): 341-353. Number of citations: 55

    [doi:10.1007/s10545-015-9907-8]

  • Ortigoza-Escobar JD, De Oyarzabal-Sanz AL, Montero-Sanchez R, Artuch-Iriberri R, Jou-Munoz C, Jimenez-Mallebrera C, Gort L, Briones P, Muchart-Lopez J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P and Pérez-Dueñas B.

    Ndufs4 related Leigh syndrome: A case report and review of the literature

    Mitochondrion . 28: 73-78. Number of citations: 40

    [doi:10.1016/j.mito.2016.04.001]

  • Llorca-Cardeñosa A, Català-Mora J, Garcia-Cazorla A, Meavilla-Olivas SM and Castejón-Ponce E.

    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

    Archivos De La Sociedad Española De Oftalmología . 91(5): 236-239.

    [doi:10.1016/j.oftal.2016.01.006]

  • De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Number of citations: 24

    [doi:10.1016/j.bbadis.2016.01.016]

  • François C, Ripollés P, Bosch-Galceran L, García-Alix A, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Gaitán H and Rodriguez-Fornells A.

    Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity

    Cortex . 77: 95-118. Number of citations: 21

    [doi:10.1016/j.cortex.2016.01.010]

  • Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J and Chakrapani A.

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    ORPHANET JOURNAL OF RARE DISEASES . 11: 32-32. Number of citations: 30

    [doi:10.1186/s13023-016-0406-2]

  • Jamiolkowski D, Kölker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P and E-IMD consortium.

    Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 231-241. Number of citations: 30

    [doi:10.1007/s10545-015-9887-8]

  • Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.

    Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

    EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Number of citations: 14

    [doi:10.1038/ejhg.2015.112]

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Number of citations: 119

    [doi:10.1371/journal.pone.0148709]