Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Puerta P, Guillén A, Muchart-Lopez J, González V and Ferrer E.

    Cerebral Proliferative Angiopathy in a Child.

    PEDIATRIC NEUROSURGERY . 52(3): 214-216. Number of citations: 8

    [doi:10.1159/000459629]

  • Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, UK10K Consortium, Deciphering Developmental Disorders Study, NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Pérez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL and Kurian MA.

    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

    NATURE GENETICS . 49(2): 223-237. Number of citations: 161

    [doi:10.1038/ng.3740]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Number of citations: 146

    [doi:10.1186/s13023-016-0522-z]

  • Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S and Additional individual contributors.

    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 75-101. Number of citations: 138

    [doi:10.1007/s10545-016-9999-9]

  • Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR and Dionisi-Vici C.

    Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 21-48. Number of citations: 186

    [doi:10.1007/s10545-016-9991-4]

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Number of citations: 11

    [doi:10.1038/s41598-016-0008-1]

  • Opladen T, Cortés-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla A and International Working Group on Neurotransmitter related disorders (iNTD).

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

    Molecular genetics and metabolism reports . 9: 61-66. Number of citations: 41

    [doi:10.1016/j.ymgmr.2016.09.006]

  • Irune Fernandez Prieto, Caprile C, Tinoco-González D, Bet Ristol Orriols, López-Sala A, Poo P, Pons-Gimeno F and Navarra J.

    Pitch perception deficits in nonverbal learning disability

    RESEARCH IN DEVELOPMENTAL DISABILITIES . 59: 378-386. Number of citations: 3

    [doi:10.1016/j.ridd.2016.09.011]

  • Ortigoza-Escobar JD and Pérez-Dueñas B.

    Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 341-350. Number of citations: 4

    [doi:10.1016/j.spen.2016.11.008]

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.

    Neuromuscular Manifestations in Mitochondria! Diseases in Children

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Number of citations: 6

    [doi:10.1016/j.spen.2016.11.004]