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Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Paisiou A, Rogalidou M, Pons R, Ioannidou E, Dimakou K, Papadopoulou A, Vaz FM, Vessalas G, Goorden SMI, Roelofsen J, Zoetekouw A, Nieman MM, Dimitriou E, Moraitou M, Peristeri I, Michelakakis H, van Kuilenburg ABP. Paisiou A, et al. Among authors: pons r. Mol Genet Metab Rep. 2021 Dec 3;30:100829. doi: 10.1016/j.ymgmr.2021.100829. eCollection 2022 Mar. Mol Genet Metab Rep. 2021. PMID: 34926160 Free PMC article.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.
Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A. Ortez C, et al. Among authors: pons r. Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31. Mol Genet Metab. 2015. PMID: 25468651 Free article.
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Opladen T, Cortès-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 À; International Working Group on Neurotransmitter related disorders (iNTD). Opladen T, et al. Among authors: pons r. Mol Genet Metab Rep. 2016 Oct 20;9:61-66. doi: 10.1016/j.ymgmr.2016.09.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27830117 Free PMC article.
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.
Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, Cormand B. Carreño O, et al. Among authors: pons r. Mol Genet Genomic Med. 2013 Nov;1(4):206-22. doi: 10.1002/mgg3.24. Epub 2013 Jul 2. Mol Genet Genomic Med. 2013. PMID: 24498617 Free PMC article.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M, Molero-Luis M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol J, Ormazabal A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E, Artuch R. Batllori M, et al. Among authors: pons r. Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8. Sci Rep. 2017. PMID: 29116116 Free PMC article.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A, Borràs E, Molero-Luis M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch R, Sabidó E, García-Cazorla À. Tristán-Noguero A, et al. Among authors: pons r. Mov Disord. 2021 Mar;36(3):690-703. doi: 10.1002/mds.28362. Epub 2020 Nov 5. Mov Disord. 2021. PMID: 33152132
290 results