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Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG. Hortigüela M, et al. Among authors: fons c. J Hum Genet. 2017 Feb;62(2):185-189. doi: 10.1038/jhg.2016.104. Epub 2016 Aug 18. J Hum Genet. 2017. PMID: 27535030
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R. Ulate-Campos A, et al. Among authors: fons c. Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Med Clin (Barc). 2014. PMID: 24768197 Spanish.
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R. Arias A, et al. Among authors: fons c. Clin Biochem. 2007 Nov;40(16-17):1328-31. doi: 10.1016/j.clinbiochem.2007.07.010. Epub 2007 Aug 10. Clin Biochem. 2007. PMID: 17825809
Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA. Serrano M, et al. Among authors: fons c. J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14. J Child Neurol. 2010. PMID: 19684305
71 results