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A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.
Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernàndez-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM. Serra SA, et al. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1672-7. doi: 10.1073/pnas.0908359107. Epub 2010 Jan 8. Proc Natl Acad Sci U S A. 2010. PMID: 20080591 Free PMC article.
Exploring DRD4 and its interaction with SLC6A3 as possible risk factors for adult ADHD: a meta-analysis in four European populations.
Sánchez-Mora C, Ribasés M, Casas M, Bayés M, Bosch R, Fernàndez-Castillo N, Brunso L, Jacobsen KK, Landaas ET, Lundervold AJ, Gross-Lesch S, Kreiker S, Jacob CP, Lesch KP, Buitelaar JK, Hoogman M, Kiemeney LA, Kooij JJ, Mick E, Asherson P, Faraone SV, Franke B, Reif A, Johansson S, Haavik J, Ramos-Quiroga JA, Cormand B. Sánchez-Mora C, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Jul;156B(5):600-12. doi: 10.1002/ajmg.b.31202. Epub 2011 May 18. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21595008
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. 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.
Transcriptomic and genetic studies identify NFAT5 as a candidate gene for cocaine dependence.
Fernàndez-Castillo N, Cabana-Domínguez J, Soriano J, Sànchez-Mora C, Roncero C, Grau-López L, Ros-Cucurull E, Daigre C, van Donkelaar MM, Franke B, Casas M, Ribasés M, Cormand B. Fernàndez-Castillo N, et al. Transl Psychiatry. 2015 Oct 27;5(10):e667. doi: 10.1038/tp.2015.158. Transl Psychiatry. 2015. PMID: 26506053 Free PMC article.
66 results