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Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Pérez-Poyato MS, Marfa MP, Abizanda IF, Rodriguez-Revenga L, Sánchez VC, González MJ, Puñal JE, Pérez AV, González MM, Bermejo AM, Hernández EM, Rosell MJ, Gort L, Milá M. Pérez-Poyato MS, et al. Among authors: abizanda if. J Child Neurol. 2013 Apr;28(4):470-8. doi: 10.1177/0883073812448459. Epub 2012 Jul 25. J Child Neurol. 2013. PMID: 22832778
Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus.
Hamilton G, Killick R; Genetic and Environmental Risk for Alzheimer's Disease Consortium; Translational Genomics Research Institute Consortium; Lambert JC, Amouyel P; European Alzheimer Disease Initiative; Carrasquillo MM, Pankratz VS, Graff-Radford NR, Dickson DW, Petersen RC, Younkin SG, Powell JF, Wade-Martins R. Hamilton G, et al. Neurobiol Aging. 2012 Aug;33(8):1848.e1-13. doi: 10.1016/j.neurobiolaging.2012.02.005. Epub 2012 Mar 8. Neurobiol Aging. 2012. PMID: 22405046 Free PMC article.