PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Instituto de Investigación Sanitaria Biogipuzkoa
San Sebastián, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Biogipuzkoa (10)
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
2014
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Geographical analysis of the sporadic Creutzfeldt-Jakob disease distribution in the autonomous community of the Basque country for the period 1995-2008
European Neurology, Vol. 72, Núm. 1-2, pp. 20-25
2013
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Fine Mapping and Functional Analysis of the Multiple Sclerosis Risk Gene CD6
PLoS ONE, Vol. 8, Núm. 4
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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33
2012
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Replication study of 10 genes showing evidence for association with multiple sclerosis: Validation of TMEM39A, IL12B and CLBL genes
Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 959-965
2011
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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
Genes and Immunity, Vol. 12, Núm. 2, pp. 110-115
2010
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A Novel PRNP Y218N mutation in gerstmann-sträussler-scheinker disease with neurofibrillary degeneration
Journal of Neuropathology and Experimental Neurology, Vol. 69, Núm. 8, pp. 789-800
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Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 7, pp. 1283-1291
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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genes and Immunity, Vol. 11, Núm. 5, pp. 439-445