CLINICAL PEDIATRICS AND RARE DISEASES
Ikerbasque, Fundación Vasca para la Ciencia
Bilbao, EspañaPublications in collaboration with researchers from Ikerbasque, Fundación Vasca para la Ciencia (9)
2020
2019
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Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2017
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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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