Pedro Alfonso
LAZO-ZBIKOWSKI Taracena
Universidad Francisco de Vitoria
Pozuelo de Alarcón, EspañaPublicaciones en colaboración con investigadores/as de Universidad Francisco de Vitoria (4)
2021
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Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia
Neurology: Genetics, Vol. 7, Núm. 5
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Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome
Human Genomics, Vol. 15, Núm. 1
2020
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Novel dominant kcnq2 exon 7 partial in-frame duplication in a complex epileptic and neurodevelopmental delay syndrome
International Journal of Molecular Sciences, Vol. 21, Núm. 12, pp. 1-11
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
Annals of Clinical and Translational Neurology, Vol. 7, Núm. 5, pp. 808-818