Neurobiología del sistema visual y terapia de enfermedades neurodegenerativas (NEUROVIS)
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (8)
2023
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A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects
Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 32
2020
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Intranasal delivery of Thyroid hormones in MCT8 deficiency
PloS one, Vol. 15, Núm. 7, pp. e0236113
2019
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Adult Mice Lacking Mct8 and Dio2 Proteins Present Alterations in Peripheral Thyroid Hormone Levels and Severe Brain and Motor Skill Impairments
Thyroid, Vol. 29, Núm. 11, pp. 1669-1682
2018
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Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy
Scientific Reports, Vol. 8, Núm. 1
2016
2015
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Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations
Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048
2010
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Role of late maternal thyroid hormones in cerebral cortex development: An experimental model for human prematurity
Cerebral Cortex, Vol. 20, Núm. 6, pp. 1462-1475
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Thyroid hormone regulation of gene expression in the developing rat fetal cerebral cortex: Prominent role of the Ca2+/calmodulin-dependent protein kinase IV pathway
Endocrinology, Vol. 151, Núm. 2, pp. 810-820