Departamento de Fisioloxía
Fachbereich
DAVID
ARAUJO VILAR
Profesor titular de universidade
Publikationen, an denen er mitarbeitet DAVID ARAUJO VILAR (8)
2016
2015
-
Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease
Neurobiology of Disease, Vol. 83, pp. 44-53
2013
-
A new seipin-associated neurodegenerative syndrome
Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409
2011
-
Estudio clínico y molecular de cinco familias con resistencia a la acción de las hormonas tiroideas
Medicina Clinica, Vol. 137, Núm. 12, pp. 551-554
2010
-
Functional consequences of seven novel mutations in the CYP11B1 gene: Four mutations associated with nonclassic and three mutations causing classic 11β-hydroxylase deficiency
Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 779-788
2008
-
Pendred syndrome in two Galician families: Insights into clinical phenotypes through cellular, genetic, and molecular studies
Journal of Clinical Endocrinology and Metabolism, Vol. 93, Núm. 1, pp. 267-277
2006
-
High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336
2003
-
Phenotypic gender differences in subjects with familial partial lipodystrophy (dunnigan variety) due to a nuclear lamin A/C R482W mutation
Hormone and Metabolic Research, Vol. 35, Núm. 1, pp. 29-35