Bioquímica y Biología Molecular y Fisiología
Departamento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (15)
2024
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SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2023
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Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions
PLoS ONE, Vol. 18, Núm. 9 September
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The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages
iScience, Vol. 26, Núm. 8
2022
2018
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Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome
British Journal of Dermatology, Vol. 178, Núm. 1, pp. 198-206
2017
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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Journal of Pediatrics, Vol. 183, pp. 170-177.e1
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DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress
PLoS ONE, Vol. 12, Núm. 6
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The role of endoglin in post-ischemic revascularization
Angiogenesis, Vol. 20, Núm. 1
2016
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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043
2015
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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48
2013
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Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry
Neurobiology of Disease, Vol. 55, pp. 140-151
2011
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics, Vol. 12, Núm. 3, pp. 183-191
2010
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Are elite endurance athletes genetically predisposed to lower disease risk?
Physiological Genomics, Vol. 41, Núm. 1, pp. 82-90
2008
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Assessment of optimal virus-mediated growth factor gene delivery for human cutaneous wound healing enhancement
Journal of Investigative Dermatology, Vol. 128, Núm. 6, pp. 1565-1575
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Room temperature storage of cultured human articular chondrocytes
Cell Preservation Technology, Vol. 6, Núm. 3, pp. 199-206