Rosa J. Torres-Jimenez

Madrid, MD 28006, Spain

Last Updated: 09/26/2026

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Found 51 publications

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

Journal: Cells

Published: June 03, 2025

Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.

Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.

Journal: Nature genetics

Published: November 05, 2024

A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.

A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.

Journal: Molecular medicine (Cambridge, Mass.)

Published: November 07, 2023

A genome-wide association analysis reveals new pathogenic pathways in gout.

A genome-wide association analysis reveals new pathogenic pathways in gout.

Journal: Nature genetics

Published: January 17, 2023

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Journal: Brain : a journal of neurology

Published: August 29, 2022

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.

Journal: Annals of human genetics

Published: August 27, 2021

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.

Safety and Efficacy of Botulinum Toxin in the Treatment of Self-Biting Behavior in Lesch-Nyhan Disease.

Journal: Pediatric neurology

Published: August 23, 2021

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele.

Journal: European journal of medical genetics

Published: December 23, 2020

Toll-Like receptor 4 (TLR4) polymorphism rs2149356 and risk of gout in a Spanish cohort.

Toll-Like receptor 4 (TLR4) polymorphism rs2149356 and risk of gout in a Spanish cohort.

Journal: Nucleosides, nucleotides & nucleic acids

Published: June 20, 2020

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.

Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: May 21, 2020

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Journal: Kidney international reports

Published: March 31, 2020

Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus.

Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus.

Journal: Rheumatology (Oxford, England)

Published: August 18, 2019

Showing 1-12 of 51

Last Updated: 09/26/2026