Adrián González-Quintana

6PUBLICATIONS
32CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Predictive and prognostic markersEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsMedical molecular engineering of nucleic acids and proteins
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Publications (6)

|Mar 13, 2026
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

Laura Bermejo-Guerrero, Juan Luis Restrepo-Vera, Paloma Martin-Jimenez

|Jan 22, 2026
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Paloma Martín-Jimenez, Laura Bermejo-Guerrero, Luz Edith Ochoa

|Jul 29, 2023
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez

|Jan 21, 2023
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Guillermo Amate-García, María Juliana Ballesta-Martínez, Pablo Serrano-Lorenzo

|Jul 30, 2020
Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report.

Adrián González-Quintana, Inés García-Consuegra, Amaya Belanger-Quintana

|Feb 26, 2016
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Ines Garcia-Consuegra, Alberto Blázquez, Juan Carlos Rubio

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Frequent Collaborators

5 joint publications

Miguel A Martín

4 joint publications

Alberto Blázquez

3 joint publications

Rocío Garrido-Moraga

2 joint publications

Paloma Martín-Jimenez