Adrian Quintana-Gonzalez
Madrid, MD 28029, Spain
Last Updated: 09/26/2026
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Found 8 publications
Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.
Journal: Neurology. Genetics
Published: July 11, 2025
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Journal: Journal of inherited metabolic disease
Published: June 11, 2025
Missense mutations have unexpected consequences: The McArdle disease paradigm.
Journal: Human mutation
Published: May 03, 2018
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.
Journal: Free radical biology & medicine
Published: April 26, 2018
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Journal: BMC genomics
Published: November 17, 2017
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Journal: Mitochondrion
Published: March 10, 2016
Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 16, 2015
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Last Updated: 09/26/2026