Alberto S. Blazquez

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 30 publications

Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.

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.

Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.

Journal: Journal of inherited metabolic disease

Published: June 11, 2025

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.

Journal: Molecular genetics and metabolism

Published: August 23, 2024

Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.

Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.

Journal: Mitochondrion

Published: January 10, 2024

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Clinical and Genetic Analysis of Patients With TK2 Deficiency.

Journal: Neurology. Genetics

Published: December 04, 2023

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.

Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.

Journal: Journal of clinical medicine

Published: February 15, 2023

Flexural Tests for Efficiency Evaluation of Spike Anchors on CFRP-Strengthened Concrete.

Flexural Tests for Efficiency Evaluation of Spike Anchors on CFRP-Strengthened Concrete.

Journal: Materials (Basel, Switzerland)

Published: December 01, 2022

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

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

Journal: International journal of molecular sciences

Published: November 09, 2022

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Journal: Genes

Published: September 16, 2022

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.

Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.

Journal: Antioxidants (Basel, Switzerland)

Published: February 02, 2022

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.

Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.

Journal: Neuromuscular disorders : NMD

Published: January 20, 2022

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.

Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.

Journal: International journal of molecular sciences

Published: April 06, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026