Alberto Blázquez

Instituto de Salud Carlos III — Spain

Biochemistry, Genetics and Molecular Biology · Life Sciences

21h-index1.6kcitations67works2.92yr avg
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Research Topics

Mitochondrial Function and Pathology(39), Metabolism and Genetic Disorders(30), ATP Synthase and ATPases Research(16), Glycogen Storage Diseases and Myoclonus(14), Genetics and Neurodevelopmental Disorders(6)

Publications67 total

Is NT-proBNP an early predictor of bronchopulmonary dysplasia? A competing risk analysis
2025Open Access
346PExploring the natural history of late-onset TK2 deficiency: biomarkers and key outcomes
Neuromuscular Disorders·2025
Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies
Molecular Genetics and Metabolism·2025· 9 citedOpen Access
20624. CARACTERÍSTICAS CLÍNICAS, PATOLÓGICAS Y GENÉTICAS DE 27 PACIENTES CON TRASTORNOS CAUSADOS POR VARIANTES PATOGÉNICAS EN POLG
Neurology Perspectives·2024Open Access
20484. MIOPATÍAS MITOCONDRIALES PRIMARIAS: CARACTERÍSTICAS BASALES Y POTENCIALES BIOMARCADORES A PARTIR DE UN ESTUDIO DE HISTORIA NATURAL
Neurology Perspectives·2024Open Access
532P Clinical, pathological, and genetic characteristics of 27 Spanish patients with POLG-related disorders
Neuromuscular Disorders·2024
519P Insights into primary mitochondrial myopathies: baseline characteristics and potential biomarkers from a natural history study
Neuromuscular Disorders·2024
Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature
Neurological Sciences·2024· 1 cited
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
Mitochondrion·2024· 7 citedOpen Access
Clinical and Genetic Analysis of Patients With TK2 Deficiency
Neurology Genetics·2024· 12 citedOpen Access
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome
Journal of Clinical Medicine·2023· 7 citedOpen Access
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
International Journal of Molecular Sciences·2023· 10 citedOpen Access
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
Genes·2022· 8 citedOpen Access
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
Neuromuscular Disorders·2022· 8 citedOpen Access
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
Antioxidants·2022· 9 citedOpen Access
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
Journal of Clinical Medicine·2021· 10 citedOpen Access
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
European Journal of Human Genetics·2021· 20 citedOpen Access
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study
International Journal of Molecular Sciences·2021· 8 citedOpen Access
Plasma LDH: A specific biomarker for lung affectation in COVID-19?
Practical Laboratory Medicine·2021· 28 citedOpen Access
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency
Molecular Genetics and Metabolism Reports·2021· 9 citedOpen Access
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Frequent Co-authors

Miguel A. Martı́n(47), Joaquı́n Arenas(34), Cristina Domínguez‐González(14), María Morán(12), Pablo Serrano‐Lorenzo(12), Cristina Ugalde(11), Aitor Delmiro(9), Antoni L. Andreu(8), Adrián González-Quintana(8), Alejandro Lucía(8), Rafael Garesse(6), Carlos Rubio-Terrés(6), Inés García‐Consuegra(6), Aurelio Hernández‐Laín(6), Laura Bermejo‐Guerrero(6), Yolanda Campos(5), Ramón Martí(5), Elena García‐Arumí(5), Eduardo Ruiz‐Pesini(4), Ester López‐Gallardo(4)