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Aitor Delmiro

26

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282

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Plasma LDH: A specific biomarker for lung affectation in COVID-19?

2021 Practical Laboratory Medicine
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P.62Muscle multiple mitochondrial DNA deletions: a genetic biomarker to detect nuclear-gene mutations in mtDNA maintenance disorders?

2019 Neuromuscular Disorders
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Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield

2018 BioMed Research International
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Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders

2018 Medicine and Science in Sports and Exercise
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The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I

2018 Journal of Immunology
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The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

2017 Clinical Genetics
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Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

2016 Neuromuscular Disorders
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Variable skeletal muscle involvement in VARS2 mitochondrial encephalomyopathy

2016 Neuromuscular Disorders
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COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.

2016 Cell Reports
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Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies

2016 Journal of Genetic Syndromes & Gene Therapy
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