Miguel Angel Martín Casanueva-rekin lankidetzan egindako argitalpenak (75)

2023

  1. Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse

    International Journal of Molecular Sciences, Vol. 24, Núm. 13

2022

  1. Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects

    Antioxidants, Vol. 11, Núm. 3

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

    Genes, Vol. 13, Núm. 10

  3. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

    International Journal of Molecular Sciences, Vol. 23, Núm. 9

  4. Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits

    Medicine and science in sports and exercise, Vol. 54, Núm. 8, pp. 1231-1241

  5. Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?

    Molecular metabolism, Vol. 66, pp. 101648

  6. Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

    Genes, Vol. 13, Núm. 1

2021

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

    Practical Laboratory Medicine, Vol. 25

  2. Small GTPases of the Ras superfamily and glycogen phosphorylase regulation in T cells

    Small GTPases, Vol. 12, Núm. 2, pp. 106-113

  3. Soluble fms-like tyrosine kinase-1: A potential early predictor of respiratory failure in COVID-19 patients

    Clinical Chemistry and Laboratory Medicine

2020

  1. Absence of p.R50X Pygm read-through in McArdle disease cellular models

    DMM Disease Models and Mechanisms, Vol. 13, Núm. 1

  2. Can routine laboratory variables predict survival in COVID-19? An artificial neural network-based approach

    Clinical Chemistry and Laboratory Medicine

  3. Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  4. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

  5. Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse

    Frontiers in Physiology, Vol. 11

  6. Novel ndufa13 mutations associated with oxphos deficiency and leigh syndrome: A second family report

    Genes, Vol. 11, Núm. 8, pp. 1-13

  7. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models

    International Journal of Molecular Sciences, Vol. 21, Núm. 24, pp. 1-50

  8. Sex differences and the influence of an active lifestyle on adiposity in patients with mcardle disease

    International Journal of Environmental Research and Public Health, Vol. 17, Núm. 12, pp. 1-11

  9. Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

    Molecular Genetics and Metabolism, Vol. 131, Núm. 3, pp. 341-348

2019

  1. Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model

    Scientific Reports, Vol. 9, Núm. 1