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Miguel A. Martín

Instituto de Salud Carlos III

70

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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.

2021 Genes
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

2021 Orphanet Journal of Rare Diseases
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The Effect of Cold Waves on Mortality in Urban and Rural Areas of Madrid

2021
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Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

2020 Scientific Reports
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Repensando un nuevo modelo de atención sanitaria: La consulta invertida como enfoque para el empoderamiento del paciente activo

2020
- Miguel A. Martín
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Small GTPases of the Ras superfamily and glycogen phosphorylase regulation in T cells

2019 Small GTPases
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Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities

2019 Molecular Genetics and Metabolism
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Late-onset thymidine kinase 2 deficiency: a review of 18 cases

2019 Orphanet Journal of Rare Diseases
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Non-osteogenic muscle hypertrophy in children with McArdle disease

2018 Journal of Inherited Metabolic Disease
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

2017 BMC Genomics
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Citations (32)