Miguel Ángel Martín Selected Research

Mitochondrial DNA (mtDNA)

1/2019	Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
11/2014	Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

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Miguel Ángel Martín Research Topics

Disease

2	Mitochondrial Diseases (Mitochondrial Disease) 03/2022 - 01/2019
2	Muscle Hypotonia (Hypotonia) 01/2016 - 11/2014
2	Muscular Dystrophies (Muscular Dystrophy) 01/2016 - 11/2014
1	Disease Progression 06/2023
1	Neuroinflammatory Diseases 06/2023
1	Respiratory Insufficiency (Respiratory Failure) 05/2021
1	Rhabdomyolysis 03/2021
1	Muscle Weakness 11/2014
1	Intellectual Disability (Idiocy) 04/2012

Drug/Important Bio-Agent (IBA)

2	thymidine kinase 2IBA 05/2021 - 03/2021
2	Mitochondrial DNA (mtDNA)IBA 01/2019 - 11/2014
2	Choline KinaseIBA 01/2016 - 11/2014
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2016 - 11/2014
1	gamma-Aminobutyric Acid (GABA)IBA 06/2023
1	Glutamic Acid (Glutamate)FDA Link 06/2023
1	Proteins (Proteins, Gene)FDA Link 06/2023
1	Amino Acids FDA Link 06/2023
1	Apoptosis Inducing FactorIBA 03/2022
1	Aspartate Aminotransferases (Aspartate Transaminase)IBA 01/2016
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2016

Therapy/Procedure

1	Contraindications 04/2012