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Ramon Martí Selected Research

Combined Oxidative Phosphorylation Deficiency 1

1/2022Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations.

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Ramon Martí Research Topics

Disease

12Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 03/2003
5Muscular Diseases (Myopathy)
08/2021 - 05/2013
5Glycogen Storage Disease Type V (McArdle's Disease)
06/2015 - 10/2010
3Visceral myopathy familial external ophthalmoplegia
10/2015 - 03/2003
2Rare Diseases (Rare Disease)
10/2021 - 10/2021
2Hypertrophy
01/2018 - 10/2011
2Cardiomegaly (Heart Hypertrophy)
01/2018 - 10/2011
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2011 - 07/2003
1Combined Oxidative Phosphorylation Deficiency 1
01/2022
1Lactic Acidosis
08/2021
1Myopathy with lactic acidosis and sideroblastic anemia
08/2021
1Sideroblastic Anemia
08/2021
1Type 2 Diabetes Mellitus (MODY)
01/2019
1Obesity
01/2019
1Genomic Instability
01/2016
1Fibrosis (Cirrhosis)
11/2015
1Liver Cirrhosis (Hepatic Cirrhosis)
11/2015
1Liver Diseases (Liver Disease)
10/2015
1Peripheral Nervous System Diseases (PNS Diseases)
10/2015
1Fatigue
12/2014
1Contracture
12/2014
1Hypoxia (Hypoxemia)
10/2014
1Infections
08/2014
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
05/2013
1Muscular Dystrophies (Muscular Dystrophy)
05/2013
1Inborn Genetic Diseases (Disease, Hereditary)
07/2012
1Glycogen Storage Disease (Glycogenosis)
07/2012
1Heart Diseases (Heart Disease)
10/2011
1Ophthalmoplegia (External Ophthalmoplegia)
01/2011
1Hearing Loss (Hearing Impairment)
08/2010
1Primary Graft Dysfunction
04/2004
1Communication Disorders (Communication Disorder)
01/2004
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
01/2004
1Microcephaly
07/2003

Drug/Important Bio-Agent (IBA)

12Mitochondrial DNA (mtDNA)IBA
06/2021 - 03/2003
5EnzymesIBA
01/2022 - 01/2012
3DeoxyuridineIBA
01/2016 - 03/2003
3Glycogen Phosphorylase (Phosphorylase, Glycogen)IBA
06/2015 - 10/2010
3Protein Isoforms (Isoforms)IBA
05/2015 - 07/2003
2thymidine kinase 2IBA
10/2021 - 06/2015
2Thymidine PhosphorylaseIBA
10/2021 - 03/2003
2Thymidine KinaseIBA
01/2019 - 07/2003
2endonuclease GIBA
01/2018 - 10/2011
2Reactive Oxygen Species (Oxygen Radicals)IBA
01/2018 - 10/2011
2ThymidineIBA
01/2016 - 05/2014
2DNA (Deoxyribonucleic Acid)IBA
01/2016 - 01/2004
2Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA
12/2014 - 07/2012
2Proteins (Proteins, Gene)FDA Link
10/2014 - 05/2013
2NucleotidesIBA
05/2013 - 07/2003
1polyacrylamideIBA
01/2022
1Peptide Elongation Factors (Elongation Factor)IBA
01/2022
1Tyrosine-tRNA LigaseIBA
08/2021
1Growth Differentiation Factor 15IBA
01/2020
1Biomarkers (Surrogate Marker)IBA
01/2020
1Glucose (Dextrose)FDA LinkGeneric
01/2019
1humaninIBA
01/2018
1triphosphoric acid (triphosphate)IBA
01/2016
1Ritonavir (Norvir)FDA Link
11/2015
1Darunavir (Prezista)FDA Link
11/2015
1AntigensIBA
10/2015
1Valproic Acid (Depakote)FDA LinkGeneric
05/2015
1GlycogenIBA
05/2015
1Matrix Metalloproteinase 2 (Gelatinase A)IBA
10/2014
1Oxygen (Dioxygen)IBA
10/2014
1Messenger RNA (mRNA)IBA
10/2014
1Serotonin (5 Hydroxytryptamine)IBA
10/2014
1UridineIBA
10/2014
1Interleukin-6 (Interleukin 6)IBA
10/2014
1CytokinesIBA
10/2014
1Interleukin-8 (Interleukin 8)IBA
10/2014
1Interleukin-10 (Interleukin 10)IBA
10/2014
1Equilibrative-Nucleoside Transporter 2IBA
10/2014
1Cyclin-Dependent Kinases (cdk Proteins)IBA
08/2014
1Terminator Codon (Termination Codon)IBA
05/2013
1Karyopherins (Importin)IBA
05/2013
1Nonsense Codon (Nonsense Mutation)IBA
07/2012
1Cytochromes c (Cytochrome c)IBA
01/2011
1Ala Transfer RNAIBA
01/2011
1Adenosine Diphosphate (ADP)IBA
07/2003
1deoxyguanosine kinaseIBA
07/2003
1Adenosine Triphosphate (ATP)IBA
07/2003
1Diphosphates (Pyrophosphates)IBA
07/2003
1NucleosidesIBA
07/2003

Therapy/Procedure

1Therapeutics
01/2019
1Stem Cell Transplantation
10/2015
1Transplantation
10/2015
1Liver Transplantation
04/2004