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Eduardo Ruiz-Pesini Selected Research

Kearns-Sayre Syndrome

3/2019Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.
11/2018Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
12/2014Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
8/2013Phylogenetic analysis of mitochondrial DNA in a patient with Kearns-Sayre syndrome containing a novel 7629-bp deletion.
11/2010Macular lesion resembling adult-onset vitelliform macular dystrophy in Kearns-Sayre syndrome with multiple mtDNA deletions.
8/2010Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

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Eduardo Ruiz-Pesini Research Topics

Disease

19Mitochondrial Diseases (Mitochondrial Disease)
10/2022 - 12/2008
9Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
10/2022 - 12/2008
6Kearns-Sayre Syndrome
03/2019 - 08/2010
5Sepsis (Septicemia)
11/2018 - 06/2011
4Hearing Loss (Hearing Impairment)
01/2014 - 08/2010
3Acquired Immunodeficiency Syndrome (AIDS)
11/2019 - 11/2008
2VLCAD deficiency
01/2022 - 09/2011
2Muscular Diseases (Myopathy)
01/2020 - 08/2008
2MELAS Syndrome (Syndrome, MELAS)
01/2020 - 04/2010
2Alzheimer Disease (Alzheimer's Disease)
01/2019 - 01/2014
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2019 - 04/2009
2Neoplasms (Cancer)
01/2019 - 01/2005
2Parkinson Disease (Parkinson's Disease)
08/2018 - 12/2008
2Necrosis
01/2016 - 12/2014
2Communicable Diseases (Infectious Diseases)
11/2011 - 01/2010
2Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
09/2009 - 04/2006
1Infections
01/2020
1Multiple Symmetrical Lipomatosis (Lipomatosis, Familial Benign Cervical)
01/2020
1Lipomatosis
01/2020
1Leigh Disease (Leigh's Disease)
01/2020
1Multidrug-Resistant Tuberculosis (Drug-Resistant Tuberculosis)
11/2019
1Malaria
11/2019
1Macular Degeneration (Age-Related Maculopathy)
02/2019
1Inborn Genetic Diseases (Disease, Hereditary)
01/2019
1Pathologic Neovascularization
01/2019
1Gastroesophageal Reflux (GERD)
12/2018
1Muscle Hypotonia (Hypotonia)
12/2018
1Diabetic Nephropathies (Diabetic Nephropathy)
08/2018
1Type 2 Diabetes Mellitus (MODY)
08/2018
1Optic Nerve Diseases (Optic Neuropathy)
01/2018
1Brain Diseases (Brain Disorder)
03/2016
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2016
1Ataxia (Dyssynergia)
01/2016
1Obesity
11/2015
1Metabolic Syndrome (Dysmetabolic Syndrome X)
11/2015
1Starvation
02/2014
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
02/2014
1Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2014
1Multiple Sclerosis
12/2013
1Demyelinating Diseases (Demyelinating Disease)
12/2013
1Drug-Related Side Effects and Adverse Reactions
03/2013

Drug/Important Bio-Agent (IBA)

39Mitochondrial DNA (mtDNA)IBA
01/2022 - 01/2005
7Biomarkers (Surrogate Marker)IBA
01/2021 - 06/2011
5Adenosine Triphosphate (ATP)IBA
01/2016 - 11/2008
3Growth Differentiation Factor 15IBA
01/2020 - 02/2014
3Folic Acid (Vitamin M)FDA LinkGeneric
11/2018 - 08/2010
3Peptides (Polypeptides)IBA
10/2018 - 08/2008
3Proteins (Proteins, Gene)FDA Link
06/2014 - 01/2010
3Electron Transport Complex IV (Cytochrome c Oxidase)IBA
06/2014 - 01/2005
3AminoglycosidesIBA
01/2014 - 11/2011
3Anti-Bacterial Agents (Antibiotics)IBA
03/2013 - 01/2010
2Electron Transport Complex I (NADH-CoQ Reductase)IBA
10/2022 - 10/2018
212S ribosomal RNAIBA
01/2020 - 11/2011
2NucleotidesIBA
01/2019 - 11/2011
2Biogenic Amines (Biogenic Amine)IBA
11/2018 - 08/2010
2XenobioticsIBA
08/2018 - 11/2011
2tributyltinIBA
01/2016 - 11/2015
2Citrate (si)-Synthase (Synthase, Citrate)IBA
06/2014 - 06/2011
2DNA (Deoxyribonucleic Acid)IBA
04/2009 - 12/2008
2Reactive Oxygen Species (Oxygen Radicals)IBA
11/2008 - 01/2005
1Transfer RNA (tRNA)IBA
10/2022
1Ceftriaxone (Ceftriaxon)FDA LinkGeneric
01/2020
1Linezolid (Zyvox)FDA Link
11/2019
1Atovaquone (Mepron)FDA Link
11/2019
1Zidovudine (Retrovir)FDA LinkGeneric
11/2019
1Ranibizumab (Lucentis)FDA Link
02/2019
1Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
01/2019
1Leucine-Rich Repeat ProteinsIBA
01/2019
1UridineIBA
01/2019
1Hydro-Lyases (Dehydratases)IBA
01/2019
16-hydroxy-1,4,5,6-tetrahydronicotinamide adenine dinucleotideIBA
01/2019
1NAD (NADH)IBA
01/2019
1Retinaldehyde (Retinal)IBA
01/2019
1Messenger RNA (mRNA)IBA
01/2019
1pyrimidineIBA
01/2019
1Lactic Acid (Lactate)FDA LinkGeneric
12/2018
1PterinsIBA
11/2018
1Dopamine (Intropin)FDA LinkGeneric
11/2018
1bullatacinIBA
10/2018
1RotenoneIBA
10/2018
1Capsaicin (Zostrix)FDA Link
10/2018
1Persistent Organic PollutantsIBA
08/2018
1Pyruvic Acid (Pyruvate)IBA
03/2016
1Oxidoreductases (Dehydrogenase)IBA
03/2016
1coenzyme Q10 (CoQ10)IBA
03/2016
1elongation factor Ts (EF-Ts)IBA
01/2016
1ATP synthase subunit 6IBA
01/2016
1fibroblast growth factor 21IBA
01/2016
1Environmental Pollutants (Pollutants, Environmental)IBA
11/2015
1LeptinIBA
11/2015
1Leucovorin (Folinic Acid)FDA Link
12/2014
1Glucose (Dextrose)FDA LinkGeneric
02/2014
1thymidine kinase 2IBA
02/2014
1GlycogenIBA
02/2014
1Pyrimidine NucleotidesIBA
01/2014
1Tacrolimus (Prograf)FDA LinkGeneric
12/2013
1Pharmaceutical PreparationsIBA
12/2013

Therapy/Procedure

4Therapeutics
01/2022 - 12/2013
2Highly Active Antiretroviral Therapy (HAART)
06/2009 - 11/2008
1Ketogenic Diet
01/2019