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Johanna Uusimaa Selected Research

fibroblast growth factor 21

1/2021Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
11/2016FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders.
9/2011FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

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Johanna Uusimaa Research Topics

Disease

14Mitochondrial Diseases (Mitochondrial Disease)
01/2023 - 08/2004
6Epilepsy (Aura)
04/2024 - 01/2009
5Seizures (Absence Seizure)
01/2024 - 06/2008
3Movement Disorders (Movement Disorder)
05/2024 - 01/2022
3Liver Failure
11/2014 - 08/2009
3MELAS Syndrome (Syndrome, MELAS)
02/2012 - 08/2004
2Liver Diseases (Liver Disease)
04/2024 - 06/2013
2Infections
04/2024 - 02/2006
2Ataxia Neuropathy Spectrum
04/2024 - 01/2010
2Brain Diseases (Brain Disorder)
01/2024 - 10/2012
2Dystonia (Limb Dystonia)
11/2022 - 01/2022
2Hypoglycemia (Reactive Hypoglycemia)
01/2022 - 01/2017
2Ophthalmoplegia (External Ophthalmoplegia)
01/2018 - 02/2016
2Drug Resistant Epilepsy
12/2017 - 06/2013
2Muscular Diseases (Myopathy)
11/2016 - 01/2015
2Acute Liver Failure (Fulminant Hepatic Failure)
11/2014 - 01/2010
2Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
06/2013 - 06/2008
2Mitochondrial encephalopathy
10/2012 - 09/2006
2Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
02/2012 - 09/2006
1Inflammation (Inflammations)
04/2024
1Virus Diseases (Viral Diseases)
04/2024
1Necrosis
04/2024
1Optic Atrophy
12/2023
1Sensorineural Hearing Loss
12/2023
1Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
01/2023
1Disease Progression
01/2023
1Chorea (Rheumatic Chorea)
11/2022
1Hyperkinesis
11/2022
1Parkinsonian Disorders (Parkinsonism)
11/2022
1Chronic Renal Insufficiency
03/2022
1Parkinson Disease (Parkinson's Disease)
01/2022
1Tremor (Tremors)
01/2022
1Rare Diseases (Rare Disease)
11/2021
1Fibrosis (Cirrhosis)
12/2018
1Angiomatosis
12/2018
1Pancreatitis
11/2018
1Cardiomyopathies (Cardiomyopathy)
01/2018
1Leigh Disease (Leigh's Disease)
01/2018
1Hepatomegaly
01/2018
1Ataxia (Dyssynergia)
01/2018
1Hematologic Neoplasms (Hematological Malignancy)
10/2017
1Neurologic Manifestations (Neurological Manifestations)
10/2017
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
06/2017
1Mitochondrial Myopathies (Mitochondrial Myopathy)
11/2016
1Succinate-Coa Ligase Deficiency
03/2016
1Methylmalonic acidemia
03/2016
1Optic Nerve Diseases (Optic Neuropathy)
02/2016
1Neuromuscular Diseases (Neuromuscular Disease)
01/2015
1Muscular Dystrophies (Muscular Dystrophy)
01/2015
1Failure to Thrive
04/2014

Drug/Important Bio-Agent (IBA)

17Mitochondrial DNA (mtDNA)IBA
04/2024 - 08/2004
6DNA Polymerase gammaIBA
04/2024 - 06/2013
6Valproic Acid (Depakote)FDA LinkGeneric
11/2018 - 06/2008
5Proteins (Proteins, Gene)FDA Link
05/2024 - 01/2018
5DNA (Deoxyribonucleic Acid)IBA
04/2024 - 08/2004
4Biomarkers (Surrogate Marker)IBA
01/2021 - 09/2011
3fibroblast growth factor 21IBA
01/2021 - 09/2011
3Electron Transport Complex IV (Cytochrome c Oxidase)IBA
05/2017 - 03/2003
2AcidsIBA
01/2022 - 01/2017
2Amino AcidsFDA Link
12/2020 - 06/2017
2Transfer RNA (tRNA)IBA
11/2016 - 10/2012
2EnzymesIBA
03/2016 - 02/2012
2Arg Transfer RNAIBA
02/2016 - 08/2004
2Electron Transport Complex I (NADH-CoQ Reductase)IBA
01/2016 - 09/2006
2Lactic Acid (Lactate)FDA LinkGeneric
02/2014 - 06/2013
1Mitochondrial RNAIBA
04/2024
1Interferon Type IIBA
04/2024
1Antiviral Agents (Antivirals)IBA
04/2024
1ChloridesIBA
01/2024
1RNA Helicases (RNA Helicase)IBA
12/2023
1Mercaptopurine (6 Mercaptopurine)FDA LinkGeneric
01/2023
1Methotrexate (Mexate)FDA LinkGeneric
01/2023
1Facilitative Glucose Transport Proteins (Glucose Transporter)IBA
11/2022
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
11/2022
1Neurotransmitter Agents (Neurotransmitter)IBA
11/2022
1Dopamine Agents (Dopaminergic Agents)IBA
11/2022
1PhosphoenolpyruvateIBA
01/2022
1Hypoglycemic Agents (Hypoglycemics)IBA
01/2022
1KetonesIBA
01/2022
1Growth Differentiation Factor 15IBA
01/2021
1Glycine (Aminoacetic Acid)FDA LinkGeneric
11/2018
1Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA
01/2018
1CollagenIBA
01/2018
1HomocysteineIBA
12/2017
1Fatty Acids (Saturated Fatty Acids)IBA
06/2017
1Riboflavin (Vitamin B2)FDA LinkGeneric
06/2017
1cytochrome C oxidase subunit IIIBA
05/2017
1Tricarboxylic AcidsIBA
01/2017
1Succinate-CoA Ligases (Succinyl Coenzyme A Synthetases)IBA
03/2016
1NADH DehydrogenaseIBA
01/2016
1Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
01/2016
1Succinate Cytochrome c OxidoreductaseIBA
01/2016

Therapy/Procedure

5Therapeutics
01/2023 - 01/2009
3Deep Brain Stimulation
11/2022 - 01/2022
2Liver Transplantation
11/2014 - 01/2010
1Ketogenic Diet
11/2022
1Electrodes (Electrode)
01/2022
1Hematopoietic Stem Cell Transplantation
10/2017
1Aftercare (After-Treatment)
10/2017
1Critical Care (Surgical Intensive Care)
04/2014