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Rita Horvath Selected Research

Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)

10/2019Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
1/2018The genotypic and phenotypic spectrum of MTO1 deficiency.

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Rita Horvath Research Topics

Disease

38Mitochondrial Diseases (Mitochondrial Disease)
03/2024 - 10/2008
14Ataxia (Dyssynergia)
01/2021 - 07/2005
9Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
11/2022 - 11/2017
8Muscular Diseases (Myopathy)
10/2021 - 07/2005
7Peripheral Nervous System Diseases (PNS Diseases)
03/2024 - 05/2012
7Disease Progression
11/2022 - 11/2011
7Cytochrome-c Oxidase Deficiency
01/2022 - 10/2003
7Mitochondrial Myopathies (Mitochondrial Myopathy)
10/2021 - 08/2007
6Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
09/2023 - 09/2014
6Epilepsy (Aura)
01/2021 - 11/2010
5Muscle Weakness
08/2023 - 11/2011
4Atrophy
11/2023 - 01/2018
4Optic Atrophy
01/2023 - 05/2012
4Brain Diseases (Brain Disorder)
01/2022 - 03/2008
4Inborn Genetic Diseases (Disease, Hereditary)
01/2019 - 03/2011
4Cerebellar Ataxia (Dysmetria)
12/2018 - 11/2014
4Cardiomyopathies (Cardiomyopathy)
01/2018 - 11/2011
4Liver Failure
01/2016 - 02/2011
4Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
07/2011 - 12/2005
3Muscle Hypotonia (Hypotonia)
11/2023 - 01/2018
3Drug Resistant Epilepsy
01/2022 - 12/2013
3Seizures (Absence Seizure)
01/2022 - 01/2018
3Leigh Disease (Leigh's Disease)
01/2021 - 07/2009
3Brown-Vialetto-Van Laere syndrome
01/2021 - 01/2014
3Rare Diseases (Rare Disease)
01/2021 - 01/2017
3Lactic Acidosis
01/2020 - 10/2012
3Neuromuscular Diseases (Neuromuscular Disease)
01/2020 - 01/2019
3Dystonia (Limb Dystonia)
01/2019 - 05/2012
3Spastic ataxia Charlevoix-Saguenay type
12/2018 - 12/2013
3Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2015 - 08/2004
3Hereditary Myopathy with Early Respiratory Failure
04/2014 - 06/2012
2Cognitive Dysfunction
03/2024 - 01/2020
2Intellectual Disability (Idiocy)
11/2023 - 01/2021
2Fatigue
06/2023 - 04/2016
2Type 2D Charcot-Marie-Tooth disease
11/2022 - 01/2020
2Microcephaly
01/2022 - 01/2020
2Metabolic Diseases (Metabolic Disease)
01/2022 - 12/2014
2Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
01/2022 - 01/2016
2Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
01/2021 - 01/2019
2Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2019 - 01/2018
2Carcinogenesis
10/2019 - 01/2018
2Spinal Muscular Atrophy (Progressive Muscular Atrophy)
10/2018 - 07/2014
2Tremor (Tremors)
01/2018 - 12/2016
2Hearing Loss (Hearing Impairment)
01/2018 - 01/2016
2Liver Diseases (Liver Disease)
01/2016 - 01/2011
2Leukoencephalopathies
01/2015 - 06/2009
2Migraine Disorders (Migraine)
05/2014 - 11/2010
2Bipolar Disorder (Manic Depressive Psychosis)
05/2014 - 11/2010
2Headache Disorders (Headache Syndromes)
05/2014 - 11/2010
2Respiratory Insufficiency (Respiratory Failure)
03/2014 - 12/2013
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2013 - 07/2011
2Multiple Acyl Coenzyme A Dehydrogenase Deficiency
07/2012 - 08/2007
2MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
12/2011 - 01/2007
2Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
11/2010 - 05/2009
1Renal Tubular Acidosis (Distal Renal Tubular Acidosis)
04/2024

Drug/Important Bio-Agent (IBA)

36Mitochondrial DNA (mtDNA)IBA
10/2021 - 08/2004
26Proteins (Proteins, Gene)FDA Link
01/2023 - 11/2011
12EnzymesIBA
01/2022 - 02/2010
8Biomarkers (Surrogate Marker)IBA
11/2022 - 08/2013
7DNA (Deoxyribonucleic Acid)IBA
10/2021 - 01/2011
6Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2022 - 07/2009
6Riboflavin (Vitamin B2)FDA LinkGeneric
10/2021 - 07/2012
6Transfer RNA (tRNA)IBA
01/2021 - 05/2015
6coenzyme Q10 (CoQ10)IBA
01/2020 - 08/2007
4Mitochondrial Proteins (Mitochondrial Protein)IBA
03/2024 - 03/2014
4LipidsIBA
10/2021 - 08/2007
4Ligases (Synthetase)IBA
01/2021 - 01/2015
3Valproic Acid (Depakote)FDA LinkGeneric
04/2024 - 11/2010
3IronIBA
04/2024 - 05/2012
3Amino AcidsFDA Link
12/2020 - 01/2015
3Cholinergic ReceptorsIBA
01/2020 - 08/2006
3Synaptotagmin IIIBA
01/2017 - 09/2014
3ConnectinIBA
04/2014 - 06/2012
2CalciumIBA
03/2024 - 09/2014
2Lactic Acid (Lactate)FDA LinkGeneric
11/2023 - 01/2018
2Adrenergic Agonists (Adrenergic Receptor Agonist)IBA
09/2023 - 01/2019
2Cholinesterase Inhibitors (Anticholinesterases)IBA
09/2023 - 08/2023
2Proteasome Endopeptidase Complex (Proteasome)IBA
07/2023 - 05/2023
2Albuterol (Salbutamol)FDA LinkGeneric
06/2023 - 01/2019
2Nonsense Codon (Nonsense Mutation)IBA
01/2022 - 01/2020
2Metalloproteases (Metalloproteinases)IBA
01/2022 - 03/2016
2Serine (L-Serine)FDA Link
01/2021 - 01/2021
2Phosphotransferases (Kinase)IBA
10/2020 - 03/2014
2Fatty Acids (Saturated Fatty Acids)IBA
01/2020 - 01/2018
2Exosome Multienzyme Ribonuclease ComplexIBA
01/2020 - 01/2018
2fibroblast growth factor 21IBA
01/2020 - 11/2016
2Retinaldehyde (Retinal)IBA
12/2018 - 05/2014
2Carrier Proteins (Binding Protein)IBA
01/2018 - 01/2018
2Messenger RNA (mRNA)IBA
11/2017 - 07/2014
2Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
05/2017 - 07/2012
2Cysteine (L-Cysteine)FDA Link
01/2016 - 12/2011
2RNA (Ribonucleic Acid)IBA
01/2015 - 01/2011
2Creatine Kinase (Creatine Phosphokinase)IBA
05/2012 - 11/2011
2Lys Transfer RNAIBA
12/2011 - 01/2007
2DNA Polymerase gammaIBA
11/2010 - 07/2005
1Topiramate (Topamax)FDA LinkGeneric
04/2024
1VigabatrinFDA Link
04/2024
1Transaminases (Aminotransferases)IBA
04/2024

Therapy/Procedure

14Therapeutics
08/2023 - 01/2007
3Ketogenic Diet
01/2022 - 10/2010