Gavin Falkous Selected Research

GMP Reductase

1/2020

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.

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Gavin Falkous Research Topics

Disease

5	Mitochondrial Diseases (Mitochondrial Disease) 11/2021 - 02/2014
5	Muscular Diseases (Myopathy) 01/2020 - 02/2014
4	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019 - 08/2012
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 01/2019
2	Cytochrome-c Oxidase Deficiency 06/2019 - 07/2015
1	Mitochondrial complex I deficiency 01/2020
1	Late Onset Disorders 01/2020
1	Paresis (Hemiparesis) 01/2020
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2019
1	Cardiomyopathies (Cardiomyopathy) 01/2019
1	Brain Diseases (Brain Disorder) 01/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2019
1	Seizures (Absence Seizure) 01/2019
1	Sideroblastic Anemia 01/2017
1	Pontocerebellar Hypoplasia Type 6 07/2015
1	Respiratory Insufficiency (Respiratory Failure) 06/2014
1	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 06/2014
1	Myotonic Dystrophy (Dystrophia Myotonica) 06/2014
1	Myasthenia Gravis 06/2014
1	Disease Progression 02/2014
1	Kearns-Sayre Syndrome 02/2014

Drug/Important Bio-Agent (IBA)

11	Mitochondrial DNA (mtDNA)IBA 11/2021 - 02/2014
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2019 - 08/2012
2	Transfer RNA (tRNA)IBA 01/2020 - 01/2019
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 01/2017
1	NucleotidesIBA 01/2020
1	Pro Transfer RNAIBA 01/2020
1	Tyr Transfer RNAIBA 01/2020
1	GMP ReductaseIBA 01/2020
1	Peptide Elongation Factors (Elongation Factor)IBA 01/2019
1	Inosine TriphosphataseIBA 01/2019
1	Met Transfer RNAIBA 01/2019
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 07/2015
1	EnzymesIBA 07/2015
1	Cholinergic ReceptorsIBA 06/2014
1	Lys Transfer RNAIBA 06/2014

Therapy/Procedure

1	Mechanical Ventilators (Ventilator) 06/2014