Robert W Taylor Selected Research

Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)

1/2020	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
1/2020	Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNAPro) gene variant.
1/2020	Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1.
1/2019	A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
1/2018	Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
1/2018	Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
12/2016	Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.
10/2016	Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
6/2015	SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
1/2015	Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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Robert W Taylor Research Topics

Disease

105	Mitochondrial Diseases (Mitochondrial Disease) 04/2022 - 07/2002
25	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 09/2003
23	Muscular Diseases (Myopathy) 05/2022 - 10/2002
16	Cytochrome-c Oxidase Deficiency 06/2019 - 06/2006
13	Cardiomyopathies (Cardiomyopathy) 04/2022 - 09/2010
13	Ataxia (Dyssynergia) 07/2020 - 10/2002
13	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019 - 10/2002
10	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 02/2002
10	Lactic Acidosis 01/2020 - 10/2002
9	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2022 - 03/2006
9	Leigh Disease (Leigh's Disease) 01/2020 - 02/2002
9	Brain Diseases (Brain Disorder) 01/2020 - 01/2004
8	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021 - 05/2003
8	Neoplasms (Cancer) 12/2020 - 04/2003
8	Muscle Hypotonia (Hypotonia) 12/2018 - 09/2012
8	Deafness (Deaf Mutism) 01/2017 - 09/2004
7	Seizures (Absence Seizure) 01/2019 - 10/2016
6	Epilepsy (Aura) 10/2022 - 08/2012
6	Ophthalmoplegia (External Ophthalmoplegia) 01/2022 - 07/2005
5	MELAS Syndrome (Syndrome, MELAS) 09/2013 - 09/2004
4	Stroke (Strokes) 01/2022 - 10/2009
4	Atrophy 01/2022 - 01/2012
4	Sensorineural Hearing Loss 01/2022 - 10/2002
4	Optic Atrophy 01/2021 - 12/2013
4	Hearing Loss (Hearing Impairment) 09/2019 - 09/2010
4	Liver Failure 01/2019 - 09/2008
4	Cataract (Cataracts) 11/2018 - 02/2013
4	Kearns-Sayre Syndrome 11/2018 - 08/2004
4	Disease Progression 01/2017 - 10/2012
4	Fatigue 01/2017 - 08/2012
4	Leukoencephalopathies 01/2017 - 07/2012
3	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022 - 01/2018
3	Nervous System Diseases (Neurological Disorders) 10/2021 - 07/2008
3	Carcinogenesis 01/2021 - 10/2019
3	Mitochondrial complex I deficiency 01/2020 - 01/2016
3	Heart Diseases (Heart Disease) 09/2019 - 05/2003
3	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2019 - 01/2015
3	Cholestasis 10/2018 - 10/2002
3	Respiratory Insufficiency (Respiratory Failure) 01/2018 - 12/2013
3	Cerebellar Ataxia (Dysmetria) 01/2018 - 11/2014
3	Infections 10/2017 - 09/2006
3	Parkinsonian Disorders (Parkinsonism) 01/2016 - 10/2006
3	Sepsis (Septicemia) 11/2011 - 04/2004
2	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 10/2022 - 01/2019
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2022 - 01/2019
2	Cataract and cardiomyopathy 04/2022 - 08/2014
2	Cardiac Sudden Death (Sudden Cardiac Arrest) 12/2021 - 01/2016
2	Dystonia (Limb Dystonia) 07/2021 - 01/2016
2	Rhabdomyolysis 01/2020 - 02/2004
2	Spastic Ataxia 01/2020 - 05/2014
2	Paresis (Hemiparesis) 01/2020 - 01/2014
2	Cognitive Dysfunction 01/2020 - 01/2015
2	Acute Liver Failure (Fulminant Hepatic Failure) 10/2018 - 12/2016
2	Neurologic Manifestations (Neurological Manifestations) 04/2018 - 11/2016
2	Hypersensitivity (Allergy) 01/2018 - 07/2011
2	Epilepsia Partialis Continua 01/2018 - 01/2018
2	Genomic Instability 01/2018 - 01/2016
2	Inflammation (Inflammations) 10/2017 - 04/2012
2	Drug Resistant Epilepsy 01/2017 - 12/2013
2	Liver Diseases (Liver Disease) 12/2016 - 01/2011

Drug/Important Bio-Agent (IBA)

137	Mitochondrial DNA (mtDNA)IBA 10/2022 - 02/2002
23	Proteins (Proteins, Gene)FDA Link 01/2022 - 03/2006
19	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2020 - 02/2004
17	EnzymesIBA 01/2022 - 01/2004
16	Lactic Acid (Lactate)FDA LinkGeneric 01/2022 - 10/2004
16	Transfer RNA (tRNA)IBA 10/2021 - 02/2002
14	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 01/2004
6	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2022 - 09/2014
5	Biomarkers (Surrogate Marker)IBA 05/2022 - 11/2016
5	Amino Acids FDA Link 01/2020 - 10/2002
4	RNA (Ribonucleic Acid)IBA 01/2022 - 05/2003
4	Biological ProductsIBA 01/2022 - 01/2002
4	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 12/2021 - 10/2002
4	coenzyme Q10 (CoQ10)IBA 07/2020 - 02/2012
4	NucleotidesIBA 01/2020 - 10/2002
4	Lys Transfer RNAIBA 01/2017 - 09/2007
4	Ile Transfer RNAIBA 07/2013 - 10/2002
3	Ligases (Synthetase)IBA 09/2022 - 01/2015
3	MethyltransferasesIBA 01/2022 - 05/2016
3	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 01/2018 - 01/2014
3	Glu Transfer RNAIBA 02/2013 - 04/2004
3	Ser Transfer RNAIBA 08/2012 - 07/2004
3	Phe Transfer RNAIBA 11/2010 - 02/2004
2	Inorganic Pyrophosphatase (Pyrophosphatase, Inorganic)IBA 12/2021 - 01/2016
2	Ribonuclease P (RNase P)IBA 11/2021 - 05/2016
2	TransferasesIBA 10/2021 - 10/2018
2	LipidsIBA 07/2020 - 01/2020
2	Pro Transfer RNAIBA 01/2020 - 03/2009
2	fibroblast growth factor 21IBA 01/2020 - 11/2016
2	Mitochondrial RNAIBA 10/2019 - 08/2013
2	Alanine-tRNA LigaseIBA 01/2019 - 01/2015
2	Inosine TriphosphataseIBA 01/2019 - 03/2013
2	Retinaldehyde (Retinal)IBA 11/2018 - 01/2017
2	Peptide Hydrolases (Proteases)FDA Link 01/2018 - 01/2015
2	DesminIBA 10/2016 - 06/2013

Therapy/Procedure

5	Therapeutics 10/2022 - 09/2010
2	Cochlear Implants (Cochlear Implant) 12/2017 - 03/2015
2	Mechanical Ventilators (Ventilator) 10/2016 - 06/2014
2	Drug Therapy (Chemotherapy) 10/2016 - 04/2003
2	Length of Stay 01/2016 - 09/2006