Robert W Taylor Selected Research

Cardiomyopathies (Cardiomyopathy)

4/2022	Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease.
1/2019	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
1/2019	Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
1/2018	Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
1/2018	The genotypic and phenotypic spectrum of MTO1 deficiency.
10/2016	Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
3/2016	Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.
1/2016	Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
1/2015	Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
7/2013	Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

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Robert W Taylor Research Topics

Disease

112	Mitochondrial Diseases (Mitochondrial Disease) 11/2023 - 07/2002
26	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2022 - 09/2003
25	Muscular Diseases (Myopathy) 03/2024 - 10/2002
16	Cytochrome-c Oxidase Deficiency 06/2019 - 06/2006
15	Mitochondrial Myopathies (Mitochondrial Myopathy) 10/2022 - 10/2002
13	Cardiomyopathies (Cardiomyopathy) 04/2022 - 09/2010
13	Ataxia (Dyssynergia) 07/2020 - 10/2002
11	Inborn Genetic Diseases (Disease, Hereditary) 03/2024 - 02/2002
10	Leigh Disease (Leigh's Disease) 10/2023 - 02/2002
10	Lactic Acidosis 01/2020 - 10/2002
9	Muscle Hypotonia (Hypotonia) 11/2023 - 09/2012
9	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2022 - 03/2006
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	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	Atrophy 11/2023 - 01/2012
5	Stroke (Strokes) 10/2023 - 10/2009
5	Leukoencephalopathies 12/2022 - 07/2012
5	Fatigue 09/2022 - 08/2012
5	MELAS Syndrome (Syndrome, MELAS) 09/2013 - 09/2004
4	Neuromuscular Diseases (Neuromuscular Disease) 03/2024 - 06/2006
4	Sensorineural Hearing Loss 01/2022 - 10/2002
4	Parkinsonian Disorders (Parkinsonism) 01/2022 - 10/2006
4	Optic Atrophy 01/2021 - 12/2013
4	Hearing Loss (Hearing Impairment) 09/2019 - 09/2010
4	Cataract (Cataracts) 11/2018 - 02/2013
4	Kearns-Sayre Syndrome 11/2018 - 08/2004
4	Disease Progression 01/2017 - 10/2012
3	Inflammation (Inflammations) 01/2024 - 04/2012
3	Neurologic Manifestations (Neurological Manifestations) 01/2023 - 11/2016
3	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023 - 12/2016
3	Drug Resistant Epilepsy 01/2023 - 12/2013
3	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 01/2023 - 01/2019
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	Liver Failure 03/2014 - 09/2008
3	Sepsis (Septicemia) 11/2011 - 04/2004
2	Alzheimer Disease (Alzheimer's Disease) 04/2024 - 01/2023
2	Intellectual Disability (Idiocy) 11/2023 - 01/2018
2	Dementia (Dementias) 01/2023 - 11/2010
2	Cataract and cardiomyopathy 04/2022 - 08/2014
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2022 - 01/2019
2	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022 - 01/2018
2	Cardiac Sudden Death (Sudden Cardiac Arrest) 12/2021 - 01/2016
2	Dystonia (Limb Dystonia) 07/2021 - 01/2016
2	Cognitive Dysfunction 01/2020 - 01/2015
2	Paresis (Hemiparesis) 01/2020 - 01/2014
2	Rhabdomyolysis 01/2020 - 02/2004
2	Spastic Ataxia 01/2020 - 05/2014
2	Genomic Instability 01/2018 - 01/2016
2	Epilepsia Partialis Continua 01/2018 - 01/2018

Drug/Important Bio-Agent (IBA)

140	Mitochondrial DNA (mtDNA)IBA 01/2023 - 02/2002
27	Proteins (Proteins, Gene)FDA Link 03/2024 - 03/2006
19	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2020 - 02/2004
18	EnzymesIBA 01/2023 - 01/2004
17	Lactic Acid (Lactate)FDA LinkGeneric 11/2023 - 10/2004
16	Transfer RNA (tRNA)IBA 10/2021 - 02/2002
14	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 01/2004
8	Biomarkers (Surrogate Marker)IBA 01/2024 - 11/2016
6	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2022 - 09/2014
5	Amino Acids FDA Link 01/2020 - 10/2002
4	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 11/2023 - 01/2014
4	RNA (Ribonucleic Acid)IBA 01/2022 - 05/2003
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	IronIBA 12/2022 - 10/2002
3	MethyltransferasesIBA 01/2022 - 05/2016
3	Ligases (Synthetase)IBA 01/2022 - 01/2015
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	Hepatocyte Growth Factor (Growth Factor, Hepatocyte)IBA 04/2024 - 01/2023
2	SulfurIBA 12/2022 - 06/2010
2	acipimoxIBA 10/2022 - 09/2022
2	Adenosine Triphosphate (ATP)IBA 09/2022 - 08/2018
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	fibroblast growth factor 21IBA 01/2020 - 11/2016
2	Pro Transfer RNAIBA 01/2020 - 03/2009
2	Mitochondrial RNAIBA 10/2019 - 08/2013
2	Inosine TriphosphataseIBA 01/2019 - 03/2013
2	Alanine-tRNA LigaseIBA 01/2019 - 01/2015
2	Retinaldehyde (Retinal)IBA 11/2018 - 01/2017

Therapy/Procedure

6	Therapeutics 01/2023 - 09/2010