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Robert W Taylor Selected Research

Mitochondrial Diseases (Mitochondrial Disease)

7/2015Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
5/2015Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
3/2015The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
1/2015Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
1/2015A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.
1/2015Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.
1/2015Mitochondrial pathology in progressive cerebellar ataxia.
1/2015Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.
12/2014Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
11/2014A national perspective on prenatal testing for mitochondrial disease.
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Robert W Taylor Research Topics

Disease

46Mitochondrial Diseases (Mitochondrial Disease)
07/2015 - 07/2002
17Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
06/2015 - 09/2003
15Muscular Diseases (Myopathy)
12/2015 - 10/2002
13Lactic Acidosis
01/2015 - 10/2002
8Deafness (Deaf Mutism)
05/2015 - 09/2004
8Ataxia (Dyssynergia)
01/2015 - 10/2002
8Mitochondrial Myopathies (Mitochondrial Myopathy)
12/2013 - 10/2002
7Cardiomyopathies (Cardiomyopathy)
07/2015 - 09/2010
6Epilepsy (Aura)
05/2015 - 08/2012
6Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
01/2014 - 05/2003
6Neoplasms (Cancer)
01/2012 - 04/2003
5Neurodegenerative Diseases (Neurodegenerative Disease)
09/2014 - 03/2006
5Stroke (Strokes)
09/2013 - 09/2004
3Ophthalmoplegia (External Ophthalmoplegia)
06/2015 - 07/2005
3Cataract (Cataracts)
01/2015 - 02/2013
3Leukoencephalopathies
01/2015 - 07/2012
3Cytochrome-c Oxidase Deficiency
09/2014 - 03/2009
3Liver Failure
03/2014 - 09/2008
3Kearns-Sayre Syndrome
02/2014 - 08/2004
3Leigh Disease (Leigh's Disease)
01/2013 - 02/2002
3Sepsis (Septicemia)
01/2011 - 04/2004
2Atrophy
04/2015 - 01/2012
2Hearing Loss (Hearing Impairment)
03/2015 - 09/2010
2Anaphylaxis (Anaphylactic Shock)
01/2015 - 07/2011
2Bites and Stings (Sting)
01/2015 - 07/2011
2Cerebellar Ataxia (Dysmetria)
01/2015 - 11/2014
2Sensorineural Hearing Loss
01/2015 - 10/2002
2Respiratory Insufficiency (Respiratory Failure)
06/2014 - 12/2013
2MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2014 - 03/2009
2Cholestasis
03/2014 - 10/2002
2Muscle Hypotonia (Hypotonia)
02/2014 - 09/2012
2Osteoarthritis
02/2013 - 08/2010
2Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
10/2012 - 02/2008
2Nervous System Diseases (Neurological Disorders)
08/2010 - 07/2008
2Heart Diseases (Heart Disease)
01/2010 - 05/2003
2Parkinsonian Disorders (Parkinsonism)
04/2007 - 10/2006
2Cross Infection (Nosocomial Infection)
09/2006 - 10/2002
2Critical Illness (Critically Ill)
09/2006 - 10/2002
1Acidosis
09/2015
1Hydrops Fetalis (Fetal Edema)
07/2015
1Dysarthria (Spastic Dysarthria)
06/2015
1Pulmonary Embolism
06/2015
1Heart Arrest (Cardiac Arrest)
06/2015
1Hypophosphatemia
03/2015
1Hyponatremia
03/2015
1Myositis (Idiopathic Inflammatory Myopathies)
01/2015
1AIDS-Related Complex (ARC)
01/2015
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2015
1Sarcopenia
01/2015
1Metabolic Diseases (Metabolic Disease)
12/2014
1Myasthenia Gravis
06/2014
1Myotonic Dystrophy (Dystrophia Myotonica)
06/2014
1Muscle Spasticity (Spastic)
05/2014
1Disease Progression
02/2014

Drug/Important Bio-Agent (IBA)

75Mitochondrial DNA (mtDNA)IBA
06/2015 - 02/2002
13Electron Transport Complex IV (Cytochrome c Oxidase)IBA
09/2014 - 02/2004
12DNA (Deoxyribonucleic Acid)IBA
05/2015 - 01/2004
8Transfer RNA (tRNA)IBA
09/2013 - 05/2003
4Phe Transfer RNAIBA
01/2014 - 02/2004
4Ile Transfer RNAIBA
07/2013 - 10/2002
3Lactic AcidFDA LinkGeneric
09/2015 - 10/2004
3Mitochondrial encephalopathyIBA
08/2013 - 01/2009
3Glu Transfer RNAIBA
02/2013 - 04/2004
3Ser Transfer RNAIBA
08/2012 - 07/2004
3RNA (Ribonucleic Acid)IBA
01/2011 - 05/2003
2Ala Transfer RNAIBA
12/2015 - 01/2008
2Creatine Kinase (Creatine Phosphokinase)IBA
09/2015 - 10/2012
2ProteomeIBA
03/2015 - 06/2014
2VenomsIBA
01/2015 - 07/2011
2Proteins (Proteins, Gene)IBA
01/2015 - 02/2008
2LigasesIBA
01/2015 - 01/2014
2coenzyme Q10 (CoQ10)IBA
11/2014 - 02/2012
2Mitochondrial Proteins (Mitochondrial Protein)IBA
09/2014 - 01/2011
2Lys Transfer RNAIBA
06/2014 - 09/2007
2Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
09/2013 - 08/2010
2Finnish lethal neonatal metabolic syndromeIBA
09/2013 - 10/2002
2Nitric Oxide (Nitrogen Monoxide)FDA Link
01/2012 - 04/2004
2Superoxide DismutaseIBA
08/2010 - 07/2002
2IronIBA
06/2010 - 10/2002
2Adenine Nucleotide Translocator 1IBA
04/2007 - 04/2005
1Pontocerebellar Hypoplasia Type 6IBA
07/2015
1Optic atrophy 6IBA
05/2015
1Vitamin A (Retinol)FDA LinkGeneric
03/2015
1Carrier Proteins (Binding Protein)IBA
03/2015
1CreatinineIBA
03/2015
1OxidoreductasesIBA
01/2015
1Alanine-tRNA LigaseIBA
01/2015
1corrigendumIBA
01/2015
1Thioctic Acid (Lipoic Acid)IBA
01/2015
1glycine cleavage systemIBA
01/2015
1hydroxide ionIBA
01/2015
1Asp Transfer RNAIBA
01/2015
1Chloride Channels (Chloride Channel)IBA
11/2014
1Acetylcholine (Acetylcholine Chloride)FDA Link
06/2014
1deoxyguanosine kinaseIBA
03/2014

Therapy/Procedure

2Erythrocyte Transfusion
09/2006 - 10/2002
1Thrombolytic Therapy
06/2015
1Cochlear Implants (Cochlear Implant)
03/2015
1Mechanical Ventilators (Ventilator)
06/2014
1Ligation
05/2014