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Douglass M Turnbull Selected Research

Glu Transfer RNA

2/2013Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.
11/2010A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.
4/2004Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

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Douglass M Turnbull Research Topics

Disease

29Mitochondrial Diseases (Mitochondrial Disease)
10/2016 - 07/2002
12Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
01/2015 - 09/2003
11Muscular Diseases (Myopathy)
01/2017 - 07/2002
7Mitochondrial Myopathies (Mitochondrial Myopathy)
12/2006 - 10/2002
6Neoplasms (Cancer)
01/2017 - 04/2002
6Cytochrome-c Oxidase Deficiency
02/2013 - 11/2002
5Inborn Genetic Diseases (Disease, Hereditary)
10/2016 - 02/2002
5Neurodegenerative Diseases (Neurodegenerative Disease)
03/2016 - 03/2004
5Deafness (Deaf Mutism)
09/2013 - 09/2004
4Ataxia (Dyssynergia)
01/2015 - 10/2002
4Parkinson Disease (Parkinson's Disease)
12/2011 - 05/2006
3Parkinsonian Disorders (Parkinsonism)
12/2013 - 04/2007
3MELAS Syndrome (Syndrome, MELAS)
09/2013 - 09/2004
2Respiratory Insufficiency (Respiratory Failure)
06/2014 - 12/2013
2MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2014 - 03/2009
2Premature Aging
04/2014 - 04/2007
2Nervous System Diseases (Neurological Disorders)
08/2010 - 07/2008
2Ophthalmoplegia (External Ophthalmoplegia)
02/2008 - 07/2005
2Lactic Acidosis
03/2006 - 10/2002
1Peripheral Nervous System Diseases (PNS Diseases)
05/2021
1Glioma (Gliomas)
01/2017
1Sideroblastic Anemia
01/2017
1Sarcopenia
12/2016
1Sleepiness
07/2015
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2015
1Myasthenia Gravis
06/2014
1Myotonic Dystrophy (Dystrophia Myotonica)
06/2014
1Spastic Ataxia
05/2014
1Fatigue
10/2013
1Epilepsy (Aura)
09/2013
1Lipoma (Lipomata)
02/2013
1Spastic Paraparesis
02/2013
1Cataract (Cataracts)
02/2013
1Paraparesis
02/2013
1Atrophy
01/2013
1Hyperlipidemias (Hyperlipidemia)
12/2012
1Brain Death (Brain Dead)
12/2012
1Heart Failure
07/2012
1Cardiomyopathies (Cardiomyopathy)
07/2012
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
12/2011
1Hypoxia (Hypoxemia)
01/2011
1Dementia (Dementias)
11/2010
1Psychotic Disorders (Schizoaffective Disorder)
11/2010
1Gout
12/2009
1Acute Kidney Injury (Acute Renal Failure)
12/2009
1Polyneuropathies (Polyneuropathy)
12/2009
1Mitochondrial cytopathy
10/2009
1Colonic Neoplasms (Colon Cancer)
06/2009
1Multiple Sclerosis
05/2009
1Disease Progression
05/2009
1Metaplasia
02/2008
1Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
02/2008
1Type 2 Diabetes Mellitus (MODY)
01/2008
1CADASIL
01/2008

Drug/Important Bio-Agent (IBA)

58Mitochondrial DNA (mtDNA)IBA
10/2016 - 02/2002
9Electron Transport Complex IV (Cytochrome c Oxidase)IBA
02/2013 - 11/2002
6Proteins (Proteins, Gene)FDA Link
01/2017 - 06/2005
6DNA (Deoxyribonucleic Acid)IBA
10/2016 - 07/2010
5Transfer RNA (tRNA)IBA
09/2013 - 02/2002
3EnzymesIBA
01/2017 - 07/2011
3Fatty Acids (Saturated Fatty Acids)IBA
01/2017 - 07/2002
3Lys Transfer RNAIBA
06/2014 - 09/2007
3Glu Transfer RNAIBA
02/2013 - 04/2004
2Pharmaceutical PreparationsIBA
01/2017 - 03/2016
2Lactic Acid (Lactate)FDA LinkGeneric
01/2017 - 10/2004
2Phe Transfer RNAIBA
11/2010 - 02/2004
2Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
08/2010 - 10/2002
2Ser Transfer RNAIBA
10/2008 - 07/2004
2Ile Transfer RNAIBA
03/2006 - 10/2002
2NucleotidesIBA
09/2003 - 10/2002
1NAD (NADH)IBA
05/2021
1Glucose (Dextrose)FDA LinkGeneric
01/2017
1etomoxirIBA
01/2017
1Mitochondrial Proteins (Mitochondrial Protein)IBA
10/2016
1Biological ProductsIBA
07/2015
1Peptide Hydrolases (Proteases)FDA Link
01/2015
1Cholinergic ReceptorsIBA
06/2014
1Phosphorus (Red Phosphorus)IBA
10/2013
1GadoliniumIBA
07/2013
1Leu Transfer RNAIBA
02/2013
1LipidsIBA
12/2012
1AntioxidantsIBA
12/2012
1NexusIBA
12/2012
1DNA-Directed DNA Polymerase (Polymerases, DNA)IBA
11/2012
1mitoquinoneIBA
01/2011
1Hydrogen Peroxide (Hydroperoxide)FDA LinkGeneric
01/2011
1Succinate Dehydrogenase (Fumarate Reductase)IBA
07/2010
1Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA
12/2009
1Pyridoxal KinaseIBA
12/2009
1Adenosine Triphosphatases (ATPase)IBA
05/2009
1PorinsIBA
05/2009
1Pro Transfer RNAIBA
03/2009
1Ala Transfer RNAIBA
01/2008
1AzidesIBA
01/2008

Therapy/Procedure

2Therapeutics
01/2014 - 12/2013
2Endurance Training
10/2013 - 12/2006
1Mechanical Ventilators (Ventilator)
06/2014
1Ligation
05/2014
1Artificial Respiration (Mechanical Ventilation)
12/2012
1Exercise Therapy (Therapy, Exercise)
01/2011