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Charlotte L Alston 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.

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Charlotte L Alston Research Topics

Disease

27Mitochondrial Diseases (Mitochondrial Disease)
01/2022 - 02/2010
6Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
12/2016 - 11/2010
6Cytochrome-c Oxidase Deficiency
11/2016 - 02/2013
4Ataxia (Dyssynergia)
07/2020 - 09/2012
4Leigh Disease (Leigh's Disease)
01/2020 - 06/2012
4Lactic Acidosis
01/2020 - 01/2015
4Cardiomyopathies (Cardiomyopathy)
01/2018 - 09/2012
3Deafness (Deaf Mutism)
05/2016 - 02/2013
2Cardiac Sudden Death (Sudden Cardiac Arrest)
12/2021 - 01/2016
2Brain Diseases (Brain Disorder)
01/2020 - 01/2018
2Neurologic Manifestations (Neurological Manifestations)
04/2018 - 11/2016
2Muscular Diseases (Myopathy)
01/2017 - 11/2010
2Mitochondrial Myopathies (Mitochondrial Myopathy)
10/2016 - 08/2012
2Muscle Hypotonia (Hypotonia)
05/2016 - 09/2012
2Respiratory Insufficiency (Respiratory Failure)
06/2014 - 12/2013
2Epilepsy (Aura)
01/2014 - 09/2013
1Virus Diseases (Viral Diseases)
12/2021
1Cognitive Dysfunction
01/2020
1Rhabdomyolysis
01/2020
1Hypoglycemia (Reactive Hypoglycemia)
01/2020
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2019
1Prostatic Neoplasms (Prostate Cancer)
10/2019
1Carcinogenesis
10/2019
1Seizures (Absence Seizure)
01/2018
1Lung Diseases (Lung Disease)
01/2018
1Inflammation (Inflammations)
10/2017
1Infections
10/2017
1Sideroblastic Anemia
01/2017
1Peripheral Nervous System Diseases (PNS Diseases)
12/2016
1Myofibrillar Myopathy
10/2016
1Movement Disorders (Movement Disorder)
01/2016
1Parkinsonian Disorders (Parkinsonism)
01/2016
1Dystonia (Limb Dystonia)
01/2016
1Paraganglioma (Paragangliomas)
08/2015
1Pontocerebellar Hypoplasia Type 6
07/2015
1Ataxia Neuropathy Spectrum
06/2015
1Dysarthria (Spastic Dysarthria)
06/2015
1Ophthalmoplegia (External Ophthalmoplegia)
06/2015
1Hypophosphatemia
03/2015
1Hyponatremia
03/2015
1Metabolic Diseases (Metabolic Disease)
12/2014
1Inborn Genetic Diseases (Disease, Hereditary)
12/2014
1Myotonic Dystrophy (Dystrophia Myotonica)
06/2014
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2014
1Myasthenia Gravis
06/2014
1Spastic Ataxia
05/2014
1Optic Atrophy
12/2013
1Drug Resistant Epilepsy
12/2013
1Fatigue
10/2013
1MELAS Syndrome (Syndrome, MELAS)
09/2013
1Lipoma (Lipomata)
02/2013
1Spastic Paraparesis
02/2013
1Paraparesis
02/2013
1Cataract (Cataracts)
02/2013
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
12/2011

Drug/Important Bio-Agent (IBA)

23Mitochondrial DNA (mtDNA)IBA
01/2020 - 12/2011
9Proteins (Proteins, Gene)FDA Link
12/2021 - 01/2016
4Electron Transport Complex IV (Cytochrome c Oxidase)IBA
12/2015 - 11/2010
3Transfer RNA (tRNA)IBA
10/2019 - 09/2013
3Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
01/2018 - 01/2014
3DNA (Deoxyribonucleic Acid)IBA
05/2015 - 11/2014
2RNA (Ribonucleic Acid)IBA
01/2022 - 10/2015
2Inorganic Pyrophosphatase (Pyrophosphatase, Inorganic)IBA
12/2021 - 01/2016
2Lactic Acid (Lactate)FDA LinkGeneric
01/2018 - 01/2017
2Mitochondrial Proteins (Mitochondrial Protein)IBA
12/2015 - 10/2015
2EnzymesIBA
07/2015 - 02/2010
2Glu Transfer RNAIBA
02/2013 - 11/2010
1coenzyme Q10 (CoQ10)IBA
07/2020
1LipidsIBA
07/2020
1RNase ZIBA
10/2019
1Mitochondrial RNAIBA
10/2019
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
01/2018
1DysferlinIBA
11/2016
1ATP Translocases Mitochondrial ADPIBA
10/2016
1DesminIBA
10/2016
1Protein AggregatesIBA
10/2016
1Ribonuclease P (RNase P)IBA
05/2016
1MethyltransferasesIBA
05/2016
1Amino AcidsFDA Link
08/2015
1CreatinineIBA
03/2015
1AlbuminsIBA
03/2015
1Retinol-Binding Proteins (Retinoid Binding Proteins)IBA
03/2015
1ProteomeIBA
03/2015
1Thioctic Acid (Lipoic Acid)IBA
01/2015
1Oxidoreductases (Dehydrogenase)IBA
01/2015
1glycine cleavage systemIBA
01/2015
1Lys Transfer RNAIBA
06/2014
1Cholinergic ReceptorsIBA
06/2014
1Phenylalanine-tRNA LigaseIBA
01/2014
1Phenylalanine (L-Phenylalanine)FDA Link
01/2014
1Phosphorus (Red Phosphorus)IBA
10/2013
1Leu Transfer RNAIBA
02/2013
1DNA-Directed DNA Polymerase (Polymerases, DNA)IBA
11/2012
1Succinic Acid (Succinate)IBA
09/2012

Therapy/Procedure

2Mechanical Ventilators (Ventilator)
10/2016 - 06/2014
1Renal Replacement Therapy (Therapies, Renal Replacement)
11/2016
1Critical Care (Surgical Intensive Care)
10/2015
1Ligation
05/2014
1Endurance Training
10/2013