Lisa G Riley Selected Research

glutaminyl-tRNA synthetase

2/2022

A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.

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Lisa G Riley Research Topics

Disease

5	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 01/2017
4	Muscular Diseases (Myopathy) 01/2022 - 07/2010
2	Seizures (Absence Seizure) 02/2022 - 01/2017
2	Lactic Acidosis 12/2013 - 07/2010
2	Myopathy with lactic acidosis and sideroblastic anemia 12/2013 - 07/2010
1	Mitochondrial encephalopathy 10/2022
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2022
1	Brain Diseases (Brain Disorder) 02/2022
1	Microcephaly 02/2022
1	Epilepsy (Aura) 02/2022
1	Atrophy 02/2022
1	Bone Marrow Failure Disorders 01/2022
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2019
1	Myofibrillar Myopathy 01/2019
1	Smith-Lemli-Opitz Syndrome 01/2018
1	Absent corpus callosum cataract immunodeficiency 01/2018
1	Syndactyly (Polysyndactyly) 01/2018
1	Dystonia (Limb Dystonia) 01/2017
1	Scoliosis 01/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2017
1	Leigh Disease (Leigh's Disease) 01/2017
1	Dystonic Disorders (Writer's Cramp) 12/2016
1	Optic Atrophy 12/2016
1	Renal Insufficiency (Renal Failure) 04/2015
1	Deafness (Deaf Mutism) 04/2015
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2015
1	Sideroblastic Anemia 07/2010

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 03/2022 - 01/2017
2	Lactic Acid (Lactate)FDA LinkGeneric 12/2019 - 01/2017
2	EnzymesIBA 01/2017 - 03/2015
2	Tyrosine-tRNA LigaseIBA 12/2013 - 07/2010
1	Cardiolipins (Cardiolipin)IBA 10/2022
1	cardiolipin synthetaseIBA 10/2022
1	ProteomeIBA 10/2022
1	GTP Phosphohydrolases (GTPases)IBA 03/2022
1	Carbamazepine (Tegretol)FDA LinkGeneric 02/2022
1	glutaminyl-tRNA synthetaseIBA 02/2022
1	Pharmaceutical PreparationsIBA 02/2022
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 02/2022
1	Growth Differentiation Factor 15IBA 01/2022
1	tert-butylserineIBA 01/2022
1	fibroblast growth factor 21IBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	Telomerase (Telomerase Reverse Transcriptase)IBA 01/2022
1	RNA Splice SitesIBA 01/2019
1	DesminIBA 01/2019
1	Autophagy-Related Protein 5IBA 01/2018
1	CholesterolIBA 01/2018
1	ManganeseIBA 01/2017
1	Fatty Acids (Saturated Fatty Acids)IBA 12/2016
1	ribosomal protein S7IBA 04/2015
1	Mitochondrial DNA (mtDNA)IBA 12/2013

Therapy/Procedure

1	Liver Transplantation 01/2019