Manuela Grazina Selected Research

Glutamate-tRNA Ligase

1/2017

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

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Manuela Grazina Research Topics

Disease

2	Frontotemporal Lobar Degeneration (Degeneration, Frontotemporal Lobar) 01/2022 - 01/2015
2	Wounds and Injuries (Trauma) 03/2017 - 01/2016
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2017 - 11/2006
2	Citrullinemia 01/2016 - 01/2013
1	Pain (Aches) 01/2019
1	Familial Amyloid Neuropathies (Familial Amyloid Polyneuropathy) 01/2018
1	Ophthalmoplegia (External Ophthalmoplegia) 01/2018
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2018
1	Critical Illness (Critically Ill) 07/2017
1	Epilepsy (Aura) 03/2017
1	Optic Nerve Diseases (Optic Neuropathy) 03/2017
1	Brain Diseases (Brain Disorder) 03/2017
1	Deafness (Deaf Mutism) 03/2017
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2017
1	Leukoencephalopathies 01/2017
1	Disease Progression 01/2017
1	Hyperargininemia 01/2016
1	Failure to Thrive 02/2013
1	Seizures (Absence Seizure) 02/2013
1	Nonketotic Hyperglycinemia 02/2013
1	Short Bowel Syndrome 01/2013
1	Ornithine Carbamoyltransferase Deficiency Disease 08/2012
1	Leigh Disease (Leigh's Disease) 08/2012
1	Liver Failure 04/2012
1	Acute Liver Failure (Fulminant Hepatic Failure) 04/2012
1	Fibrosis (Cirrhosis) 04/2012
1	Cholestasis 04/2012
1	Huntington Disease (Huntington's Disease) 04/2010
1	Autistic Disorder (Autism) 11/2006
1	Alzheimer Disease (Alzheimer's Disease) 01/2005
1	Frontotemporal Dementia (Semantic Dementia) 03/2004
1	Parkinson Disease (Parkinson's Disease) 01/2003

Drug/Important Bio-Agent (IBA)

10	Mitochondrial DNA (mtDNA)IBA 01/2018 - 01/2003
2	NucleotidesIBA 01/2022 - 01/2003
2	Glutamine (L-Glutamine)FDA Link 07/2017 - 01/2013
2	Biomarkers (Surrogate Marker)IBA 03/2017 - 11/2006
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2017 - 11/2006
2	Amino Acids FDA Link 01/2016 - 02/2013
1	5' Untranslated Regions (5' UTR)IBA 01/2022
1	3' Untranslated Regions (3' UTR)IBA 01/2022
1	Cytochrome P-450 CYP2D6 (CYP2D6)IBA 01/2019
1	Analgesics (Analgesic Drugs)IBA 01/2019
1	Transfer RNA (tRNA)IBA 01/2018
1	Prealbumin (Transthyretin)IBA 01/2018
1	Proteins (Proteins, Gene)FDA Link 03/2017
1	Glutamate-tRNA LigaseIBA 01/2017
1	Arginine (L-Arginine)FDA Link 01/2016
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 08/2012
1	Ferritins (Ferritin)IBA 04/2012
1	IronIBA 04/2012
1	StaurosporineIBA 04/2010
1	3-nitropropionic acidIBA 04/2010
1	aspartate-glutamate carrierIBA 11/2006
1	Pyruvic Acid (Pyruvate)IBA 11/2006
1	NADH DehydrogenaseIBA 01/2003

Therapy/Procedure

1	Cesarean Section (Caesarean Section) 01/2019
1	Bariatric Surgery 01/2013