Richard G Boles Selected Research

Isoleucine-tRNA Ligase

11/2014

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

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Richard G Boles Research Topics

Disease

10	Migraine Disorders (Migraine) 12/2020 - 08/2003
8	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 02/2005
8	Familial cyclic vomiting syndrome 01/2023 - 11/2004
4	Pain (Aches) 12/2020 - 03/2009
3	Neuromuscular Diseases (Neuromuscular Disease) 02/2005 - 08/2003
2	Irritable Bowel Syndrome (Syndrome, Irritable Bowel) 12/2020 - 07/2014
2	Hyperammonemia 12/2017 - 12/2006
2	Seizures (Absence Seizure) 12/2017 - 01/2017
2	Neurodevelopmental Disorders 01/2017 - 07/2014
2	Sudden Infant Death (SID) 07/2015 - 01/2006
2	Vomiting 08/2011 - 09/2008
2	Muscular Diseases (Myopathy) 08/2010 - 03/2009
1	Temporomandibular Joint Disorders (Temporomandibular Joint Disorder) 12/2020
1	Chronic Pain 12/2020
1	Vulvar Vestibulitis 12/2020
1	Fibromyalgia (Fibrositis) 12/2020
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2017
1	Reinfection 12/2017
1	Atrophy 12/2017
1	Muscle Hypotonia (Hypotonia) 12/2017
1	Microcephaly 12/2017
1	Memory Disorders (Memory Loss) 01/2017
1	Nervous System Diseases (Neurological Disorders) 01/2017
1	Autistic Disorder (Autism) 01/2017
1	Complex Regional Pain Syndromes 07/2015
1	Fatigue 07/2015
1	Abdominal Pain (Pain, Abdominal) 07/2015
1	Chronic Fatigue Syndrome (Myalgic Encephalomyelitis) 07/2015
1	Major Depressive Disorder (Major Depressive Disorders) 07/2015
1	Neoplasms (Cancer) 03/2015
1	Hyperglycemia 03/2015
1	Acidosis 03/2015
1	Cataract (Cataracts) 11/2014
1	Deafness (Deaf Mutism) 11/2014
1	Leigh Disease (Leigh's Disease) 11/2014
1	Peripheral Nervous System Diseases (PNS Diseases) 11/2014
1	Depressive Disorder (Melancholia) 05/2012
1	Mental Disorders (Mental Disorder) 05/2012
1	Panic Disorder (Panic Attack) 05/2012
1	Schizophrenia (Dementia Praecox) 05/2012
1	Anxiety Disorders (Anxiety Disorder) 05/2012
1	Hepatolenticular Degeneration (Wilson's Disease) 01/2012
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2012
1	Liver Failure 01/2012
1	Inflammation (Inflammations) 04/2011
1	Fatal Infantile Lactic Acidosis 02/2011
1	Hypoglycemia (Reactive Hypoglycemia) 08/2010
1	Mood Disorders (Mood Disorder) 02/2010
1	Cardiomyopathies (Cardiomyopathy) 03/2009
1	Gastrointestinal Diseases (Functional Gastrointestinal Disorders) 03/2009
1	Diarrhea 03/2009
1	VLCAD deficiency 03/2009
1	Constipation 03/2009
1	Papilledema 09/2008
1	Medically Unexplained Symptoms 02/2008
1	Hyperargininemia 12/2006
1	Hypothyroidism 02/2005
1	Migraine without Aura (Common Migraine) 11/2004
1	Autonomic Nervous System Diseases (Dysautonomia) 08/2003

Drug/Important Bio-Agent (IBA)

14	Mitochondrial DNA (mtDNA)IBA 12/2020 - 08/2003
2	Proteins (Proteins, Gene)FDA Link 03/2015 - 09/2008
2	Carnitine (L-Carnitine)FDA LinkGeneric 08/2011 - 08/2010
2	Amitriptyline (Elavil)FDA LinkGeneric 08/2011 - 01/2010
2	coenzyme Q10 (CoQ10)IBA 08/2011 - 01/2010
2	P-2 (P 2)IBA 09/2005 - 02/2005
1	CationsIBA 01/2023
1	Transaminases (Aminotransferases)IBA 12/2017
1	EndocannabinoidsIBA 01/2017
1	CB1 Cannabinoid Receptor (CB1 Receptor)IBA 01/2017
1	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 01/2017
1	Adenosine Triphosphatases (ATPase)IBA 07/2015
1	Fluorouracil (Carac)FDA LinkGeneric 03/2015
1	Vincristine (Oncovin)FDA LinkGeneric 03/2015
1	Cisplatin (Platino)FDA LinkGeneric 03/2015
1	Isoleucine-tRNA LigaseIBA 11/2014
1	Growth Hormone (Somatotropin)IBA 11/2014
1	ras ProteinsIBA 07/2014
1	CreatinineIBA 01/2012
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2012
1	CopperIBA 01/2012
1	Cyproheptadine (Periactin)FDA Link 08/2011
1	Serotonin (5 Hydroxytryptamine)IBA 04/2011
1	calcium dependent sulfhydryl proteaseIBA 08/2010
1	Systemic carnitine deficiencyIBA 08/2010
1	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 03/2009
1	DNA (Deoxyribonucleic Acid)IBA 02/2007
1	Progesterone FDA LinkGeneric 12/2006
1	ArginaseIBA 12/2006
1	Acetates (Acetic Acid Esters)FDA Link 12/2006
1	Glucose (Dextrose)FDA LinkGeneric 01/2006
1	AcidsIBA 02/2005

Therapy/Procedure

2	Therapeutics 08/2011 - 02/2008
1	Drug Therapy (Chemotherapy) 03/2015
1	Neoadjuvant Therapy 03/2015