Iain P Hargreaves Selected Research

Pontocerebellar Hypoplasia Type 6

7/2015

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

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Iain P Hargreaves Research Topics

Disease

22	Mitochondrial Diseases (Mitochondrial Disease) 04/2024 - 02/2002
6	Inflammation (Inflammations) 04/2024 - 10/2015
5	Ataxia (Dyssynergia) 11/2022 - 04/2007
3	Muscular Diseases (Myopathy) 03/2024 - 02/2002
3	Obesity 01/2022 - 09/2009
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017 - 11/2010
3	Cerebellar Ataxia (Dysmetria) 11/2014 - 01/2013
3	Parkinson Disease (Parkinson's Disease) 05/2014 - 12/2008
2	Fatigue 03/2024 - 03/2022
2	COVID-19 01/2023 - 01/2022
2	Infections 01/2023 - 01/2022
2	VLCAD deficiency 01/2023 - 01/2021
2	Atrophy 11/2022 - 05/2016
2	Fibromyalgia (Fibrositis) 11/2022 - 01/2021
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021 - 05/2009
2	Neuroblastoma 01/2021 - 04/2013
2	Metabolic Diseases (Metabolic Disease) 11/2020 - 07/2017
2	Fibrosis (Cirrhosis) 01/2019 - 02/2016
2	Body Weight (Weight, Body) 02/2016 - 10/2015
2	Insulin Resistance 10/2015 - 09/2009
2	Astrocytoma (Pilocytic Astrocytoma) 04/2013 - 11/2010
2	Cardiovascular Diseases (Cardiovascular Disease) 01/2013 - 05/2003
2	Coenzyme Q10 Deficiency 01/2013 - 05/2009
2	Seizures (Absence Seizure) 01/2013 - 05/2009
2	Myotoxicity 01/2009 - 01/2005
1	Pain (Aches) 03/2024
1	Hypercholesterolemia 03/2024
1	Huntington Disease (Huntington's Disease) 11/2022
1	Alexander Disease (Alexander's Disease) 11/2022
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 11/2022
1	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 11/2022
1	Antiphospholipid Syndrome (Antiphospholipid Antibody Syndrome) 11/2022
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 11/2022
1	Pulmonary Fibrosis (Fibrosing Alveolitis) 11/2022
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 09/2022
1	Lyme Disease (Disease, Lyme) 03/2022
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2022
1	Gestational Diabetes (Gestational Diabetes Mellitus) 01/2022
1	Glucose Intolerance 01/2022
1	Post-Acute COVID-19 Syndrome 01/2022
1	Maternal Obesity 01/2022
1	Nervous System Diseases (Neurological Disorders) 12/2021
1	Cognitive Dysfunction 01/2021
1	Poisoning 01/2021
1	Methylmalonic acidemia 11/2020
1	Glioblastoma (Glioblastoma Multiforme) 07/2019
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2017
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 05/2016
1	Intellectual Disability (Idiocy) 05/2016
1	Brain Diseases (Brain Disorder) 05/2016
1	Quadriplegia (Spastic Quadriplegia) 05/2016
1	Pontocerebellar Hypoplasia 05/2016
1	Hyperinsulinism (Hyperinsulinemia) 02/2016
1	Liver Diseases (Liver Disease) 02/2016

Drug/Important Bio-Agent (IBA)

23	coenzyme Q10 (CoQ10)IBA 04/2024 - 05/2003
12	AntioxidantsIBA 04/2024 - 01/2013
7	UbiquinoneIBA 10/2015 - 04/2007
6	EnzymesIBA 03/2024 - 06/2007
6	Proteins (Proteins, Gene)FDA Link 03/2021 - 04/2006
4	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 03/2024 - 02/2002
4	Fatty Acids (Saturated Fatty Acids)IBA 08/2023 - 01/2021
3	LipidsIBA 08/2023 - 03/2015
3	Insulin (Novolin)FDA Link 02/2016 - 09/2009
2	Anti-Inflammatory Agents (Anti-Inflammatories)IBA 04/2024 - 11/2022
2	Glutathione (Reduced Glutathione)IBA 01/2023 - 02/2002
2	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2023 - 01/2021
2	Glucose (Dextrose)FDA LinkGeneric 01/2022 - 05/2014
2	SugarsIBA 01/2022 - 09/2009
2	BezafibrateIBA 01/2021 - 11/2010
2	Interleukin-6 (Interleukin 6)IBA 02/2016 - 10/2015
1	Creatine Kinase (Creatine Phosphokinase)IBA 03/2024
1	pyrimidineIBA 08/2023
1	triheptanoinIBA 01/2023
1	Biomarkers (Surrogate Marker)IBA 01/2023
1	Therapeutic UsesIBA 11/2022
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 11/2022
1	Anti-Bacterial Agents (Antibiotics)IBA 03/2022
1	alpha-SynucleinIBA 01/2022
1	ProteomeIBA 01/2022
1	Metformin (Glucophage)FDA LinkGeneric 01/2022
1	VitaminsIBA 12/2021
1	DichlorvosIBA 01/2021
1	HerbicidesIBA 01/2021
1	Methyl Parathion (Dalf)IBA 01/2021
1	Parathion (Ethyl Parathion)IBA 01/2021
1	OrganophosphatesIBA 01/2021
1	Sulfhydryl Compounds (Thiols)IBA 01/2021
1	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 01/2021
1	Methylmalonic AcidIBA 11/2020
1	PropionatesIBA 11/2020
1	Gly Transfer RNAIBA 04/2020
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 07/2019
1	Cytochromes b (Cytochrome b)IBA 07/2019
1	Mitochondrial DNA (mtDNA)IBA 07/2019
1	Free RadicalsIBA 07/2017
1	Ataxin-2IBA 01/2017
1	Lactic Acid (Lactate)FDA LinkGeneric 05/2016
1	Selenoproteins (Selenoprotein)IBA 05/2016
1	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 02/2016

Therapy/Procedure

4	Therapeutics 03/2024 - 05/2003