Emma L Blakely Selected Research

Cytochrome-c Oxidase Deficiency

6/2019	A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
1/2018	Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
1/2017	POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
12/2015	Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
2/2013	The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.
7/2012	MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.
7/2010	Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.
3/2009	A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

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Emma L Blakely Research Topics

Disease

29	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 07/2002
12	Muscular Diseases (Myopathy) 01/2020 - 09/2007
11	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2020 - 09/2003
8	Cytochrome-c Oxidase Deficiency 06/2019 - 03/2009
7	Ataxia (Dyssynergia) 01/2019 - 02/2008
7	Deafness (Deaf Mutism) 01/2017 - 09/2004
6	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2019 - 10/2003
3	Ophthalmoplegia (External Ophthalmoplegia) 01/2022 - 07/2005
3	Kearns-Sayre Syndrome 11/2018 - 04/2012
3	MELAS Syndrome (Syndrome, MELAS) 09/2013 - 09/2004
2	Sensorineural Hearing Loss 01/2022 - 01/2015
2	Atrophy 01/2022 - 01/2012
2	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2019 - 01/2015
2	Cataract (Cataracts) 01/2017 - 01/2015
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2017 - 11/2010
2	Movement Disorders (Movement Disorder) 01/2016 - 10/2004
2	Inborn Genetic Diseases (Disease, Hereditary) 12/2014 - 03/2006
2	Respiratory Insufficiency (Respiratory Failure) 06/2014 - 12/2013
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 06/2014 - 03/2009
2	Epilepsy (Aura) 09/2013 - 08/2012
1	Status Epilepticus (Complex Partial Status Epilepticus) 01/2022
1	Stroke (Strokes) 01/2022
1	Uniparental Disomy 03/2021
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2021
1	Neoplasms (Cancer) 12/2020
1	Hodgkin Disease (Hodgkin's Disease) 12/2020
1	Late Onset Disorders 01/2020
1	Albinism 01/2020
1	Paresis (Hemiparesis) 01/2020
1	Seizures (Absence Seizure) 01/2019
1	Retinal Perforations 11/2018
1	Fibrosis (Cirrhosis) 11/2018
1	Acute Liver Failure (Fulminant Hepatic Failure) 10/2018
1	Cholestasis 10/2018
1	Neurologic Manifestations (Neurological Manifestations) 04/2018
1	Night Blindness (Nyctalopia) 01/2017
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2017
1	Parkinsonian Disorders (Parkinsonism) 01/2016
1	Dystonia (Limb Dystonia) 01/2016
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2016
1	Inclusion Body Myositis 01/2016
1	Paraganglioma (Paragangliomas) 08/2015
1	Cognitive Dysfunction 01/2015
1	Cerebellar Ataxia (Dysmetria) 01/2015
1	Metabolic Diseases (Metabolic Disease) 12/2014
1	Myotonic Dystrophy (Dystrophia Myotonica) 06/2014
1	Myasthenia Gravis 06/2014
1	Spastic Ataxia 05/2014
1	Disease Progression 02/2014
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 12/2013
1	Optic Nerve Diseases (Optic Neuropathy) 12/2013
1	Blindness (Hysterical Blindness) 12/2013
1	Muscular Dystrophies (Muscular Dystrophy) 06/2013
1	Lipoma (Lipomata) 02/2013
1	Retinal Degeneration 08/2012
1	Fatigue 08/2012
1	Leukoencephalopathies 07/2012
1	Inflammation (Inflammations) 04/2012
1	Psychotic Disorders (Schizoaffective Disorder) 11/2010
1	Dementia (Dementias) 11/2010
1	Brain Diseases (Brain Disorder) 09/2010
1	Hearing Loss (Hearing Impairment) 09/2010
1	Distal Myopathies (Distal Muscular Dystrophy) 09/2010
1	Cardiomyopathies (Cardiomyopathy) 09/2010
1	Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy) 02/2008

Drug/Important Bio-Agent (IBA)

48	Mitochondrial DNA (mtDNA)IBA 01/2022 - 07/2002
8	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2019 - 02/2008
7	DNA (Deoxyribonucleic Acid)IBA 05/2015 - 07/2010
4	Proteins (Proteins, Gene)FDA Link 03/2021 - 03/2006
4	Transfer RNA (tRNA)IBA 01/2019 - 10/2008
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2022 - 10/2004
3	Lys Transfer RNAIBA 01/2017 - 09/2007
2	Pro Transfer RNAIBA 01/2020 - 03/2009
2	NucleotidesIBA 01/2020 - 09/2003
2	Retinaldehyde (Retinal)IBA 11/2018 - 01/2017
2	Ala Transfer RNAIBA 12/2015 - 01/2008
2	Ser Transfer RNAIBA 08/2012 - 10/2008
2	EnzymesIBA 01/2012 - 07/2011
1	Biological ProductsIBA 03/2021
1	GMP ReductaseIBA 01/2020
1	Met Transfer RNAIBA 01/2019
1	TransferasesIBA 10/2018
1	Amino Acids FDA Link 08/2015
1	Peptide Hydrolases (Proteases)FDA Link 01/2015
1	Asp Transfer RNAIBA 01/2015
1	ProteomeIBA 06/2014
1	Cholinergic ReceptorsIBA 06/2014
1	SteroidsIBA 12/2013
1	DesminIBA 06/2013
1	Leu Transfer RNAIBA 02/2013
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 11/2012
1	Apoptosis Inducing FactorIBA 04/2012
1	Myelin-Associated GlycoproteinIBA 04/2012
1	coenzyme Q10 (CoQ10)IBA 02/2012
1	Phe Transfer RNAIBA 11/2010
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 08/2010

Therapy/Procedure

1	Mechanical Ventilators (Ventilator) 06/2014
1	Ligation 05/2014
1	Plasma Exchange 12/2013
1	Therapeutics 09/2010