Salvatore DiMauro Selected Research

Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)

10/2016	Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
11/2012	Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
3/2010	Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
3/2010	A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO).
4/2009	The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.
1/2007	Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript.
8/2004	Risk of developing a mitochondrial DNA deletion disorder.
4/2004	Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
9/2003	Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
9/2002	Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

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Salvatore DiMauro Research Topics

Disease

26	Muscular Diseases (Myopathy) 11/2018 - 09/2002
22	Mitochondrial Diseases (Mitochondrial Disease) 12/2020 - 12/2002
15	Mitochondrial Myopathies (Mitochondrial Myopathy) 11/2019 - 11/2002
11	MELAS Syndrome (Syndrome, MELAS) 01/2022 - 02/2002
10	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 10/2016 - 09/2002
7	Coenzyme Q10 Deficiency 01/2016 - 12/2002
7	Cytochrome-c Oxidase Deficiency 06/2015 - 02/2003
7	Glycogen Storage Disease (Glycogenosis) 12/2014 - 10/2003
6	Lactic Acidosis 11/2017 - 10/2004
6	Kearns-Sayre Syndrome 04/2012 - 09/2002
6	Myoglobinuria 04/2011 - 06/2004
6	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 08/2010 - 10/2004
5	Cerebellar Ataxia (Dysmetria) 01/2019 - 01/2003
5	Brain Diseases (Brain Disorder) 01/2013 - 12/2002
4	Leigh Disease (Leigh's Disease) 11/2019 - 12/2002
4	Stroke (Strokes) 11/2017 - 01/2003
4	Myalgia 04/2011 - 06/2004
4	Barth Syndrome 11/2006 - 05/2002
3	Adult Form Polyglucosan Body Disease 01/2021 - 04/2015
3	Methylmalonic acidemia 12/2018 - 04/2009
3	Phosphoglycerate Kinase 1 Deficiency 11/2018 - 03/2009
3	Liver Failure 10/2016 - 09/2002
3	Glycogen Storage Disease Type IV (Andersen's Disease) 12/2015 - 04/2004
3	Parkinsonian Disorders (Parkinsonism) 09/2014 - 11/2004
3	Glycogen Storage Disease Type V (McArdle's Disease) 10/2013 - 02/2002
3	Dimauro disease 10/2013 - 11/2006
3	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2012 - 09/2006
3	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 09/2011 - 05/2003
3	Recurrent Myoglobinuria 04/2011 - 08/2005
2	Mitochondrial encephalopathy 11/2017 - 02/2009
2	Infections 10/2017 - 09/2006
2	Inflammation (Inflammations) 10/2017 - 04/2012
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2016 - 05/2006
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 06/2015 - 03/2008
2	Glycogen Storage Disease Type II (Pompe's Disease) 10/2013 - 04/2006
2	Cardiomyopathies (Cardiomyopathy) 10/2013 - 12/2003
2	Cognitive Dysfunction 11/2012 - 03/2010
2	Peripheral Nervous System Diseases (PNS Diseases) 10/2012 - 09/2006
2	Hypercholesterolemia 10/2011 - 06/2004
2	Chanarin-Dorfman Syndrome 10/2010 - 06/2010
2	Ataxia (Dyssynergia) 03/2010 - 03/2008
2	Diabetes Mellitus 03/2010 - 01/2005
2	Muscle Cramp (Cramp) 03/2009 - 11/2006
2	Ophthalmoplegia (External Ophthalmoplegia) 11/2004 - 11/2002
1	Disease Progression 01/2022
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 11/2019
1	Virus Diseases (Viral Diseases) 01/2019
1	Respiratory Insufficiency (Respiratory Failure) 01/2018

Drug/Important Bio-Agent (IBA)

62	Mitochondrial DNA (mtDNA)IBA 12/2020 - 02/2002
14	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 12/2002
10	EnzymesIBA 01/2022 - 04/2004
10	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 06/2017 - 02/2003
10	coenzyme Q10 (CoQ10)IBA 01/2016 - 12/2002
9	Proteins (Proteins, Gene)FDA Link 10/2017 - 12/2002
7	LipidsIBA 10/2011 - 05/2002
6	GlycogenIBA 01/2021 - 05/2008
6	Phospholipids (Phosphatides)FDA LinkGeneric 08/2013 - 05/2002
5	Lactic Acid (Lactate)FDA LinkGeneric 01/2022 - 03/2008
5	Leu Transfer RNAIBA 01/2014 - 05/2003
5	NucleotidesIBA 04/2011 - 05/2003
4	polyglucosanIBA 01/2021 - 10/2013
4	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 01/2021 - 04/2004
4	UbiquinoneIBA 08/2012 - 12/2002
4	Transfer RNA (tRNA)IBA 04/2011 - 05/2003
4	Triglycerides (Triacylglycerol)IBA 10/2010 - 06/2003
4	Cardiolipins (Cardiolipin)IBA 11/2006 - 05/2002
3	AntioxidantsIBA 01/2019 - 10/2011
3	Methylmalonyl-CoA MutaseIBA 12/2018 - 04/2009
3	Cytochromes b (Cytochrome b)IBA 04/2011 - 05/2003
3	Phosphoglycerate Kinase (Kinase, Phosphoglycerate)IBA 05/2010 - 03/2009
3	Muscle Form Glycogen Phosphorylase (Myophosphorylase)IBA 03/2010 - 02/2002
3	Phosphoglycerate Mutase (Phosphoglyceromutase)IBA 03/2010 - 11/2006
3	Creatine Kinase (Creatine Phosphokinase)IBA 03/2010 - 08/2005
3	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 03/2009 - 06/2004
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 10/2016 - 01/2009
2	Glucose (Dextrose)FDA LinkGeneric 01/2016 - 10/2013
2	glycogeninIBA 01/2016 - 12/2014
2	Glycogen Synthase (Synthase I)IBA 12/2014 - 05/2008
2	Levodopa (L Dopa)FDA LinkGeneric 09/2014 - 05/2010
2	Biomarkers (Surrogate Marker)IBA 03/2014 - 08/2013
2	PhosphofructokinasesIBA 10/2013 - 03/2010
2	Succinate Dehydrogenase (Fumarate Reductase)IBA 01/2012 - 05/2003
2	electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase)IBA 10/2011 - 08/2007
2	Ile Transfer RNAIBA 04/2011 - 03/2010
2	Fatty Acids (Saturated Fatty Acids)IBA 04/2011 - 03/2010
2	Adenosine Triphosphate (ATP)IBA 03/2010 - 08/2009
2	Nonsense Codon (Nonsense Mutation)IBA 03/2009 - 02/2002
2	Polysaccharides (Glycans)IBA 06/2008 - 05/2008
2	Reactive Oxygen Species (Oxygen Radicals)IBA 06/2007 - 09/2006
2	phospholipid acyltransferasesIBA 12/2003 - 05/2002
2	Codon (Codons)IBA 05/2003 - 02/2002
1	N-acetylaspartate (N-acetyl aspartate)IBA 01/2022
1	Amino Acids FDA Link 12/2020
1	NADH DehydrogenaseIBA 11/2019
1	Poly I-CIBA 01/2019
1	fibroblast growth factor 21IBA 12/2018
1	CitrullineIBA 11/2017
1	MethyltransferasesIBA 11/2017

Therapy/Procedure

9	Therapeutics 01/2020 - 01/2003
3	Liver Transplantation 08/2013 - 09/2002