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Salvatore Dimauro Selected Research

1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)

1/2014Branching enzyme deficiency: expanding the clinical spectrum.
10/2013Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.
11/2011Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
10/2006Prenatal diagnosis of glycogen storage disease type IV.

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Salvatore Dimauro Research Topics

Disease

5Mitochondrial Diseases (Mitochondrial Disease)
03/2013 - 04/2004
4Muscular Diseases (Myopathy)
04/2015 - 10/2008
4MELAS Syndrome (Syndrome, MELAS)
02/2013 - 07/2008
3Muscle Weakness
08/2014 - 09/2012
3Glycogen Storage Disease (Glycogenosis)
10/2013 - 10/2007
3Glycogen Storage Disease Type IV (Andersen's Disease)
10/2013 - 10/2006
3Coenzyme Q10 Deficiency
03/2013 - 02/2006
3Lactic Acidosis
02/2013 - 04/2004
3Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2013 - 04/2004
2Atrophy
08/2014 - 02/2006
2Adult Form Polyglucosan Body Disease
01/2014 - 10/2013
2Epilepsy (Aura)
02/2013 - 12/2012
2Cytochrome-c Oxidase Deficiency
04/2012 - 12/2004
2Glycogen Storage Disease Type Ix
02/2010 - 10/2007
1Fibrosis (Cirrhosis)
08/2014
1Disease Progression
01/2014
1Multiple Sclerosis
01/2014
1Cardiomyopathies (Cardiomyopathy)
12/2013
1Starvation
10/2013
1Ataxia (Dyssynergia)
03/2013
1Renal Insufficiency (Renal Failure)
03/2013
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
02/2013
1Migraine Disorders (Migraine)
02/2013
1Parkinsonian Disorders (Parkinsonism)
02/2013
1Neutral Lipid Storage Disease with Myopathy
09/2012
1Cognitive Dysfunction
06/2012
1Myotoxicity
12/2008
1Rhabdomyolysis
12/2008
1Stroke (Strokes)
07/2008
1Mitochondrial encephalopathy
07/2008
1Hepatomegaly
05/2008
1Ichthyosis (Xeroderma)
05/2008
1Congenital Ichthyosiform Erythroderma
05/2008
1Chanarin-Dorfman Syndrome
05/2008
1Hypertrophy
10/2007
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
10/2007
1Ataxia Neuropathy Spectrum
07/2007
1Nephrotic Syndrome (Syndrome, Nephrotic)
12/2006
1Leigh Disease (Leigh's Disease)
12/2006
1Rare Diseases (Rare Disease)
11/2005
1Neurodegenerative Diseases (Neurodegenerative Disease)
04/2004

Drug/Important Bio-Agent (IBA)

5LipidsIBA
04/2015 - 05/2008
5EnzymesIBA
12/2008 - 12/2004
41,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA
01/2014 - 10/2006
4coenzyme Q10 (CoQ10)IBA
03/2013 - 02/2006
4Mitochondrial DNA (mtDNA)IBA
02/2013 - 04/2004
3polyglucosanIBA
01/2014 - 10/2013
3GlycogenIBA
10/2013 - 11/2005
2Electron Transport Complex IV (Cytochrome c Oxidase)IBA
08/2014 - 12/2004
2Creatine Kinase (Creatine Phosphokinase)IBA
09/2012 - 12/2008
1Ligases (Synthetase)IBA
12/2013
1UbiquitinIBA
12/2013
1Vinblastine (Vinblastine Sulfate)FDA Link
10/2013
1Glycogen Synthase (Synthase I)IBA
10/2013
1Small Interfering RNA (siRNA)IBA
10/2013
1Sirolimus (Rapamycin)FDA Link
10/2013
1Cytochromes b (Cytochrome b)IBA
02/2013
1Cysteine (L-Cysteine)FDA Link
02/2013
1Amino AcidsFDA Link
02/2013
1Arginine (L-Arginine)FDA Link
02/2013
1Lipase (Acid Lipase)FDA Link
09/2012
1Calbindin 1IBA
06/2012
1Calcium-Binding ProteinsIBA
06/2012
1CalbindinsIBA
06/2012
1CopperIBA
04/2012
1Hypolipidemic Agents (Antihyperlipidemics)IBA
04/2012
1BezafibrateIBA
04/2012
1Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA
02/2010
1UbiquinoneIBA
12/2008
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
12/2008
1Leu Transfer RNAIBA
07/2008
1Val Transfer RNAIBA
07/2008
1Triglycerides (Triacylglycerol)IBA
05/2008
1AMP-Activated Protein KinasesIBA
10/2007
1DNA Polymerase gammaIBA
07/2007
1decaprenyl pyrophosphate synthetaseIBA
12/2006
1TransferasesIBA
02/2006
1Proteins (Proteins, Gene)FDA Link
12/2004
1DNA (Deoxyribonucleic Acid)IBA
12/2004
1Reactive Oxygen Species (Oxygen Radicals)IBA
04/2004
1ThymidineIBA
04/2004

Therapy/Procedure

2Therapeutics
12/2009 - 04/2004
1Physical Therapy Modalities (Physical Therapy Technique)
04/2004