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Andreina Bordoni Selected Research

Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)

11/2014Glycogen storage disease type III: A novel Agl knockout mouse model.

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Andreina Bordoni Research Topics

Disease

7Mitochondrial Myopathies (Mitochondrial Myopathy)
01/2020 - 10/2002
7Cytochrome-c Oxidase Deficiency
01/2018 - 01/2009
7Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
02/2013 - 08/2002
6Mitochondrial Diseases (Mitochondrial Disease)
12/2018 - 11/2002
5Muscular Diseases (Myopathy)
01/2016 - 03/2002
4Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2019 - 03/2006
4Leigh Disease (Leigh's Disease)
08/2011 - 05/2004
3Brain Diseases (Brain Disorder)
01/2020 - 06/2003
3Ophthalmoplegia (External Ophthalmoplegia)
03/2012 - 05/2010
2Glycogen Storage Disease Type III (Cori's Disease)
10/2018 - 11/2014
2Ataxia (Dyssynergia)
01/2018 - 12/2003
2MELAS Syndrome (Syndrome, MELAS)
01/2013 - 05/2005
2Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
11/2012 - 02/2008
2Disease Progression
09/2011 - 01/2006
2Muscular Dystrophies (Muscular Dystrophy)
03/2011 - 09/2006
1Achalasia Addisonianism Alacrimia syndrome
12/2019
1Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)
01/2019
1Tremor (Tremors)
01/2019
1Polyneuropathies (Polyneuropathy)
01/2019
1Cerebellar Ataxia (Dysmetria)
01/2019
1Hepatomegaly
10/2018
1Hypoglycemia (Reactive Hypoglycemia)
10/2018
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
01/2018
1Inherited Peripheral Neuropathy
10/2016
1Lactic Acidosis
07/2016
1Glycogen Storage Disease Type II (Pompe's Disease)
01/2014
1Rhabdomyolysis
11/2012
1Cognitive Dysfunction
11/2012
1Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)
04/2012
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
09/2011
1Cardiomyopathies (Cardiomyopathy)
06/2009
1MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers)
06/2009
1And Developmental Delay Hearing Loss With Congenital Cataract Mitochondrial Progressive Myopathy
05/2009
1Limb-girdle muscular dystrophy type 2A
02/2008
1type 2B Limb-girdle muscular dystrophy
02/2008
1Limb-girdle muscular dystrophy type 2F
02/2008
1Type 2I Limb-Girdle Muscular Dystrophy
02/2008
1Type 1C Limb-Girdle Muscular Dystrophy
02/2008
1type 2E Limb-girdle muscular dystrophy
02/2008
1type 2C Limb-girdle muscular dystrophy
02/2008
1Sarcoglycanopathies
02/2008
1Motor Neuron Disease (Primary Lateral Sclerosis)
01/2006
1Spinal muscular atrophy with respiratory distress 1
01/2006
1Stroke (Strokes)
05/2005
1Coma (Comas)
05/2004
1Retinitis Pigmentosa (Pigmentary Retinopathy)
12/2003
1Diabetes Mellitus
12/2003
1Peripheral Nervous System Diseases (PNS Diseases)
12/2003
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
11/2003

Drug/Important Bio-Agent (IBA)

21Mitochondrial DNA (mtDNA)IBA
01/2020 - 08/2002
6Proteins (Proteins, Gene)FDA Link
10/2016 - 02/2008
5Electron Transport Complex IV (Cytochrome c Oxidase)IBA
01/2018 - 01/2009
3DystrophinIBA
09/2011 - 09/2006
1Enoyl-CoA HydrataseIBA
01/2020
1Nuclear Pore Complex Proteins (Nucleoporins)IBA
12/2019
1AutoantibodiesIBA
01/2019
1RNA (Ribonucleic Acid)IBA
01/2019
1coenzyme Q10 (CoQ10)IBA
12/2018
1Glucose (Dextrose)FDA LinkGeneric
10/2018
1GlycogenIBA
10/2018
1AtaxinsIBA
01/2018
1Ataxin-1IBA
01/2018
1polyglutamineIBA
01/2018
1AS 8IBA
01/2018
1Oxygen (Dioxygen)IBA
07/2016
1Linezolid (Zyvox)FDA Link
07/2016
1polyglucosanIBA
01/2016
1glycogeninIBA
01/2016
1Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA
11/2014
1AcidsIBA
01/2014
1AnoctaminsIBA
11/2012
1GTP Phosphohydrolases (GTPases)IBA
04/2012
1Dynamins (Dynamin)IBA
04/2012
1Asn Transfer RNAIBA
03/2012
1EnzymesIBA
07/2010
1Leu Transfer RNAIBA
05/2010
1Transfer RNA (tRNA)IBA
05/2010
1Lys Transfer RNAIBA
06/2009
1DisulfidesIBA
05/2009
1Sarcoglycans (beta Sarcoglycan)IBA
02/2008
1DysferlinIBA
02/2008
1thymidine kinase 2IBA
03/2006
1deoxyguanosine kinaseIBA
03/2006
1Immunoglobulins (Immunoglobulin)IBA
01/2006
1Excitatory Amino AcidsIBA
01/2006
1Aldehyde DehydrogenaseIBA
01/2006
1Carrier Proteins (Binding Protein)IBA
01/2006
1ChromatinIBA
01/2006
1Complementary DNA (cDNA)IBA
05/2005
1OligonucleotidesIBA
05/2005
1Biological ProductsIBA
10/2002
1DNA Polymerase gammaIBA
08/2002
1Creatine Kinase (Creatine Phosphokinase)IBA
03/2002

Therapy/Procedure

1High-Protein Diet
10/2018
1Liver Transplantation
11/2012
1Transplantation
10/2008