Maurizio Moggio Selected Research

Dystonia (Limb Dystonia)

1/2021	A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
1/2014	Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.

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Maurizio Moggio Research Topics

Disease

17	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 09/2008
13	Muscular Diseases (Myopathy) 01/2022 - 03/2002
9	Cytochrome-c Oxidase Deficiency 01/2018 - 01/2009
8	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2018 - 08/2002
7	Muscular Dystrophies (Muscular Dystrophy) 06/2020 - 09/2005
7	Mitochondrial Myopathies (Mitochondrial Myopathy) 11/2018 - 11/2005
7	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 10/2007
5	Glycogen Storage Disease Type II (Pompe's Disease) 03/2021 - 06/2012
4	Disease Progression 10/2016 - 09/2011
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2016 - 10/2007
4	Ophthalmoplegia (External Ophthalmoplegia) 05/2013 - 05/2010
3	Frontotemporal Dementia (Semantic Dementia) 01/2022 - 05/2009
3	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022 - 02/2012
3	Cardiomyopathies (Cardiomyopathy) 01/2022 - 06/2009
3	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 01/2019 - 06/2009
3	Inflammation (Inflammations) 10/2017 - 04/2006
3	Leigh Disease (Leigh's Disease) 08/2011 - 06/2009
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2018
2	Dystonia (Limb Dystonia) 01/2021 - 01/2014
2	Muscle Weakness 06/2020 - 05/2013
2	Myalgia 04/2019 - 05/2013
2	Lipoma (Lipomata) 01/2019 - 05/2013
2	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 04/2016
2	Glycogen Storage Disease Type III (Cori's Disease) 10/2018 - 11/2014
2	Ataxia (Dyssynergia) 01/2018 - 05/2013
2	Infections 10/2017 - 10/2014
2	Rare Diseases (Rare Disease) 10/2016 - 09/2015
2	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 07/2015 - 02/2014
2	Nemaline Myopathies (Nemaline Myopathy) 06/2015 - 10/2007
2	Inclusion Body Myositis 04/2015 - 10/2007
2	MELAS Syndrome (Syndrome, MELAS) 03/2014 - 01/2013
2	Lactic Acidosis 03/2014 - 10/2012
2	Cognitive Dysfunction 05/2013 - 11/2012
2	Nonaka type Distal myopathy 05/2009 - 07/2003
2	Limb-girdle muscular dystrophy type 2A 02/2008 - 02/2007
2	Facioscapulohumeral Muscular Dystrophy 10/2007 - 02/2006
1	Type 2A Charcot-Marie-Tooth disease 01/2022
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2021
1	Neoplasms (Cancer) 12/2019
1	Sporadic Creutzfeldt-Jakob Disease 01/2019
1	Hypoglycemia (Reactive Hypoglycemia) 10/2018
1	Hepatomegaly 10/2018
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2018
1	Parkinsonian Disorders (Parkinsonism) 01/2018
1	Constipation 06/2017
1	Communicable Diseases (Infectious Diseases) 06/2017
1	Overnutrition 06/2017
1	Osteoporosis 06/2017
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2016
1	Fibrosis (Cirrhosis) 10/2016

Drug/Important Bio-Agent (IBA)

26	Mitochondrial DNA (mtDNA)IBA 04/2019 - 06/2003
11	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2005
6	DNA (Deoxyribonucleic Acid)IBA 04/2019 - 08/2014
6	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2018 - 01/2009
5	EnzymesIBA 08/2014 - 11/2005
3	Glucose (Dextrose)FDA LinkGeneric 10/2018 - 02/2014
3	GlycogenIBA 10/2018 - 07/2006
3	Biomarkers (Surrogate Marker)IBA 01/2017 - 01/2014
3	DystrophinIBA 10/2016 - 03/2011
3	Dystroglycans (Dystroglycan)IBA 09/2015 - 04/2006
3	Creatine Kinase (Creatine Phosphokinase)IBA 08/2014 - 03/2002
2	CalciumIBA 01/2022 - 02/2007
2	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2021 - 09/2014
2	RNA (Ribonucleic Acid)IBA 12/2019 - 01/2016
2	AntibodiesIBA 01/2019 - 12/2018
2	Transfer RNA (tRNA)IBA 01/2019 - 05/2010
2	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 12/2018 - 11/2005
2	Histones (Histone)IBA 12/2016 - 07/2009
2	Valosin Containing ProteinIBA 11/2016 - 05/2009
2	AcidsIBA 08/2014 - 01/2014
2	Lactic Acid (Lactate)FDA LinkGeneric 10/2012 - 01/2011
2	DysferlinIBA 02/2008 - 09/2005
1	Muscle Glycogen Storage Disease 0IBA 01/2022
1	DNA-Binding Proteins (DNA Binding Protein)IBA 01/2022
1	alpha-Glucosidases (Acid Maltase)IBA 03/2021
1	Biological ProductsIBA 01/2021
1	GoldIBA 01/2021
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2021
1	FrataxinIBA 01/2021
1	Laminin (Merosin)IBA 06/2020
1	human GAA protein (Myozyme)FDA Link 01/2019
1	Immunoglobulin G (IgG)IBA 01/2019
1	PrionsIBA 01/2019
1	Lysine (L-Lysine)FDA Link 01/2019
1	Oxidoreductases (Dehydrogenase)IBA 12/2018
1	Sirolimus (Rapamycin)FDA Link 11/2018
1	CalsequestrinIBA 10/2018
1	Ataxin-1IBA 01/2018
1	AtaxinsIBA 01/2018
1	polyglutamineIBA 01/2018
1	ConnectinIBA 01/2018
1	AS 8IBA 01/2018
1	2,2,2',4'-tetrachloroacetophenoneIBA 01/2018
1	givinostatIBA 10/2016
1	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 10/2016
1	Histone Deacetylases (Histone Deacetylase)IBA 10/2016
1	Histone Deacetylase InhibitorsIBA 10/2016

Therapy/Procedure

5	Therapeutics 01/2022 - 01/2010
3	Enzyme Replacement Therapy 03/2021 - 06/2012
1	High-Protein Diet 10/2018