Olimpia Musumeci Selected Research

Glycogen Storage Disease Type VII (Tarui's Disease)

1/2019	Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.
4/2012	Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

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Olimpia Musumeci Research Topics

Disease

11	Glycogen Storage Disease Type II (Pompe's Disease) 07/2021 - 06/2012
9	Muscular Diseases (Myopathy) 01/2022 - 11/2008
5	Myalgia 03/2021 - 03/2009
4	Vacuolar myopathy 01/2022 - 06/2005
4	Myoglobinuria 09/2021 - 03/2009
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2022 - 07/2015
3	Cardiomyopathies (Cardiomyopathy) 01/2022 - 05/2013
3	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2022 - 05/2015
3	Hypertension (High Blood Pressure) 06/2021 - 03/2019
3	Glycogen Storage Disease Type V (McArdle's Disease) 11/2020 - 02/2002
3	Rhabdomyolysis 01/2020 - 12/2014
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2019 - 03/2014
2	Muscle Weakness 01/2022 - 05/2013
2	Neuromuscular Diseases (Neuromuscular Disease) 07/2021 - 06/2020
2	VLCAD deficiency 01/2020 - 05/2015
2	Brain Diseases (Brain Disorder) 01/2020 - 12/2002
2	Seizures (Absence Seizure) 01/2020 - 05/2013
2	Myotonia 04/2019 - 04/2016
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 01/2019 - 05/2013
2	Lipoma (Lipomata) 01/2019 - 05/2013
2	Muscular Atrophy (Muscle Atrophy) 01/2019 - 01/2017
2	Glycogen Storage Disease (Glycogenosis) 01/2019 - 03/2009
2	Glycogen Storage Disease Type VII (Tarui's Disease) 01/2019 - 04/2012
2	Ichthyosis (Xeroderma) 12/2017 - 11/2008
2	Peripheral Nervous System Diseases (PNS Diseases) 04/2016 - 07/2015
2	Cognitive Dysfunction 07/2015 - 05/2013
2	Deafness (Deaf Mutism) 07/2015 - 04/2002
2	Disease Progression 06/2012 - 07/2005
2	Muscle Cramp (Cramp) 04/2012 - 03/2009
1	Paraplegia (Spastic Paraplegia) 04/2022
1	Deglutition Disorders (Dysphagia) 01/2022
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 01/2022
1	Cerebellar Ataxia (Dysmetria) 01/2022
1	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/2022
1	Myasthenia Gravis 12/2021
1	Intracranial Aneurysm (Cerebral Aneurysm) 06/2021
1	Aneurysm (Aneurysms) 06/2021
1	Cough 03/2021
1	Fever (Fevers) 03/2021
1	Myotoxicity 02/2021
1	Cardiovascular Diseases (Cardiovascular Disease) 02/2021
1	Hypercholesterolemia 02/2021
1	COVID-19 01/2021
1	Pain (Aches) 12/2020
1	Fatigue 12/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Movement Disorders (Movement Disorder) 01/2020
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Glut1 Deficiency Syndrome 01/2020
1	Epilepsy (Aura) 01/2020
1	Eclampsia 05/2019
1	Kidney Diseases (Kidney Disease) 05/2019
1	Pre-Eclampsia (Preeclampsia) 05/2019
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2019

Drug/Important Bio-Agent (IBA)

11	Mitochondrial DNA (mtDNA)IBA 01/2022 - 04/2002
6	GlycogenIBA 07/2019 - 06/2005
5	Biomarkers (Surrogate Marker)IBA 12/2020 - 01/2017
4	LipidsIBA 01/2022 - 11/2008
3	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 02/2021 - 03/2009
3	Creatine Kinase (Creatine Phosphokinase)IBA 12/2020 - 05/2013
3	alpha-Glucosidases (Acid Maltase)IBA 07/2019 - 11/2012
3	Nonsense Codon (Nonsense Mutation)IBA 04/2019 - 02/2002
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2022 - 01/2020
2	thymidine kinase 2IBA 01/2022 - 04/2019
2	human GAA protein (Myozyme)FDA Link 07/2021 - 01/2019
2	Glucose (Dextrose)FDA LinkGeneric 01/2020 - 01/2017
2	AcidsIBA 07/2019 - 11/2012
2	DNA (Deoxyribonucleic Acid)IBA 04/2019 - 01/2016
2	SolutionsIBA 01/2019 - 10/2014
2	PhosphofructokinasesIBA 01/2019 - 04/2012
2	Proteins (Proteins, Gene)FDA Link 01/2019 - 01/2017
2	NucleotidesIBA 03/2009 - 06/2005
1	sperm releasing substanceIBA 04/2022
1	Muscle Glycogen Storage Disease 0IBA 01/2022
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2022
1	Methotrexate (Mexate)FDA LinkGeneric 12/2021
1	Immunosuppressive Agents (Immunosuppressants)IBA 12/2021
1	SteroidsIBA 12/2021
1	Adrenal Cortex Hormones (Corticosteroids)IBA 12/2021
1	GlucosidasesIBA 06/2021
1	SmokeIBA 06/2021
1	Oxygen (Dioxygen)IBA 03/2021
1	Azithromycin (Zithromax)FDA LinkGeneric 01/2021
1	Low-Molecular-Weight Heparin (Heparin, Low Molecular Weight)IBA 01/2021
1	Anti-Bacterial Agents (Antibiotics)IBA 01/2021
1	GlucocorticoidsIBA 01/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 12/2020
1	fibroblast growth factor 21IBA 12/2020
1	Levetiracetam (Keppra)FDA LinkGeneric 01/2020
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020
1	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2020
1	Pharmaceutical PreparationsIBA 04/2019
1	NucleosidesIBA 04/2019
1	Antisense OligonucleotidesIBA 04/2019

Therapy/Procedure

9	Therapeutics 03/2021 - 03/2009
4	Enzyme Replacement Therapy 07/2021 - 06/2012
1	Enteral Nutrition (Feeding, Tube) 01/2022
1	Renal Dialysis (Hemodialysis) 09/2021
1	Drug Therapy (Chemotherapy) 07/2021
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 05/2019