Elena Pegoraro Selected Research

Sarcoglycanopathies

1/2020	New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
1/2018	MRI in sarcoglycanopathies: a large international cohort study.
4/2015	Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
11/2005	Decorin and biglycan expression is differentially altered in several muscular dystrophies.

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Elena Pegoraro Research Topics

Disease

19	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 11/2005
15	Muscular Diseases (Myopathy) 01/2022 - 06/2002
8	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022 - 12/2006
8	Muscular Dystrophies (Muscular Dystrophy) 06/2020 - 06/2002
8	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2020 - 11/2005
7	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 03/2014
6	Disease Progression 01/2022 - 02/2003
6	Muscle Weakness 06/2020 - 03/2006
6	X-Linked Bulbo-Spinal Atrophy 01/2020 - 01/2008
5	Neuromuscular Diseases (Neuromuscular Disease) 06/2020 - 11/2005
4	Minicore Myopathy with External Ophthalmoplegia 01/2022 - 01/2018
4	Sarcoglycanopathies 01/2020 - 11/2005
4	Glycogen Storage Disease Type II (Pompe's Disease) 01/2019 - 05/2009
3	Scleroatonic muscular dystrophy 12/2021 - 04/2016
3	Inclusion Body Myositis 10/2021 - 01/2019
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2020 - 04/2016
2	Migraine Disorders (Migraine) 10/2022 - 05/2013
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 06/2022 - 11/2020
2	Central Core Myopathy (Central Core Disease) 01/2022 - 12/2019
2	Bethlem myopathy 12/2021 - 04/2016
2	Hemorrhage 12/2021 - 01/2019
2	Polyneuropathies (Polyneuropathy) 01/2021 - 04/2016
2	Motor Neuron Disease (Primary Lateral Sclerosis) 01/2021 - 01/2008
2	Myotonic Dystrophy (Dystrophia Myotonica) 11/2020 - 03/2016
2	Myasthenia Gravis 06/2019 - 05/2011
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 01/2019 - 05/2013
2	Lipoma (Lipomata) 01/2019 - 05/2013
2	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 01/2018 - 05/2015
2	Rare Diseases (Rare Disease) 10/2016 - 09/2015
2	Cardiomyopathies (Cardiomyopathy) 01/2016 - 05/2013
2	Respiratory Insufficiency (Respiratory Failure) 10/2011 - 06/2011
1	Headache (Headaches) 10/2022
1	Paraplegia (Spastic Paraplegia) 04/2022
1	Frontotemporal Dementia (Semantic Dementia) 01/2022
1	Respiratory Tract Infections (Respiratory Tract Infection) 01/2022
1	Vomiting 01/2022
1	Deglutition Disorders (Dysphagia) 10/2021
1	Mucopolysaccharidoses 10/2021
1	Overweight 10/2021
1	Fabry Disease (Fabry's Disease) 10/2021
1	Diarrhea 01/2021
1	Paraneoplastic Polyneuropathy 01/2021
1	Exanthema (Rash) 01/2021
1	Channelopathies 01/2021
1	Atrioventricular Block 11/2020
1	Myotonia 11/2020
1	Bundle-Branch Block (Fascicular Block) 11/2020
1	Atrial Fibrillation 11/2020
1	Thymoma (Thymic Carcinoma) 01/2020
1	Limb-girdle muscular dystrophy type 2A 01/2020
1	Muscular Atrophy (Muscle Atrophy) 01/2020
1	Body Weight (Weight, Body) 01/2020
1	Atrophy 01/2020

Drug/Important Bio-Agent (IBA)

17	Proteins (Proteins, Gene)FDA Link 01/2021 - 11/2005
7	Mitochondrial DNA (mtDNA)IBA 01/2019 - 05/2003
6	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2017
5	CollagenIBA 12/2021 - 11/2005
5	AntibodiesIBA 10/2021 - 06/2002
5	DystrophinIBA 01/2021 - 10/2016
4	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022 - 05/2015
4	Androgen Receptors (Androgen Receptor)IBA 01/2020 - 01/2008
4	OsteopontinIBA 01/2017 - 07/2012
3	RNA (Ribonucleic Acid)IBA 01/2022 - 12/2002
3	Pharmaceutical PreparationsIBA 10/2021 - 11/2019
3	ConnectinIBA 01/2020 - 01/2018
3	polyglutamineIBA 01/2020 - 07/2013
3	GlucocorticoidsIBA 05/2019 - 10/2015
3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 09/2015
3	Sarcoglycans (beta Sarcoglycan)IBA 01/2018 - 11/2005
3	ClenbuterolIBA 01/2017 - 12/2006
2	nusinersenIBA 06/2022 - 11/2020
2	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2022 - 01/2017
2	bimagrumabIBA 01/2021 - 01/2019
2	CalciumIBA 01/2021 - 01/2020
2	Laminin (Merosin)IBA 06/2020 - 02/2003
2	muskIBA 01/2020 - 05/2011
2	Messenger RNA (mRNA)IBA 01/2020 - 11/2005
2	Cholinergic ReceptorsIBA 01/2018 - 05/2011
2	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2016 - 03/2006
2	AndrogensIBA 01/2016 - 07/2013
1	AcidsIBA 10/2022
1	Lactic Acid (Lactate)FDA LinkGeneric 10/2022
1	Analgesics (Analgesic Drugs)IBA 10/2022
1	sperm releasing substanceIBA 04/2022
1	Prednisone (Sone)FDA LinkGeneric 01/2022
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2022
1	deflazacortIBA 01/2022
1	AutoantibodiesIBA 10/2021
1	Biological ProductsIBA 01/2021
1	Microfilament Proteins (Actin Binding Proteins)IBA 01/2021
1	Nonsense Codon (Nonsense Mutation)IBA 01/2021
1	PeripherinsIBA 01/2021
1	Mexiletine (Mexitil)FDA LinkGeneric 11/2020
1	Sodium Channel BlockersIBA 11/2020
1	CalpainIBA 01/2020

Therapy/Procedure

7	Therapeutics 01/2022 - 04/2016
4	Enzyme Replacement Therapy 01/2019 - 05/2009
2	Tracheostomy 10/2011 - 06/2011
1	Implantable Defibrillators (Implantable Cardioverter-Defibrillator) 11/2020
1	Muscle Denervation 01/2020