Chiara Fiorillo Selected Research

Guanosine Diphosphate Mannose (GDP Mannose)

1/2018	Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
1/2018	Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

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Chiara Fiorillo Research Topics

Disease

11	Muscular Diseases (Myopathy) 07/2022 - 09/2011
8	Muscular Dystrophies (Muscular Dystrophy) 01/2019 - 03/2010
4	Mitochondrial Diseases (Mitochondrial Disease) 07/2021 - 01/2015
4	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/2021 - 01/2011
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 04/2015
2	Muscle Weakness 07/2022 - 01/2011
2	Disease Progression 01/2022 - 01/2021
2	Lipodystrophy 01/2021 - 04/2015
2	Cardiomyopathies (Cardiomyopathy) 03/2019 - 03/2015
2	Myofibrillar Myopathy 03/2019 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2019 - 01/2018
2	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2019 - 01/2018
2	Atrophy 12/2018 - 06/2018
1	Fatigue 07/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	Central Core Myopathy (Central Core Disease) 01/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 07/2021
1	Motor Neuron Disease (Primary Lateral Sclerosis) 07/2021
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	Deafness (Deaf Mutism) 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2021
1	Genomic Instability 01/2021
1	Neuroferritinopathy 11/2019
1	Movement Disorders (Movement Disorder) 11/2019
1	Nemaline myopathy 5 10/2019
1	Sarcoglycanopathies 01/2019
1	Dermatomyositis (Dermatopolymyositis) 01/2019
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2018
1	Edema (Dropsy) 06/2018
1	SeSAME syndrome 06/2018
1	Myalgia 06/2018
1	Hypercapnia 03/2018
1	Hypoventilation 03/2018
1	Walker-Warburg Syndrome 01/2018
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 03/2017
1	Necrosis 01/2016
1	Cognitive Dysfunction 01/2016
1	Congenital myasthenic syndrome with episodic apnea 01/2016
1	Progeria (Hutchinson Gilford Syndrome) 04/2015
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 04/2015
1	Type 2B1 Charcot-Marie-Tooth disease 04/2015
1	Idiopathic dilation cardiomyopathy 04/2015
1	Laminopathies 04/2015
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 03/2015

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 03/2019 - 03/2010
4	Mitochondrial DNA (mtDNA)IBA 07/2021 - 03/2015
3	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 01/2016
3	Dystroglycans (Dystroglycan)IBA 01/2018 - 12/2016
2	Hypoglycemic Agents (Hypoglycemics)IBA 07/2022 - 01/2021
2	domagrozumabIBA 02/2021 - 01/2020
2	Pharmaceutical PreparationsIBA 12/2018 - 06/2013
2	Creatine Kinase (Creatine Phosphokinase)IBA 06/2018 - 03/2014
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 01/2018
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 01/2018
2	EnzymesIBA 01/2018 - 01/2011
1	SodiumIBA 07/2022
1	dapagliflozinIBA 07/2022
1	Metformin (Glucophage)FDA LinkGeneric 07/2022
1	Glucose (Dextrose)FDA LinkGeneric 07/2022
1	Sodium-Glucose Transporter 2 InhibitorsIBA 07/2022
1	SymportersIBA 07/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022
1	ProteomeIBA 07/2021
1	SphingolipidsIBA 07/2021
1	Immunoglobulins (Immunoglobulin)IBA 01/2021
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 01/2021
1	ElastinIBA 01/2021
1	SteroidsIBA 01/2021
1	SuspensionsIBA 01/2021
1	Intravenous Immunoglobulins (IVIG)FDA Link 01/2021
1	Myosins (Myosin)IBA 12/2020
1	IronIBA 11/2019
1	ApoferritinsIBA 11/2019
1	Troponin IIBA 10/2019
1	FilaminsIBA 03/2019
1	DesminIBA 01/2019
1	AlarminsIBA 01/2019
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2019
1	Interferon Type IIBA 01/2019
1	InterferonsIBA 01/2019
1	ectoATPaseIBA 01/2019
1	Adenosine Triphosphate (ATP)IBA 01/2019
1	CytokinesIBA 01/2019
1	TubulinIBA 12/2018
1	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA 06/2018
1	ConnectinIBA 01/2018
1	Biomarkers (Surrogate Marker)IBA 01/2017
1	dolichyl-phosphate beta-D-mannosyltransferaseIBA 12/2016
1	3- (3,5- dichlorophenyl)- 1- methyl- 2,5- pyrrolidinedione (DPMS)IBA 12/2016
1	Ligases (Synthetase)IBA 01/2016
1	Tripartite Motif ProteinsIBA 01/2016
1	Cholinergic Agents (Cholinergics)IBA 01/2016
1	choline transporterIBA 01/2016
1	UbiquitinIBA 01/2016
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2016
1	Lamin Type A (Lamin A)IBA 04/2015

Therapy/Procedure

2	Therapeutics 01/2021 - 03/2010
1	Self Administration (Administration, Self) 01/2021
1	Noninvasive Ventilation 03/2018