Chiara Fiorillo Selected Research

Creatine Kinase (Creatine Phosphokinase)

1/2023	Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.
1/2023	Statin-Induced Necrotizing Autoimmune Myopathy: Case Report of a Patient under Chronic Treatment.
6/2018	Clinical and molecular consequences of exon 78 deletion in DMD gene.
3/2014	Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Chiara Fiorillo Research Topics

Disease

16	Muscular Diseases (Myopathy) 10/2023 - 09/2011
9	Muscular Dystrophies (Muscular Dystrophy) 01/2023 - 03/2010
5	Muscle Weakness 12/2023 - 01/2011
5	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 10/2023 - 01/2011
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 01/2015
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 04/2015
2	Myalgia 01/2023 - 06/2018
2	Disease Progression 01/2022 - 01/2021
2	Lipodystrophy 01/2021 - 04/2015
2	Myofibrillar Myopathy 03/2019 - 01/2019
2	Cardiomyopathies (Cardiomyopathy) 03/2019 - 03/2015
2	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 03/2019 - 01/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2019 - 01/2018
2	Atrophy 12/2018 - 06/2018
1	Contracture 12/2023
1	X-Linked Emery-Dreifuss Muscular Dystrophy 12/2023
1	Wounds and Injuries (Trauma) 01/2023
1	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2023
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2023
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2023
1	Polyneuropathies (Polyneuropathy) 01/2023
1	Brain Diseases (Brain Disorder) 01/2023
1	Nervous System Diseases (Neurological Disorders) 01/2023
1	Rhabdomyolysis 01/2023
1	Arthrogryposis 01/2023
1	Neoplasms (Cancer) 01/2023
1	Nemaline Myopathies (Nemaline Myopathy) 12/2022
1	Diplopia (Double Vision) 10/2022
1	Neurologic Manifestations (Neurological Manifestations) 10/2022
1	Fatigue 07/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	Deglutition Disorders (Dysphagia) 01/2022
1	Speech Disorders (Cluttering) 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	Genomic Instability 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	Deafness (Deaf Mutism) 01/2021
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2021
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 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

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 01/2023 - 03/2010
4	Creatine Kinase (Creatine Phosphokinase)IBA 01/2023 - 03/2014
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	Lamin Type A (Lamin A)IBA 12/2023 - 04/2015
2	ConnectinIBA 01/2023 - 01/2018
2	Immunoglobulins (Immunoglobulin)IBA 01/2023 - 01/2021
2	Myosins (Myosin)IBA 12/2022 - 12/2020
2	ProteomeIBA 12/2022 - 07/2021
2	SteroidsIBA 10/2022 - 01/2021
2	Hypoglycemic Agents (Hypoglycemics)IBA 07/2022 - 01/2021
2	domagrozumabIBA 02/2021 - 01/2020
2	Guanosine Diphosphate Mannose (GDP Mannose)IBA 01/2018 - 01/2018
2	EnzymesIBA 01/2018 - 01/2011
2	mannose 1-phosphate guanylyltransferaseIBA 01/2018 - 01/2018
1	emerinIBA 12/2023
1	DystrophinIBA 10/2023
1	GlycogenIBA 10/2023
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2023
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2023
1	L-Iditol 2-Dehydrogenase (L Iditol 2 Dehydrogenase)IBA 01/2023
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2023
1	AutoantibodiesIBA 01/2023
1	Cerebrospinal Fluid ProteinsIBA 01/2023
1	AntimetabolitesIBA 01/2023
1	AntibodiesIBA 01/2023
1	Rituximab (Mabthera)FDA Link 01/2023
1	Thyrotropin Receptors (Thyrotropin Receptor)IBA 01/2023
1	Sodium-Glucose Transporter 2 InhibitorsIBA 07/2022
1	dapagliflozinIBA 07/2022
1	SymportersIBA 07/2022
1	Glucose (Dextrose)FDA LinkGeneric 07/2022
1	SodiumIBA 07/2022
1	Metformin (Glucophage)FDA LinkGeneric 07/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022
1	Selective Serotonin Reuptake Inhibitors (Serotonin Reuptake Inhibitors)IBA 01/2022
1	Therapeutic UsesIBA 01/2022
1	SphingolipidsIBA 07/2021
1	ElastinIBA 01/2021
1	Intravenous Immunoglobulins (IVIG)FDA Link 01/2021
1	DNA-Directed DNA Polymerase (Polymerases, DNA)IBA 01/2021
1	SuspensionsIBA 01/2021
1	IronIBA 11/2019
1	ApoferritinsIBA 11/2019
1	Troponin IIBA 10/2019
1	FilaminsIBA 03/2019
1	Sarcoglycans (beta Sarcoglycan)IBA 01/2019
1	DesminIBA 01/2019
1	ectoATPaseIBA 01/2019

Therapy/Procedure

4	Therapeutics 01/2023 - 03/2010
2	Noninvasive Ventilation 01/2022 - 03/2018
1	Telescopes 10/2022
1	Self Administration (Administration, Self) 01/2021