Lorenzo Maggi Selected Research

Channelopathies

7/2023	Diagnostics in skeletal muscle channelopathies.
1/2021	Buprenorphine may be effective for treatment of paramyotonia congenita.
1/2021	Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.
1/2021	Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.
10/2016	Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.

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Lorenzo Maggi Research Topics

Disease

13	Myasthenia Gravis 01/2024 - 08/2008
12	Muscular Diseases (Myopathy) 11/2023 - 07/2015
7	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 01/2023 - 01/2020
6	Myotonia 01/2024 - 10/2015
6	Glycogen Storage Disease Type II (Pompe's Disease) 10/2023 - 01/2019
5	Channelopathies 07/2023 - 10/2016
5	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 01/2023 - 07/2010
5	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022 - 01/2016
5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 07/2015
5	Muscular Dystrophies (Muscular Dystrophy) 01/2018 - 01/2016
4	Disease Progression 06/2022 - 01/2020
4	Inclusion Body Myositis 10/2021 - 01/2018
3	Potassium aggravated myotonia 01/2024 - 01/2019
3	Myotonic Disorders (Paramyotonia Congenita) 07/2023 - 01/2019
3	Paralysis (Palsy) 07/2023 - 01/2021
3	Neuromuscular Diseases (Neuromuscular Disease) 05/2021 - 01/2020
3	Cardiomyopathies (Cardiomyopathy) 04/2021 - 03/2019
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 01/2018
2	COVID-19 10/2023 - 11/2020
2	Myotonia Congenita (Thomsen Disease) 07/2023 - 10/2016
2	Paresthesia (Dysesthesia) 11/2022 - 01/2018
2	Infections 05/2021 - 01/2018
2	Pain (Aches) 01/2021 - 05/2013
2	Laminopathies 01/2020 - 01/2018
2	Fibrosis (Cirrhosis) 12/2018 - 01/2016
2	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 01/2018 - 01/2018
2	Thymoma (Thymic Carcinoma) 11/2017 - 08/2008
2	Epstein-Barr Virus Infections 04/2016 - 01/2011
2	Inflammation (Inflammations) 04/2016 - 01/2011
2	Congenital Structural Myopathies (Centronuclear Myopathy) 02/2016 - 03/2013
2	Type 1D Limb-Girdle Muscular Dystrophy 01/2016 - 07/2015
1	Scoliosis 12/2023
1	Cough 12/2023
1	Mucopolysaccharidosis I (Hurler Syndrome) 10/2023
1	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 09/2023
1	Rare Diseases (Rare Disease) 01/2023
1	Myoclonus (Nocturnal Myoclonus) 09/2022
1	Nervous System Diseases (Neurological Disorders) 09/2022
1	Epilepsy (Aura) 09/2022
1	Muscle Cramp (Cramp) 08/2022
1	Abducens Nerve Diseases (Sixth Nerve Palsy) 03/2022
1	Respiratory Tract Infections (Respiratory Tract Infection) 01/2022
1	Minicore Myopathy with External Ophthalmoplegia 01/2022
1	Vomiting 01/2022
1	Central Core Myopathy (Central Core Disease) 01/2022
1	Hyperkalemic Periodic Paralysis 01/2022
1	Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic) 01/2022
1	Deglutition Disorders (Dysphagia) 10/2021
1	Muscular Atrophy (Muscle Atrophy) 05/2021
1	Pulmonary Embolism 05/2021

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 09/2023 - 01/2011
6	Biomarkers (Surrogate Marker)IBA 11/2023 - 01/2018
5	Toll-Like Receptors (Toll-Like Receptor)IBA 11/2023 - 04/2016
5	nusinersenIBA 06/2022 - 11/2020
4	MicroRNAs (MicroRNA)IBA 05/2021 - 12/2018
4	Phosphotransferases (Kinase)IBA 01/2018 - 08/2008
4	Cholinergic ReceptorsIBA 04/2016 - 08/2008
3	Sodium Channels (Sodium Channel)IBA 01/2024 - 10/2015
3	AmifampridineIBA 11/2022 - 01/2018
3	CytokinesIBA 01/2022 - 09/2008
3	AntibodiesIBA 10/2021 - 08/2008
3	AutoantibodiesIBA 10/2021 - 10/2011
3	RNA (Ribonucleic Acid)IBA 01/2021 - 01/2020
3	EnzymesIBA 01/2021 - 01/2017
3	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 01/2016
3	muskIBA 10/2013 - 08/2008
2	Voltage-Gated Sodium ChannelsIBA 01/2024 - 01/2019
2	human GAA protein (Myozyme)FDA Link 10/2023 - 01/2019
2	Ion Channels (Ion Channel)IBA 07/2023 - 01/2021
2	Protein AggregatesIBA 05/2023 - 01/2016
2	alpha-Glucosidases (Acid Maltase)IBA 04/2023 - 03/2021
2	GlycogenIBA 04/2023 - 01/2020
2	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2022 - 05/2021
2	Paclitaxel (Taxol)FDA LinkGeneric 05/2021 - 05/2009
2	Cholinesterase Inhibitors (Anticholinesterases)IBA 05/2021 - 07/2010
2	SteroidsIBA 05/2021 - 05/2013
2	bimagrumabIBA 01/2021 - 01/2019
2	GlucosidasesIBA 01/2021 - 01/2020
2	ConnectinIBA 03/2019 - 01/2018
2	Immunoglobulin G (IgG)IBA 01/2019 - 09/2008
2	LipidsIBA 12/2017 - 05/2017
2	Epstein-Barr virus encoded RNA 1IBA 11/2017 - 01/2011
2	Azathioprine (Imuran)FDA LinkGeneric 01/2017 - 01/2013
2	Dynamin IIIBA 02/2016 - 03/2013
2	Amino Acids FDA Link 01/2016 - 07/2015
1	glucose-mannose-glucoseIBA 01/2024
1	Interleukin-7 (Interleukin 7)IBA 11/2023
1	perlecanIBA 09/2023
1	N-desmethylstobadineIBA 07/2023
1	PlasticsIBA 09/2022
1	Creatine Kinase (Creatine Phosphokinase)IBA 08/2022
1	deflazacortIBA 01/2022
1	PotassiumIBA 01/2022
1	Prednisone (Sone)FDA LinkGeneric 01/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2022
1	Immunosuppressive Agents (Immunosuppressants)IBA 05/2021

Therapy/Procedure

8	Therapeutics 10/2023 - 05/2013
4	Enzyme Replacement Therapy 10/2023 - 01/2019
3	Activities of Daily Living (ADL) 01/2024 - 11/2017
1	Walkers 12/2023