Sabrina Lucchiari Selected Research

Paralysis (Palsy)

1/2024	Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
12/2021	p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.

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Sabrina Lucchiari Research Topics

Disease

5	Myotonia Congenita (Thomsen Disease) 12/2021 - 07/2012
4	Glycogen Storage Disease Type III (Cori's Disease) 10/2018 - 03/2012
3	Muscular Diseases (Myopathy) 01/2024 - 09/2004
2	Paralysis (Palsy) 01/2024 - 12/2021
2	Myotonia 01/2022 - 12/2021
2	Potassium aggravated myotonia 12/2021 - 05/2016
2	Muscle Weakness 01/2018 - 07/2012
2	type 2B Limb-girdle muscular dystrophy 02/2008 - 09/2004
1	Channelopathies 01/2022
1	Myotonic Dystrophy (Dystrophia Myotonica) 12/2021
1	Myotonic Disorders (Paramyotonia Congenita) 12/2021
1	Neoplasms (Cancer) 12/2019
1	Hepatomegaly 10/2018
1	Hypoglycemia (Reactive Hypoglycemia) 10/2018
1	Neuromuscular Manifestations 01/2018
1	Paresis (Hemiparesis) 06/2017
1	type 2E Limb-girdle muscular dystrophy 02/2008
1	type 2C Limb-girdle muscular dystrophy 02/2008
1	Limb-girdle muscular dystrophy type 2F 02/2008
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 02/2008
1	Sarcoglycanopathies 02/2008
1	Type 2I Limb-Girdle Muscular Dystrophy 02/2008
1	Type 1C Limb-Girdle Muscular Dystrophy 02/2008
1	Limb-girdle muscular dystrophy type 2A 02/2008
1	Miyoshi myopathy 09/2004
1	Distal Myopathies (Distal Muscular Dystrophy) 09/2004

Drug/Important Bio-Agent (IBA)

4	Chloride Channels (Chloride Channel)IBA 12/2021 - 07/2012
3	Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA 01/2018 - 03/2012
2	ChloridesIBA 01/2022 - 06/2017
2	Sodium Channels (Sodium Channel)IBA 01/2022 - 12/2021
2	Mexiletine (Mexitil)FDA LinkGeneric 12/2021 - 06/2017
2	GlycogenIBA 10/2018 - 03/2012
2	DysferlinIBA 02/2008 - 09/2004
1	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2024
1	SodiumIBA 01/2022
1	Protein Kinases (Protein Kinase)IBA 12/2021
1	N-desmethylstobadineIBA 12/2021
1	RNA (Ribonucleic Acid)IBA 12/2019
1	Glucose (Dextrose)FDA LinkGeneric 10/2018
1	CLC-1 channelIBA 01/2018
1	Amino Acids FDA Link 01/2018
1	EnzymesIBA 01/2018
1	Peptides (Polypeptides)IBA 01/2018
1	amylo-1,6-glucosidaseIBA 03/2012
1	DextrinsIBA 03/2012
1	Sarcoglycans (beta Sarcoglycan)IBA 02/2008
1	Proteins (Proteins, Gene)FDA Link 02/2008

Therapy/Procedure

1	High-Protein Diet 10/2018
1	Therapeutics 05/2016