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Serena Pagliarani Selected Research

Potassium aggravated myotonia

12/2021p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
5/2016Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

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Serena Pagliarani Research Topics

Disease

5Muscular Diseases (Myopathy)
01/2021 - 07/2012
4Glycogen Storage Disease Type III (Cori's Disease)
10/2018 - 03/2012
2Potassium aggravated myotonia
12/2021 - 05/2016
2Muscle Weakness
01/2018 - 07/2012
1Paralysis (Palsy)
12/2021
1Myotonic Disorders (Paramyotonia Congenita)
12/2021
1Neoplasms (Cancer)
12/2019
1Hypoglycemia (Reactive Hypoglycemia)
10/2018
1Hepatomegaly
10/2018
1Neuromuscular Manifestations
01/2018
1Spinal Muscular Atrophy (Progressive Muscular Atrophy)
06/2015
1Nervous System Diseases (Neurological Disorders)
06/2015
1Mitochondrial Myopathies (Mitochondrial Myopathy)
02/2013
1Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
02/2013
1Myotonia Congenita (Thomsen Disease)
07/2012
1Type 1C Limb-Girdle Muscular Dystrophy
02/2008
1Sarcoglycanopathies
02/2008
1type 2E Limb-girdle muscular dystrophy
02/2008
1type 2C Limb-girdle muscular dystrophy
02/2008
1type 2B Limb-girdle muscular dystrophy
02/2008
1Limb-girdle muscular dystrophy type 2F
02/2008
1Limb-girdle muscular dystrophy type 2A
02/2008
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
02/2008
1Type 2I Limb-Girdle Muscular Dystrophy
02/2008

Drug/Important Bio-Agent (IBA)

3Glycogen Debranching Enzyme System (Glycogen Debranching Enzyme)IBA
01/2018 - 03/2012
2RNA (Ribonucleic Acid)IBA
12/2019 - 06/2015
2GlycogenIBA
10/2018 - 03/2012
1Sodium Channels (Sodium Channel)IBA
12/2021
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2021
1Myosins (Myosin)IBA
01/2020
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
01/2020
1Glucose (Dextrose)FDA LinkGeneric
10/2018
1EnzymesIBA
01/2018
1polyglucosanIBA
01/2016
1glycogeninIBA
01/2016
1Mitochondrial DNA (mtDNA)IBA
02/2013
1Chloride Channels (Chloride Channel)IBA
07/2012
1DextrinsIBA
03/2012
1amylo-1,6-glucosidaseIBA
03/2012
1Proteins (Proteins, Gene)FDA Link
02/2008
1DysferlinIBA
02/2008
1Sarcoglycans (beta Sarcoglycan)IBA
02/2008

Therapy/Procedure

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