Janet E Sowden Selected Research

Synaptotagmin II

12/2015	Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
9/2014	Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

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Janet E Sowden Research Topics

Disease

1	Disease Progression 01/2022
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2020
1	Diabetic Neuropathies (Diabetic Neuropathy) 01/2020
1	Friedreich Ataxia (Friedreich's Ataxia) 01/2019
1	Foot Deformities (Foot Deformity) 12/2015
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 02/2015
1	Muscle Weakness 02/2015
1	Neuromuscular Junction Diseases 09/2014
1	Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton Syndrome) 09/2014
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 09/2014

Drug/Important Bio-Agent (IBA)

2	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2019
2	Synaptotagmin IIIBA 12/2015 - 09/2014
1	FructoseIBA 01/2020
1	Coenzyme A (CoA)IBA 01/2020
1	EnzymesIBA 01/2020
1	polyolIBA 01/2020
1	Sorbitol (Yal)FDA Link 01/2020
1	Acetylcholine (Acetylcholine Chloride)FDA Link 12/2015
1	Dynactin ComplexIBA 02/2015
1	Proteins (Proteins, Gene)FDA Link 02/2015
1	Dyneins (Dynein)IBA 02/2015
1	Aspartic Acid (Aspartate)FDA Link 09/2014
1	CalciumIBA 09/2014

Therapy/Procedure

1	Investigational Therapies (Experimental Therapy) 01/2019