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Helen K Young Selected Research

3 X-linked recessive Charcot-Marie-Tooth disease

1/2018Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
1/2016Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

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Helen K Young Research Topics

Disease

23 X-linked recessive Charcot-Marie-Tooth disease
01/2018 - 01/2016
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2018
1Muscular Dystrophies (Muscular Dystrophy)
07/2013
1Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
07/2013
1Cognitive Dysfunction
02/2008
1Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
02/2008

Drug/Important Bio-Agent (IBA)

1DNA (Deoxyribonucleic Acid)IBA
01/2016
1Guanosine Diphosphate Mannose (GDP Mannose)IBA
07/2013
1mannose 1-phosphate guanylyltransferaseIBA
07/2013
1Dystroglycans (Dystroglycan)IBA
07/2013
1Proteins (Proteins, Gene)FDA Link
02/2008
1DystrophinIBA
02/2008

Therapy/Procedure

1Therapeutics
01/2018