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Search Results - stephen+tapscott
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Treating Facioscapulohumeral Muscular Dystrophy (FSHD)
Title: Compounds for treating Facioscapulohumeral Muscular Dystrophy and method for discovering Category: Therapeutic and Research Tool NCS: Inventors: Francis M. Sverdrup, Stephen J. Tapscott Summary: Facioscapulohumeral Muscular Dystrophy (FSHD) is characterized by epigenetic changes resulting in the aberrant expression of the DUX4 gene in muscle....
Published: 6/14/2021
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Inventor(s):
Francis Sverdrup
,
Stephen Tapscott
Keywords(s):
Category(s):
Therapeutics
Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)
ApplicationsThis technology provides a DNA-based diagnostic method to determine the presence or the susceptibility of developing Facioscapulohumeral Dystrophy (FSHD) and also a method to treat FSHD.AdvantagesCurrently, the diagnostic test for FSHD1 requires pulse-field gel electrophoresis and Southern blotting to detect the contraction of the D4Z4 repeats,...
Published: 5/7/2024
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Inventor(s):
Al-Rabi Tawil
,
Stephen Tapscott
,
Linda Geng
,
Silvere Van Der Maarel
,
Lauren Snider
,
Richard Lemmers
Keywords(s):
Diagnostic
,
Musculoskeletal
Category(s):
Diagnostic