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Patient Information Forms for FSHD (Facioscapulohumeral Muscular Dystrophy), DM (Myotonic Dystrophy), and Unaffected Blood Relatives of Individuals with FSHD or DM
Brief Description: This technology is a physician checklist used to capture clinical and molecular diagnostic criteria related to Facioscapulohumeral Muscular Dystrophy (FSHD), Myotonic Dystrophy (DM), and unaffected blood relatives of individuals with FSHD or DM that is reported in patients’ medical records.
Published: 8/14/2023
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Inventor(s):
Richard Moxley, III
,
Al-Rabi Tawil
,
Charles Thornton
,
Michael Mcdermott
Keywords(s):
Category(s):
Copyright
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
Physician Checklists for FSHD (Facioscapulohumeral Muscular Dystrophy) and DM (Myotonic Dystrophy)
Brief Description: This technology is a physician checklist used to capture clinical and molecular diagnostic criteria related to Facioscapulohumeral Muscular Dystrophy (FSHD) and Myotonic Dystrophy (DM) that is reported in patients’ medical records.
Published: 5/23/2023
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Inventor(s):
Richard Moxley, III
,
Al-Rabi Tawil
,
Charles Thornton
,
Michael Mcdermott
Keywords(s):
Category(s):
Copyright
Data Forms for: Cellular and Molecular Pathophysiology (CAMP) of Facioscapulohumeral Muscular Dystrophy (FSHD) Study
Applications: The data forms capture clinical and genetic information on patients with Facioscapulohumeral Muscular Dystrophy (FSHD). Advantages: The captured data provides an assessment of clinical category in which they best fit as well as an assessment of their disease severity.
Published: 5/7/2024
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Inventor(s):
Al-Rabi Tawil
Keywords(s):
Category(s):
Informatics
,
Diagnostic
,
Research Tools
,
Copyright