Search Results - charles+thornton

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A method for treating a myotonic disorder

Background Myotonic disorders are a group of genetic diseases characterized by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability with muscle weakness,...

Published: 8/14/2023 | Inventor(s): John Lueck, Charles Thornton, Lily Cisco

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Category(s): Therapeutic

Platform of engineered tRNAs that target and suppress disease caused by nonsense mutations

Background Nonsense mutations, or premature termination codons (PTCs), make up 10-15% of all genetic diseases, affecting over 30 million people worldwide through 7,000 different diseases. Currently, there are very limited options for their therapeutic management. Some of the available agents have significant issues such as off-target toxicity and low...

Published: 8/14/2023 | Inventor(s): John Lueck, Joseph Porter, Charles Thornton, Wooree Ko

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Category(s): Research Tools

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 | Inventor(s): Richard Moxley, III, Al-Rabi Tawil, Charles Thornton, Michael Mcdermott

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Category(s): Copyright

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 | Inventor(s): Richard Moxley, III, Al-Rabi Tawil, Charles Thornton, Michael Mcdermott

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Category(s): Copyright

HSA LR Mice (Mouse Model of Myotonic Dystrophy)

ApplicationsThe invention offers a transgenic mouse model for myotonic dystrophy. This mouse model expresses expanded CUG repeats and develops myotonia and myopathy. This model can be utilized to examine interactions between the loss- and gain-of-function effects of the mutation and to investigate the mechanism for nuclear retention and toxicity of...

Published: 8/14/2023 | Inventor(s): Charles Thornton

Keywords(s): Disease Model, Mouse, Musculoskeletal, Research Tool

Category(s): Research Tools