Multi-Minicore Disease - MMD (RyR1)

Stanford University is collecting samples of blood, muscle and other tissues from people with neuromuscular disorders for use in research

posted on January 7, 2015 - 12:06pm
Ever wondered how someone with a neuromuscular disorder in his or her family might contribute to research efforts in this field?

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy

posted on January 26, 2011 - 2:39pm
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence. The study also is recruiting 30 adults with no neuromuscular disease. Results will be used to identify ways that counselors...

Investigators have identified the mechanism by which muscle abnormalities develop in mice with a central core disease-causing genetic mutation and a CCD-like disease

posted on December 23, 2010 - 10:58am
Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD) — researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects. Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a...

Thirty-eight new grants support research in ALS, central core disease, spinal muscular atrophy, muscular dystrophy, and other diseases in MDA's program   

posted on August 17, 2010 - 6:39pm
MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases.  MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the...