MeSH tree: C10.228.854.468
For the thousands of people globally affected by the disease myasthenia gravis (MG), everyday activities become a struggle, and in severe cases, the disease can be life-threatening.
Mar 21, 2024
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Ravindra Singh has spent years studying a gene that, when missing or mutated, causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children. His team's latest work will ...
Mar 13, 2024
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Spinal muscular atrophy, or SMA, is the leading genetic cause of infant death. Less than a decade ago, Cold Spring Harbor Laboratory (CSHL) Professor Adrian Krainer showed this brutal disease can be treated by tweaking a ...
Mar 6, 2024
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GoFundMe started as a crowdfunding site for underwriting "ideas and dreams," and, as GoFundMe's co-founders, Andrew Ballester and Brad Damphousse, once put it, "for life's important moments." In the early years, it funded ...
Feb 15, 2024
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In neuromuscular diseases, neurons and muscle cells stop communicating properly. Researchers led by Mina Gouti can now model this in 2D in a culture dish. Writing about their findings in Nature Communications, they say the ...
Dec 19, 2023
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Spinal muscular atrophy (SMA) is a devastating pediatric neuromuscular disorder caused by loss-of-function mutations in the SMN1 gene, which prevents the body from producing enough of the survival motor neuron (SMN) protein ...
Dec 7, 2023
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Modulating the activity of a kinase in motor neurons may help mitigate mitochondrial defects and other symptoms of spinal muscular atrophy, offering a new therapeutic avenue for the devastating disease, according to a Northwestern ...
Dec 5, 2023
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Dear Mayo Clinic: My husband and I want to expand our family and are trying to get pregnant with our first baby. I've read about family planning couples can do before conceiving and learned about carrier screening. We don't ...
Oct 19, 2023
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A small molecule previously shown to enhance strength in injured or old laboratory mice does so by restoring lost connections between nerves and muscle fibers, Stanford Medicine researchers have found.
Oct 12, 2023
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Fragile X syndrome is a genetic disorder caused by a mutation in a gene that lies at the tip of the X chromosome. It is linked to autism spectrum disorders. People with fragile X experience a range of symptoms that include ...
Jul 27, 2023
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