Groundbreaking research shows that neurological health depends as much on signals sent by the body's large, leg muscles to the brain as it does on directives from the brain to the muscles. Published today in Frontiers in ...
May 23, 2018
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In the decade since the genome was sequenced in 2003, scientists and doctors have struggled to answer an all-consuming question: Which DNA mutations cause disease?
Dec 18, 2014
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U.S. regulators have approved the most expensive medicine ever, for a rare disorder that destroys a baby's muscle control and kills nearly all of those with the most common type of the disease within a couple of years.
May 24, 2019
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Researchers working at Karolinska Institutet in Sweden and University of Southern Denmark have managed to produce short synthetic DNA analogues – oligonucleotides – that bind directly to the gene that is mutated in Huntington's ...
Feb 20, 2017
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New research from the Advanced Gene and Cell Therapy Lab at Royal Holloway, University of London has used pioneering stem cell techniques to better understand why certain cells are more at risk of degenerating in spinal muscular ...
Jul 1, 2015
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New research by the Murdoch Children's Research Institute (MCRI) has shown that the combined affected pregnancy rate of cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA) is comparable to the ...
Nov 9, 2017
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Scientists in Cambridge and Berlin have used a form of gene therapy to increase levels of the so-called "cold shock protein" in the brains of mice, protecting them against the potentially devastating impact of prion disease.
Mar 24, 2023
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Impaired transport processes in neurons contribute to diseases such as amyotrophic lateral sclerosis (AML). Würzburg scientists have now identified key actors in these processes.
Mar 9, 2018
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Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.
Mar 22, 2023
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Researchers at Children's Hospital of Philadelphia (CHOP) successfully developed and validated a new outcome measure to monitor disease severity and progression in patients with impaired skeletal muscle function caused by ...
Sep 1, 2021
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Spinal muscular atrophy (SMA) is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle wasting (atrophy).
Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. Spinal muscular atrophy is the most common genetic cause of infant death.
Sometimes, the term spinal muscular atrophy is used to encompass other hereditary disorders that involve death of motor neurons in the anterior horn of spinal cord - see spinal muscular atrophies.
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