News tagged with neuromuscular disease
Researchers design respirators for children with neuromuscular diseases
TU Delft is developing a special respirator for children with a neuromuscular disease. The Sporters in Actie foundation collected €100,000 for research on this breathing mask during the 'Greatest Golf Tournament ...
Diseases, Conditions, Syndromes
Apr 15, 2013 |
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Study offers new approach for spinal muscular atrophy
Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers ...
Neuroscience
Apr 09, 2013 |
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Drug delivery strategy eliminates myotonia symptoms in mice with myotonic dystrophy
By targeting the specific mutation that causes the hereditary neuromuscular disease myotonic dystrophy, it is possible to neutralize the mutant RNA toxicity and minimize or even eliminate the disabling symptoms ...
Diseases, Conditions, Syndromes
Feb 22, 2013 |
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Experimental gene therapy treatment for Duchenne muscular dystrophy offers hope for youngster
Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted—running and climbing trees are beyond ...
Genetics
Feb 07, 2013 |
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Researchers generate mutant mouse model useful in treatment of neuromuscular diseases
Researchers at the University of Granada have produced for the first time in the world mice lacking the coenzyme Q10, a rare mitochondrial disease prevailingly affecting children. The researchers needed three ...
Genetics
Jan 29, 2013 |
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Researchers describe a key mechanism in muscle regeneration
Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) have described a new selective target in muscle regeneration. This is the association of alpha-enolase protein and plasmin. The finding could be used to ...
Medical research
Dec 19, 2012 |
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New patient-centric solution for the management of chronic respiratory insufficiency diseases
Philips Respironics today announces the availability of the new bi-level ventilator BiPAP A401 for the management of chronic respiratory insufficiency, a condition secondary to diseases such as obesity hypoventilation ...
Diseases, Conditions, Syndromes
Nov 16, 2012 |
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Is housework a health hazard? Sheet-fitting palsy described
What do a tight, fitted bed sheet and a blood clot in the wrist have in common? Both are associated with a condition called sheet fitting palsy. True to its name, the palsy is reported in those who spend a long period of ...
Diseases, Conditions, Syndromes
Nov 08, 2012 |
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Scientists discover gene behind rare disorders
Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Genetics
Oct 09, 2012 |
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Reconnecting nerves to their target muscles
European researchers are working toward restoration of mobility in neuromuscular disease and trauma. Using miniature scaffolds to guide nerve regeneration, they are seeking to ensure proper functional connections ...
Medical research
Jul 31, 2012 |
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Researchers, with stem cells, advance understanding of spinal muscular atrophy
Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat ...
Medical research
Jun 20, 2012 |
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New genetically engineered mice aid understanding of incurable neuromuscular disease
A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people ...
Medical research
Apr 17, 2012 |
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Invasive treatment strategy may increase survival for patients with certain neuromuscular disorder
Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their heart's electrical ...
Cardiology
Mar 27, 2012 |
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Study finds how to correct human mitochondrial mutations
Researchers at the UCLA stem cell center and the departments of chemistry and biochemistry and pathology and laboratory medicine have identified, for the first time, a generic way to correct mutations in human mitochondrial ...
Medical research
Mar 12, 2012 |
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Unusual alliances enable movement
Some unusual alliances are necessary for you to wiggle your fingers, researchers report.
Genetics
Feb 08, 2012 |
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