News tagged with neuromuscular disorders


Scientists discovered genetic cause for rare disorder of motor neurones

(Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases.

Genetics created Dec 07, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

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 created Oct 09, 2012 | popularity not rated yet | comments 0 | with audio podcast

Study links Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junction

The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding ...

Neuroscience created Oct 30, 2011 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Stem cell model offers clues to cause of inherited ALS

An international team of scientists led by researchers at the University of California, San Diego School of Medicine have used induced pluripotent stem cells (iPSCs) derived from patients with amyotrophic ...

Genetics created Jun 21, 2011 | popularity not rated yet | comments 0 | with audio podcast

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 created Dec 19, 2012 | popularity 5 / 5 (1) | comments 0

ALS patients differ on treatment choices in later phases of disease

Two new studies analyzing treatment decisions in late-stage amyotrophic lateral sclerosis (ALS) patients shed light onto treatments aimed to extend the duration and quality of life in this progressively debilitating neuromuscular ...

Medical research created Apr 20, 2012 | popularity 5 / 5 (1) | comments 0

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 created Mar 27, 2012 | popularity not rated yet | comments 0