Article
Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).
Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases - 1 Jun 2003
McDermott Christopher J, Roberts Dewi, Tomkins Janine, Bushby Kate M, Shaw Pamela J
Abstract excerpt
Mutations in both the spastin and paraplegin genes have been associated with upper motor neurone degeneration in hereditary spastic paraparesis. The aim of this study was to investigate if mutation in these genes is associated with upper motor neurone degeneration in primary lateral sclerosis (PLS) or selected motor neurone disease (MND) cases. DNA was extracted from whole blood and screened using single stranded...
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