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Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
Annals of Neurology , 12/12/08
Clement E - Their results expand the spectrum of brain involvement associated with mutations in LARGE, POMGnT1, POMT1, and POMT2. Pontine clefts were visible in some dystroglycanopathy patients. Infratentorial structures were often affected in isolation, highlighting their susceptibility to involvement in these conditions.
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A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations
European Journal of Neurology, 12/18/09
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Neuropathic pain is associated with increased nodal persistent Na+ currents in human diabetic neuropathy
Journal of the Peripheral Nervous System, 12/18/09
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