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Adams & Victors Principles of Neurology, Chp 37, pg 996, Ropper, A.H.,et al, 2014
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Brain 133:655-670, Leen,W.G., et al, 2010
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Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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Medicine 70:99-117, Gatti,R.A.,et al, 1991
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Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
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Medicine 66:389-396, Shuaid,A.,et al, 1987
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JAMA 247:1473-1477, Holm,V.A., 1982