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NEMJ 352:1112-20, Boyer, E.W. & Shannon, M., 2005
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Medicine 79:201-209, Mason,P.J. et al, 2000
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NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
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Brain 115:495-520, Pringle,C.E.,et al, 1992
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Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
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NEJM 390:358-366, Case 3-2024, 2024
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Neurol 99:305-310, McLaren, J.R.,et al, 2022
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UpToDate, Oct, Bodamer,O.A., 2022
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NEJM 383:1657-1662, Amato, A.A. & Ropper, A.H., 2020
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NEJM 377:1878-1886, Case 34-2017, 2017
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Neurol 87:e65-e67, Hirschtritt, M.E.,et al, 2016
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Ann Neurol 77:529-540, Lavault, S.,et al, 2015
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NEJM 371:2109-2113, Schuckit, M.A., 2014
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