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Neurol 98:468-469, Zhao, B.,et al, 2022
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AJNR 41:1126-1130, Mabray, M.C.,et al, 2020
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UpToDate, May, Glisson,C.C., 2016
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Neurol 75:310-315, Matiello,M., et al, 2010
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Lancet 361:323-331, Behin,A.,et al, 2003
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Neurol 55:318-320, Yamakawa,K.,et al, 2000
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NEJM 338:1119-1126, Krivit,W.,et al, 1998
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Ann Neurol 38:817-824, Hutchinson,M.,et al, 1995
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NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
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Neurol 43:318-325, Wullner,U.,et al, 1993
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JNNP 55:898-901, Neumann,H.P.H.,et al, 1992
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AJNR 39:1657-1661, Codjia, P.,et al, 2018
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Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
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JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
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NEJM 370:911-920, Zhou, Q.,et al, 2014
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Neurol 78:1150-1156, Deiva,K.,et al, 2012
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Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
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Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008
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Muscle & Nerve 17:1129-1134994., Donofrio,P.D., 1994
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Lancet 339:645-646, Hjelle,B.,et al, 1992
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Brain 115:979-989, Harding,A.E.,et al, 1992
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NEJM 324:1471-1476, 1555-15641991., Black,P.McL., 1991
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Arch Neurol 48:1285-1293, Swaiman,K.F., 1991
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Neurol 41:1923-1927, Pulst,S.M.,et al, 1991
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Arch Int Med 150:2395-2399, Zoppi,M.,et al, 1990
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Arch Neurol 45:1118-1122, Uitti,R.J.,et al, 1988
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Ann Neurol 21:578-583, Dobyns,W.B.,et al, 1987
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Neurol 105:e213970, Westendfortp,W.F.,et al, 2025
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JAMA Neurol 81:83-84, Hua,L.,et al, 2024
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JAMA Neurol 81:192-193, Xie,N. & Sun, Q, 2024
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www.UptoDate.Com, March, Singer,R.J.,et al, 2024
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NEJM 387:e9, Kraft, A.W.,et al, 2022
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Neurol 95:136-141, Abkur, T.,et al, 2020
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Neurol 95:e2707-e2710, Lad, M. & Griffiths, T.D., 2020
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Neurol 92:101-103, Kang, M.J.,et al, 2019
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Neurol 92:e161-e167, Xiao, L.,et al, 2019
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Neurol 92:e1526-e1531, Hu, Y.,et al, 2019
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JAMA Neurol 76:621-622, Santoro, J.D. & Chitnis, T., 2019
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NEJM 381:164-172, Case 21-2019, 2019
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Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019