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Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
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Medicine 70:99-117, Gatti,R.A.,et al, 1991
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J Child Neurol 7:270-280, Zori,R.T.,et al, 1992
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Neurol 100:206-212, Stamm,B.,et al, 2023
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Neurol 100:766-783, Manini,A.,&Pantoni,L., 2023
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UptoDate 2022 Jan, Darras, B.T., 2022
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Lancet 397:1577-1590, Scheltens, P.,et al, 2021
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BMJ 368:L7012, Fox, H.,et al, 2020
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Neurol 93:557-561, Urso, D.,et al, 2019
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Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
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AIAN 22:267-276, Batla, A. & Gaddipati, C., 2019
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Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019
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JAMA Neurol 74:245-246, Lopez Chiriboga, A.S.,et al, 2017
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Neurol 88:e185-e189, Vazquez do Campo, R.,et al, 2017
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AJNR 38:1467-1474, Bond, K.M.,et al, 2017
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AJNR 38:1850-1857, Manara, R.,et al, 2017
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UptoDate Dec 2017, Oksana Suchowersky, 2017
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Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
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Lancet 386:1672-1682, Bang, Jee.,et al, 2015
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JAMA 71:499-504, Thenganatt, M. & Jankovic, J., 2014
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Adams & Victors Principles of Neurology, Chp 39, pg 1063, Ropper, A.H.,et al, 2014
Efficacy and Safety of Everolimus for Subependymal Giant Cell Astrocytomas Associated with Tuberous Sclerosis Complex (EXIST-1): A Multicenter, Randomized, Placebo-Controlled Phase 3 Trial
Lancet 381:125-132, Franz, D.,et al, 2013
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Stroke 43:72-78, Bharatha, A.,et al, 2012
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Neurol 78:1150-1156, Deiva,K.,et al, 2012
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NEJM 367:1921-1929, Ligt, J.,et al, 2012
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Brain 133:655-670, Leen,W.G., et al, 2010
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The Neurologist 15:80-86, Williamson,J.,et al, 2009
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Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009
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Neurol 73:887-897, Ashwal,S.,et al, 2009
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Lancet 374:1627-1638, Levy,S.,et al, 2009
The Expanding Phenotype of GLUT1-Deficiency Syndrome
Brain & Dev 31:545-552, Brockmann,K., 2009
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Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009
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Lancet 372:657-658, Curatolo,P.,et al., 2008
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NEJM 355:1345-1356, Crino,P.B.,et al, 2006
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eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006
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Medicine 84:129-136, Lok,C.,et al, 2005
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Stroke 35:1790-1794, Cantu,C.,et al, 2004
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Lancet 361:2059-2067, Lonser,R.R.,et al, 2003
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Arch Neurol 58:191-195, Tan,E. &Ashizawa,T., 2001
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Lancet 357:1944, Blans,M.J.,et al, 2001
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Arch Neurol 57:662-665, Hyman,M.H.&Whittemore,V.H., 2000