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Page 1
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.
Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, Munns C, Motil K, Tarquinio D, Shapiro JR, Brismar T, Ben-Zeev B, Bisgaard AM, Coppola G, Ellaway C, Freilinger M, Geerts S, Humphreys P, Jones M, Lane J, Larsson G, Lotan M, Percy A, Pineda M, Skinner S, Syhler B, Thompson S, Weiss B, Witt Engerström I, Downs J. Jefferson A, et al. Among authors: humphreys p. PLoS One. 2016 Feb 5;11(2):e0146824. doi: 10.1371/journal.pone.0146824. eCollection 2016. PLoS One. 2016. PMID: 26849438 Free PMC article.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.
Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D. Neul JL, et al. Among authors: humphreys p. Neurology. 2005 Jun 28;64(12):2151-2. doi: 10.1212/01.WNL.0000166032.58239.6C. Neurology. 2005. PMID: 15985595 No abstract available.
Measuring gross motor activities in Rett syndrome.
Humphreys P. Humphreys P. Dev Med Child Neurol. 2015 Dec;57(12):1086-7. doi: 10.1111/dmcn.12848. Epub 2015 Jul 22. Dev Med Child Neurol. 2015. PMID: 26201858 Free article. No abstract available.
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Samaco RC, et al. Among authors: humphreys p. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. doi: 10.1073/pnas.0912257106. Epub 2009 Dec 9. Proc Natl Acad Sci U S A. 2009. PMID: 20007372 Free PMC article.
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.
Kyriakopoulos P, McNiven V, Carter MT, Humphreys P, Dyment D, Fantaneanu TA. Kyriakopoulos P, et al. Among authors: humphreys p. Child Neurol Open. 2018 Aug 23;5:2329048X18787946. doi: 10.1177/2329048X18787946. eCollection 2018. Child Neurol Open. 2018. PMID: 30151416 Free PMC article. No abstract available.
270 results