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NTNG1 mutations are a rare cause of Rett syndrome.
Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Among authors: christodoulou j. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.
Rett syndrome: randomized controlled trial of L-carnitine.
Ellaway C, Williams K, Leonard H, Higgins G, Wilcken B, Christodoulou J. Ellaway C, et al. Among authors: christodoulou j. J Child Neurol. 1999 Mar;14(3):162-7. doi: 10.1177/088307389901400306. J Child Neurol. 1999. PMID: 10190267 Clinical Trial.
Prolonged QT interval in Rett syndrome.
Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. Arch Dis Child. 1999 May;80(5):470-2. doi: 10.1136/adc.80.5.470. Arch Dis Child. 1999. PMID: 10208957 Free PMC article.
Guidelines for reporting clinical features in cases with MECP2 mutations.
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Kerr AM, et al. Among authors: christodoulou j. Brain Dev. 2001 Jul;23(4):208-11. doi: 10.1016/s0387-7604(01)00193-0. Brain Dev. 2001. PMID: 11376997
Medium-term open label trial of L-carnitine in Rett syndrome.
Ellaway CJ, Peat J, Williams K, Leonard H, Christodoulou J. Ellaway CJ, et al. Among authors: christodoulou j. Brain Dev. 2001 Dec;23 Suppl 1:S85-9. doi: 10.1016/s0387-7604(01)00346-1. Brain Dev. 2001. PMID: 11738848 Clinical Trial.
567 results