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Analysis of X-inactivation status in a Rett syndrome natural history study cohort.
Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Fang X, et al. Among authors: neul jl. Mol Genet Genomic Med. 2022 May;10(5):e1917. doi: 10.1002/mgg3.1917. Epub 2022 Mar 23. Mol Genet Genomic Med. 2022. PMID: 35318820 Free PMC article.
A study of the treatment of Rett syndrome with folate and betaine.
Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, Schultz RJ, Barrish JO, Neul JL, O'Brien WE, Smith EO. Glaze DG, et al. Among authors: neul jl. J Child Neurol. 2009 May;24(5):551-6. doi: 10.1177/0883073808327827. Epub 2009 Feb 18. J Child Neurol. 2009. PMID: 19225139 Free PMC article. Clinical Trial.
Profiling scoliosis in Rett syndrome.
Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG. Percy AK, et al. Among authors: neul jl. Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f. Pediatr Res. 2010. PMID: 20032810 Free PMC article.
Rett syndrome diagnostic criteria: lessons from the Natural History Study.
Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K. Percy AK, et al. Among authors: neul jl. Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154. Ann Neurol. 2010. PMID: 21104896 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.
Vitamin D deficiency is prevalent in girls and women with Rett syndrome.
Motil KJ, Barrish JO, Lane J, Geerts SP, Annese F, McNair L, Percy AK, Skinner SA, Neul JL, Glaze DG. Motil KJ, et al. Among authors: neul jl. J Pediatr Gastroenterol Nutr. 2011 Nov;53(5):569-74. doi: 10.1097/MPG.0b013e3182267a66. J Pediatr Gastroenterol Nutr. 2011. PMID: 21637127 Free PMC article.
Brief report: MECP2 mutations in people without Rett syndrome.
Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL. Suter B, et al. Among authors: neul jl. J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z. J Autism Dev Disord. 2014. PMID: 23921973 Free PMC article.
111 results