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Page 1
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L. Halbach N, et al. Among authors: apartopoulos f. Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354166 Free PMC article.
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group. Pini G, et al. Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430159
Cardiorespiratory challenges in Rett's syndrome.
Julu PO, Engerström IW, Hansen S, Apartopoulos F, Engerström B, Pini G, Delamont RS, Smeets EE. Julu PO, et al. Among authors: apartopoulos f. Lancet. 2008 Jun 14;371(9629):1981-3. doi: 10.1016/S0140-6736(08)60849-1. Lancet. 2008. PMID: 18555901 No abstract available.
Treating hypoxia in a feeble breather with Rett syndrome.
Julu PO, Witt Engerström I, Hansen S, Apartopoulos F, Engerström B; ESSRA group. Julu PO, et al. Among authors: apartopoulos f. Brain Dev. 2013 Mar;35(3):270-3. doi: 10.1016/j.braindev.2012.04.004. Epub 2012 May 20. Brain Dev. 2013. PMID: 22617859
Management of a severe forceful breather with Rett syndrome using carbogen.
Smeets EE, Julu PO, van Waardenburg D, Engerström IW, Hansen S, Apartopoulos F, Curfs LM, Schrander-Stumpel CT. Smeets EE, et al. Among authors: apartopoulos f. Brain Dev. 2006 Nov;28(10):625-32. doi: 10.1016/j.braindev.2006.04.010. Epub 2006 Jun 9. Brain Dev. 2006. PMID: 16765005