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Page 1
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. Among authors: scusa mf. Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430159
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: scusa mf. 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.
Rett syndrome: a wide clinical and autonomic picture.
Pini G, Bigoni S, Congiu L, Romanelli AM, Scusa MF, Di Marco P, Benincasa A, Morescalchi P, Ferlini A, Bianchi F, Tropea D, Zappella M. Pini G, et al. Among authors: scusa mf. Orphanet J Rare Dis. 2016 Sep 29;11(1):132. doi: 10.1186/s13023-016-0499-7. Orphanet J Rare Dis. 2016. PMID: 27682832 Free PMC article.
IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients.
Pini G, Scusa MF, Congiu L, Benincasa A, Morescalchi P, Bottiglioni I, Di Marco P, Borelli P, Bonuccelli U, Della-Chiesa A, Prina-Mello A, Tropea D. Pini G, et al. Among authors: scusa mf. Autism Res Treat. 2012;2012:679801. doi: 10.1155/2012/679801. Epub 2012 Jun 13. Autism Res Treat. 2012. PMID: 22934177 Free PMC article.
Thyroid function in Rett syndrome.
Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G. Stagi S, et al. Among authors: scusa mf. Horm Res Paediatr. 2015;83(2):118-25. doi: 10.1159/000370066. Epub 2015 Jan 21. Horm Res Paediatr. 2015. PMID: 25614013 Clinical Trial.