Zappella M - Search Results

1

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. Among authors: zappella m. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.

2

Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome.

Zappella M, Mari F, Renieri A. Zappella M, et al. Eur J Pediatr. 2005 Nov;164(11):710; author reply 711-2. doi: 10.1007/s00431-005-1717-9. Epub 2005 Jul 12. Eur J Pediatr. 2005. PMID: 16010564 No abstract available.

3

Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant.

Marschik PB, Pini G, Bartl-Pokorny KD, Duckworth M, Gugatschka M, Vollmann R, Zappella M, Einspieler C. Marschik PB, et al. Among authors: zappella m. Dev Med Child Neurol. 2012 May;54(5):451-6. doi: 10.1111/j.1469-8749.2012.04123.x. Epub 2012 Feb 21. Dev Med Child Neurol. 2012. PMID: 22348320 Free article.

4

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Zappella M, et al. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7. doi: 10.1002/ajmg.b.10070. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707946

5

EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.

Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, Casali S, Pucci B, Corbini L, Mari F, Renieri A, Zappella M, Hayek J. Buoni S, et al. Among authors: zappella m. Clin Neurophysiol. 2010 May;121(5):652-7. doi: 10.1016/j.clinph.2010.01.003. Epub 2010 Feb 12. Clin Neurophysiol. 2010. PMID: 20153689

6

Changing the perspective on early development of Rett syndrome.

Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV. Marschik PB, et al. Among authors: zappella m. Res Dev Disabil. 2013 Apr;34(4):1236-9. doi: 10.1016/j.ridd.2013.01.014. Epub 2013 Feb 9. Res Dev Disabil. 2013. PMID: 23400005 Free PMC article.

7

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

Renieri A, Mari F, Mencarelli MA, Scala E, Ariani F, Longo I, Meloni I, Cevenini G, Pini G, Hayek G, Zappella M. Renieri A, et al. Among authors: zappella m. Brain Dev. 2009 Mar;31(3):208-16. doi: 10.1016/j.braindev.2008.04.007. Epub 2008 Jun 17. Brain Dev. 2009. PMID: 18562141

8

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A. Ariani F, et al. Among authors: zappella m. Hum Mutat. 2004 Aug;24(2):172-7. doi: 10.1002/humu.20065. Hum Mutat. 2004. PMID: 15241799

9

Italian Rett database and biobank.

Sampieri K, Meloni I, Scala E, Ariani F, Caselli R, Pescucci C, Longo I, Artuso R, Bruttini M, Mencarelli MA, Speciale C, Causarano V, Hayek G, Zappella M, Renieri A, Mari F. Sampieri K, et al. Among authors: zappella m. Hum Mutat. 2007 Apr;28(4):329-35. doi: 10.1002/humu.20453. Hum Mutat. 2007. PMID: 17186495

10

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome.

Marschik PB, Kaufmann WE, Einspieler C, Bartl-Pokorny KD, Wolin T, Pini G, Budimirovic DB, Zappella M, Sigafoos J. Marschik PB, et al. Among authors: zappella m. Res Dev Disabil. 2012 Nov-Dec;33(6):1749-56. doi: 10.1016/j.ridd.2012.04.012. Epub 2012 Jun 13. Res Dev Disabil. 2012. PMID: 22699249 Free PMC article.

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