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1.

Reversible autism and intellectual disability in children.

Zappella, Michele.

Am J Med Genet C Semin Med Genet ; 160C(2): 111-7, 2012 May 15.

Article in English | MEDLINE | ID: mdl-22499541

2.

Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.

Pini, Giorgio; Bigoni, Stefania; Engerström, Ingegerd Witt; Calabrese, Olga; Felloni, Beatrice; Scusa, Maria Flora; Di Marco, Pietro; Borelli, Paolo; Bonuccelli, Ubaldo; Julu, Peter O O; Nielsen, Jytte Bieber; Morin, Bodil; Hansen, Stig; Gobbi, Giuseppe; Visconti, Paola; Pintaudi, Maria; Edvige, Veneselli; Romanelli, Anna; Bianchi, Fabrizio; Casarano, Manuela; Battini, Roberta; Cioni, Giovanni; Ariani, Francesca; Renieri, Alessandra; Benincasa, Alberto; Delamont, Robert S; Zappella, Michele.

Neuropediatrics ; 43(1): 37-43, 2012 Feb.

Article in English | MEDLINE | ID: mdl-22430159

3.

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

Marschik, Peter B; Pini, Giorgio; Bartl-Pokorny, Katrin D; Duckworth, Martin; Gugatschka, Markus; Vollmann, Ralf; Zappella, Michele; Einspieler, Christa.

Dev Med Child Neurol ; 54(5): 451-6, 2012 May.

Article in English | MEDLINE | ID: mdl-22348320

4.

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani, Francesca; Hayek, Giuseppe; Rondinella, Dalila; Artuso, Rosangela; Mencarelli, Maria Antonietta; Spanhol-Rosseto, Ariele; Pollazzon, Marzia; Buoni, Sabrina; Spiga, Ottavia; Ricciardi, Sara; Meloni, Ilaria; Longo, Ilaria; Mari, Francesca; Broccoli, Vania; Zappella, Michele; Renieri, Alessandra.

Am J Hum Genet ; 83(1): 89-93, 2008 Jul.

Article in English | MEDLINE | ID: mdl-18571142

5.

Investigation of modifier genes within copy number variations in Rett syndrome.

Artuso, Rosangela; Papa, Filomena T; Grillo, Elisa; Mucciolo, Mafalda; Yasui, Dag H; Dunaway, Keith W; Disciglio, Vittoria; Mencarelli, Maria A; Pollazzon, Marzia; Zappella, Michele; Hayek, Giuseppe; Mari, Francesca; Renieri, Alessandra; Lasalle, Janine M; Ariani, Francesca.

J Hum Genet ; 56(7): 508-15, 2011 Jul.

Article in English | MEDLINE | ID: mdl-21593744

6.

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul, Jeffrey L; Kaufmann, Walter E; Glaze, Daniel G; Christodoulou, John; Clarke, Angus J; Bahi-Buisson, Nadia; Leonard, Helen; Bailey, Mark E S; Schanen, N Carolyn; Zappella, Michele; Renieri, Alessandra; Huppke, Peter; Percy, Alan K.

Ann Neurol ; 68(6): 944-50, 2010 Dec.

Article in English | MEDLINE | ID: mdl-21154482

7.

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.

Currò, Aurora; Doddato, Gabriella; Bruttini, Mirella; Zollino, Marcella; Marangi, Giuseppe; Zappella, Michele; Renieri, Alessandra; Pinto, Anna Maria.

Eur J Med Genet ; 64(1): 104102, 2021 Jan.

Article in English | MEDLINE | ID: mdl-33220470

8.

Sympathetic overactivity and plasma leptin levels in Rett syndrome.

Acampa, Maurizio; Guideri, Francesca; Hayek, Jousef; Blardi, Patrizia; De Lalla, Arianna; Zappella, Michele; Auteri, Alberto.

Neurosci Lett ; 432(1): 69-72, 2008 Feb 13.

Article in English | MEDLINE | ID: mdl-18226448

9.

Polydactyly with ectodermal defect, osteopenia, and mental delay.

Zannolli, Raffaella; Buoni, Sabrina; Viviano, Massimo; Macucci, Francesca; D'Ambrosio, Alfonso; Livi, Walter; Mazzei, Maria Antonietta; Mazzei, Francesco; Sacco, Palmino; Volterrani, Luca; Vonella, Giuseppina; Orsi, Alessandra; Zappella, Michele; Hayek, Joseph.

J Child Neurol ; 23(6): 683-9, 2008 Jun.

Article in English | MEDLINE | ID: mdl-18182642

10.

Italian Rett database and biobank.

Sampieri, Katia; Meloni, Ilaria; Scala, Elisa; Ariani, Francesca; Caselli, Rossella; Pescucci, Chiara; Longo, Ilaria; Artuso, Rosangela; Bruttini, Mirella; Mencarelli, Maria Antonietta; Speciale, Caterina; Causarano, Vincenza; Hayek, Giuseppe; Zappella, Michele; Renieri, Alessandra; Mari, Francesca.

Hum Mutat ; 28(4): 329-35, 2007 Apr.

Article in English | MEDLINE | ID: mdl-17186495

11.

MECP2 deletions and genotype-phenotype correlation in Rett syndrome.

Scala, Elisa; Longo, Ilaria; Ottimo, Federica; Speciale, Caterina; Sampieri, Katia; Katzaki, Eleni; Artuso, Rosangela; Mencarelli, Maria Antonietta; D'Ambrogio, Tatiana; Vonella, Giuseppina; Zappella, Michele; Hayek, Giuseppe; Battaglia, Agatino; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca.

Am J Med Genet A ; 143A(23): 2775-84, 2007 Dec 01.

Article in English | MEDLINE | ID: mdl-17968969

12.

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.

Zannolli, Raffaella; Buoni, Sabrina; Macucci, Francesca; Scarinci, Renato; Viviano, Massimo; Orsi, Alessandra; de Aloe, Giovanni; Fimiani, Michele; Volterrani, Luca; de Santi, Maria M; Miracco, Clelia; Zappella, Michele; Hayek, Joseph.

Brain Dev ; 29(6): 373-6, 2007 Jul.

Article in English | MEDLINE | ID: mdl-17174051

13.

Myoclonic encephalopathy in the CDKL5 gene mutation.

Buoni, Sabrina; Zannolli, Raffaella; Colamaria, Vito; Macucci, Francesca; di Bartolo, Rosanna M; Corbini, Letizia; Orsi, Alessandra; Zappella, Michele; Hayek, Joseph.

Clin Neurophysiol ; 117(1): 223-7, 2006 Jan.

Article in English | MEDLINE | ID: mdl-16326141

14.

Global developmental delay, osteopenia and ectodermal defect: a new syndrome.

Zannolli, Raffaella; Buoni, Sabrina; Macucci, Francesca; Santi, Maria M de; Miracco, Flavia; Pierluigi, Mauro; Mogni, Massimo; Piomboni, Paola; Massafra, Maria R; Galluzzi, Paolo; Livi, Walter; Cuccia, Aldo; Margollicci, Maria A; Pucci, Lucia; Sacco, Palmino; Molinelli, Massimo; Burlina, Alberto B; Swift, James A; Fimiani, Michele; Zappella, Michele; Miracco, Clelia.

Brain Dev ; 28(3): 155-61, 2006 Apr.

Article in English | MEDLINE | ID: mdl-16368207

15.

Autistic epileptiform regression.

Canitano, Roberto; Zappella, Michele.

Funct Neurol ; 21(2): 97-101, 2006.

Article in English | MEDLINE | ID: mdl-16796825

16.

Epilepsy, electroencephalographic abnormalities, and regression in children with autism.

Canitano, Roberto; Luchetti, Anna; Zappella, Michele.

J Child Neurol ; 20(1): 27-31, 2005 Jan.

Article in English | MEDLINE | ID: mdl-15791919

17.

What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life--An exploratory study.

Zappella, Michele; Einspieler, Christa; Bartl-Pokorny, Katrin D; Krieber, Magdalena; Coleman, Mary; Bölte, Sven; Marschik, Peter B.

Early Hum Dev ; 91(10): 569-75, 2015 Oct.

Article in English | MEDLINE | ID: mdl-26246137

18.

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, Francesca; Mari, Francesca; Pescucci, Chiara; Longo, Ilaria; Bruttini, Mirella; Meloni, Ilaria; Hayek, Giuseppe; Rocchi, Raffaele; Zappella, Michele; Renieri, Alessandra.

Hum Mutat ; 24(2): 172-7, 2004 Aug.

Article in English | MEDLINE | ID: mdl-15241799

19.

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Longo, Ilaria; Russo, Luisa; Meloni, Ilaria; Ricci, Iolanda; Ariani, Francesca; Pescucci, Chiara; Giordano, Carmela Tiziana; Canitano, Roberto; Hayek, Giuseppe; Zappella, Michele; Neri, Giovanni; Renieri, Alessandra; Gurrieri, Fiorella.

Eur J Hum Genet ; 12(8): 682-5, 2004 Aug.

Article in English | MEDLINE | ID: mdl-15069458

20.

Analysis of ten candidate genes in autism by association and linkage.

Philippe, Anne; Guilloud-Bataille, Michel; Martinez, Maria; Gillberg, Christopher; Råstam, Maria; Sponheim, Eili; Coleman, Mary; Zappella, Michele; Aschauer, Harald; Penet, Christiane; Feingold, Josué; Brice, Alexis; Leboyer, Marion.

Am J Med Genet ; 114(2): 125-8, 2002 Mar 08.

Article in English | MEDLINE | ID: mdl-11857571

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