Pubblicazioni scientifiche indicizzate in PubMed: dalla 1 alla 20

1.

Rett syndrome: revised diagnostic criteria and nomenclature.

Jeffrey L. Neul, 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.

Ann Neurol. 2010 Dec;68(6):944-50.PMID: 21154482 [PubMed - in process]Related citations

2.

Autistic regression with and without EEG abnormalities followed by favourable outcome.

Zappella M.

Brain Dev. 2010 Oct;32(9):739-45. Epub 2010 Aug 12.PMID: 20708360 [PubMed - indexed for MEDLINE]Related citations

3.

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.

Clin Neurophysiol. 2010 May;121(5):652-7. Epub 2010 Feb 12.PMID: 20153689 [PubMed - indexed for MEDLINE]Related citations

4.

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A.

Brain Dev. 2010 Jan;32(1):17-24. Epub 2009 Apr 10.PMID: 19362436 [PubMed - indexed for MEDLINE]Related citations

5.

FOXG1 is responsible for the congenital variant of Rett syndrome.

Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.

Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.PMID: 18571142 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

6.

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.

Brain Dev. 2009 Mar;31(3):208-16. Epub 2008 Jun 17.PMID: 18562141 [PubMed - indexed for MEDLINE]Related citations

7.

Long-term effectiveness of radiofrequency ablation for hepatocellular carcinoma of 3.5 cm or less.

Salmi A, Turrini R, Lanzani G, Viviani G, Zappella A, Savio A, Pirali F.

Hepatogastroenterology. 2008 Jan-Feb;55(81):191-6.PMID: 18507105 [PubMed - indexed for MEDLINE]Related citations

8.

Sympathetic overactivity and plasma leptin levels in Rett syndrome.

Acampa M, Guideri F, Hayek J, Blardi P, De Lalla A, Zappella M, Auteri A.

Neurosci Lett. 2008 Feb 13;432(1):69-72. Epub 2007 Dec 23.PMID: 18226448 [PubMed - indexed for MEDLINE]Related citations

9.

Polydactyly with ectodermal defect, osteopenia, and mental delay.

Zannolli R, Buoni S, Viviano M, Macucci F, D'Ambrosio A, Livi W, Mazzei MA, Mazzei F, Sacco P, Volterrani L, Vonella G, Orsi A, Zappella M, Hayek J.

J Child Neurol. 2008 Jun;23(6):683-9. Epub 2008 Jan 8.PMID: 18182642 [PubMed - indexed for MEDLINE]Related citations

10.

MECP2 deletions and genotype-phenotype correlation in Rett syndrome.

Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.

Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.PMID: 17968969 [PubMed - indexed for MEDLINE]Related citations

11.

Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.

Mencarelli MA, Caselli R, Pescucci C, Hayek G, Zappella M, Renieri A, Mari F.

Am J Med Genet A. 2007 Apr 15;143A(8):858-65.PMID: 17352388 [PubMed - indexed for MEDLINE]Related citations

12.

Rett syndrome and plasma leptin levels.

Blardi P, de Lalla A, D'Ambrogio T, Zappella M, Cevenini G, Ceccatelli L, Auteri A, Hayek J.

J Pediatr. 2007 Jan;150(1):37-9.PMID: 17188610 [PubMed - indexed for MEDLINE]Related citations

13.

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.

Hum Mutat. 2007 Apr;28(4):329-35.PMID: 17186495 [PubMed - indexed for MEDLINE]Related citations

14.

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

Zannolli R, Buoni S, Macucci F, Scarinci R, Viviano M, Orsi A, de Aloe G, Fimiani M, Volterrani L, de Santi MM, Miracco C, Zappella M, Hayek J.

Brain Dev. 2007 Jul;29(6):373-6. Epub 2006 Dec 14.PMID: 17174051 [PubMed - indexed for MEDLINE]Related citations

15.

Neurocutaneous syndrome with mental delay, autism, blockage in intracellular vescicular trafficking and melanosome defects.

Buoni S, Zannolli R, de Santi M, Macucci F, Hayek J, Orsi A, Scarinci R, Buscalferri A, Cuccia A, Zappella M, Miracco C.

Eur J Neurol. 2006 Aug;13(8):842-51.PMID: 16879294 [PubMed - indexed for MEDLINE]Related citations

16.

Reversible PDD.

Zappella M.

J Autism Dev Disord. 2006 Aug;36(6):831-2. No abstract available.PMID: 16855877 [PubMed - indexed for MEDLINE]Related citations

17.

Autistic epileptiform regression.

Canitano R, Zappella M.

Funct Neurol. 2006 Apr-Jun;21(2):97-101.PMID: 16796825 [PubMed - indexed for MEDLINE]Related citations

18.

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

Zannolli R, Buoni S, Macucci F, Santi MM, Miracco F, Pierluigi M, Mogni M, Piomboni P, Massafra MR, Galluzzi P, Livi W, Cuccia A, Margollicci MA, Pucci L, Sacco P, Molinelli M, Burlina AB, Swift JA, Fimiani M, Zappella M, Miracco C.

Brain Dev. 2006 Apr;28(3):155-61. Epub 2005 Dec 20.PMID: 16368207 [PubMed - indexed for MEDLINE]Related citations

19.

Myoclonic encephalopathy in the CDKL5 gene mutation.

Buoni S, Zannolli R, Colamaria V, Macucci F, di Bartolo RM, Corbini L, Orsi A, Zappella M, Hayek J.

Clin Neurophysiol. 2006 Jan;117(1):223-7. Epub 2005 Dec 2.PMID: 16326141 [PubMed - indexed for MEDLINE]Related citations

20.

Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?

Guideri F, Acampa M, Hayek Y, Zappella M.

Pediatr Cardiol. 2005 Sep-Oct;26(5):574-7.PMID: 16235010 [PubMed - indexed for MEDLINE]Related citations