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Items: 1 to 20 of 100

1.

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.

Dev Med Child Neurol. 2012 May;54(5):451-6. doi: 10.1111/j.1469-8749.2012.04123.x. Epub 2012 Feb 21.

2.

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.

Res Dev Disabil. 2012 Nov-Dec;33(6):1749-56. doi: 10.1016/j.ridd.2012.04.012. Epub 2012 Jun 13.

3.

Developmental profile of speech-language and communicative functions in an individual with the preserved speech variant of Rett syndrome.

Marschik PB, Vollmann R, Bartl-Pokorny KD, Green VA, van der Meer L, Wolin T, Einspieler C.

Dev Neurorehabil. 2014 Aug;17(4):284-90. doi: 10.3109/17518423.2013.783139. Epub 2013 Jul 19.

PMID:
23870013
4.

Contributing to the early detection of Rett syndrome: the potential role of auditory Gestalt perception.

Marschik PB, Einspieler C, Sigafoos J.

Res Dev Disabil. 2012 Mar-Apr;33(2):461-6. doi: 10.1016/j.ridd.2011.10.007. Epub 2011 Nov 24.

5.

Early socio-communicative forms and functions in typical Rett syndrome.

Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C.

Res Dev Disabil. 2013 Oct;34(10):3133-8. doi: 10.1016/j.ridd.2013.06.040. Epub 2013 Jul 24.

PMID:
23891731
6.

Peculiarities in the gestural repertoire: an early marker for Rett syndrome?

Marschik PB, Sigafoos J, Kaufmann WE, Wolin T, Talisa VB, Bartl-Pokorny KD, Budimirovic DB, Vollmann R, Einspieler C.

Res Dev Disabil. 2012 Nov-Dec;33(6):1715-21. doi: 10.1016/j.ridd.2012.05.014. Epub 2012 Jun 13.

7.

Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development.

Marschik PB, Bartl-Pokorny KD, Tager-Flusberg H, Kaufmann WE, Pokorny F, Grossmann T, Windpassinger C, Petek E, Einspieler C.

Dev Neurorehabil. 2014 Feb;17(1):34-8. doi: 10.3109/17518423.2013.837537. Epub 2013 Oct 2.

PMID:
24088025
8.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H.

Am J Med Genet A. 2015 Feb;167A(2):354-62. doi: 10.1002/ajmg.a.36871. Epub 2014 Nov 26.

PMID:
25428820
9.

Preserved speech variant is allelic of classic Rett syndrome.

De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A.

Eur J Hum Genet. 2000 May;8(5):325-30.

10.

Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life.

Townend GS, Bartl-Pokorny KD, Sigafoos J, Curfs LM, Bölte S, Poustka L, Einspieler C, Marschik PB.

Res Dev Disabil. 2015 Aug-Sep;43-44:80-6. doi: 10.1016/j.ridd.2015.06.008. Epub 2015 Jul 7.

PMID:
26159884
11.

Case report: Retracing atypical development: a preserved speech variant of Rett syndrome.

Marschik PB, Einspieler C, Oberle A, Laccone F, Prechtl HF.

J Autism Dev Disord. 2009 Jun;39(6):958-61. doi: 10.1007/s10803-009-0703-x. Epub 2009 Feb 18.

12.

Development of language in Rett syndrome.

Uchino J, Suzuki M, Hoshino K, Nomura Y, Segawa M.

Brain Dev. 2001 Dec;23 Suppl 1:S233-5.

PMID:
11738880
13.

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

Nielsen JB, Ravn K, Schwartz M.

Brain Dev. 2001 Dec;23 Suppl 1:S230-2.

PMID:
11738879
14.

Vocalizations of infants with hearing loss compared with infants with normal hearing: Part I--phonetic development.

Moeller MP, Hoover B, Putman C, Arbataitis K, Bohnenkamp G, Peterson B, Wood S, Lewis D, Pittman A, Stelmachowicz P.

Ear Hear. 2007 Sep;28(5):605-27.

PMID:
17804976
15.

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. doi: 10.1016/j.braindev.2008.04.007. Epub 2008 Jun 17.

PMID:
18562141
16.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.

PMID:
21982064
17.

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.

Res Dev Disabil. 2013 Apr;34(4):1236-9. doi: 10.1016/j.ridd.2013.01.014. Epub 2013 Feb 9.

18.

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. doi: 10.1016/j.clinph.2010.01.003. Epub 2010 Feb 12.

PMID:
20153689
19.

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.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.

PMID:
12707946
20.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

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