Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 68

1.

The role of oxidative stress in Rett syndrome: an overview.

De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J.

Ann N Y Acad Sci. 2012 Jul;1259:121-35. doi: 10.1111/j.1749-6632.2012.06611.x. Review.

PMID:
22758644
2.

[Oxidative stress and Rett syndrome].

De Felice C, Signorini C, Leoncini S, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J.

Minerva Pediatr. 2014 Feb;66(1):41-62. Review. Italian.

PMID:
24608581
3.

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

Gadalla KK, Bailey ME, Cobb SR.

Biochem J. 2011 Oct 1;439(1):1-14. doi: 10.1042/BJ20110648. Review.

PMID:
21916843
4.

Oxidative stress in Rett syndrome: natural history, genotype, and variants.

Leoncini S, De Felice C, Signorini C, Pecorelli A, Durand T, Valacchi G, Ciccoli L, Hayek J.

Redox Rep. 2011;16(4):145-53. doi: 10.1179/1351000211Y.0000000004.

PMID:
21888765
5.

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

Amir RE, Zoghbi HY.

Am J Med Genet. 2000 Summer;97(2):147-52. Review.

PMID:
11180222
6.

Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches.

Ricceri L, De Filippis B, Laviola G.

Behav Pharmacol. 2008 Sep;19(5-6):501-17. doi: 10.1097/FBP.0b013e32830c3645. Review.

PMID:
18690105
7.

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM.

Am J Med Genet A. 2012 Feb;158A(2):340-50. doi: 10.1002/ajmg.a.34418. Epub 2011 Dec 21.

PMID:
22190343
8.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour M, Zoghbi HY.

Neuron. 2007 Nov 8;56(3):422-37. Review.

9.

MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, Schuette J, Innis J, Marino M, Philippart M, Narayanan V, Umansky R, Kronn D, Hoffman EP, Naidu S.

Neurology. 2001 Jun 12;56(11):1486-95.

PMID:
11402105
10.

[Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome].

Kondo I, Yamagata H.

No To Hattatsu. 2002 May;34(3):219-23. Japanese.

PMID:
12030010
11.
12.

Social impairments in Rett syndrome: characteristics and relationship with clinical severity.

Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S.

J Intellect Disabil Res. 2012 Mar;56(3):233-47. doi: 10.1111/j.1365-2788.2011.01404.x. Epub 2011 Mar 8.

PMID:
21385260
13.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, Hughes H, Hulten M, Ravine D, Sampson JR, Clarke A.

Hum Mol Genet. 2000 Apr 12;9(7):1119-29. Erratum in: Hum Mol Genet 2000 Jul 1;9(11):1717.

PMID:
10767337
14.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U.

Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.

PMID:
16932552
15.

Rett syndrome: from the gene to the disease.

Matijevic T, Knezevic J, Slavica M, Pavelic J.

Eur Neurol. 2009;61(1):3-10. doi: 10.1159/000165342. Epub 2008 Oct 24. Review.

16.

MeCP2 dysfunction in Rett syndrome and related disorders.

Moretti P, Zoghbi HY.

Curr Opin Genet Dev. 2006 Jun;16(3):276-81. Epub 2006 May 2. Review.

PMID:
16647848
17.

MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.

Kaufmann WE, Johnston MV, Blue ME.

Brain Dev. 2005 Nov;27 Suppl 1:S77-S87. Epub 2005 Sep 22. Review.

PMID:
16182491
18.

Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta SI, Yamanaka T, Wakamatsu N.

Hum Mutat. 2001 Sep;18(3):253.

PMID:
11524741
19.

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP.

Am J Med Genet A. 2003 Oct 15;122A(3):227-33.

PMID:
12966523
20.

MECP2 mutations in Serbian Rett syndrome patients.

Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.

Acta Neurol Scand. 2007 Dec;116(6):413-9.

PMID:
17986102

Supplemental Content

Support Center