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Items: 10

1.

Profiling scoliosis in Rett syndrome.

Percy AK, Lee HS, Neul JL, Lane JB, Skinner SA, Geerts SP, Annese F, Graham J, McNair L, Motil KJ, Barrish JO, Glaze DG.

Pediatr Res. 2010 Apr;67(4):435-9. doi: 10.1203/PDR.0b013e3181d0187f.

2.

Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.

Filosa S, Pecorelli A, D'Esposito M, Valacchi G, Hajek J.

Free Radic Biol Med. 2015 Nov;88(Pt A):81-90. doi: 10.1016/j.freeradbiomed.2015.04.019. Review.

PMID:
25960047
3.

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.

Van den Veyver IB, Zoghbi HY.

Brain Dev. 2001 Dec;23 Suppl 1:S147-51. Review.

PMID:
11738862
4.

Rett syndrome: the complex nature of a monogenic disease.

Renieri A, Meloni I, Longo I, Ariani F, Mari F, Pescucci C, Cambi F.

J Mol Med (Berl). 2003 Jun;81(6):346-54. Review.

PMID:
12750821
5.

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. Review.

6.

The story of Rett syndrome: from clinic to neurobiology.

Chahrour M, Zoghbi HY.

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

7.

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH.

Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Review.

8.

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Shahbazian MD, Zoghbi HY.

Curr Opin Neurol. 2001 Apr;14(2):171-6. Review.

PMID:
11262731
9.

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
10.

Rett syndrome: a complex disorder with simple roots.

Lyst MJ, Bird A.

Nat Rev Genet. 2015 May;16(5):261-75. doi: 10.1038/nrg3897. Review.

PMID:
25732612
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