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Rett Syndrome.
Mol Syndromol. 2012 Apr;2(3-5):113-127. doi: 10.1159/000337637. Epub 2012 Apr 16.
2
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Ment Retard Dev Disabil Res Rev. 2002;8(2):99-105. doi: 10.1002/mrdd.10026.
3
Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.
Free Radic Biol Med. 2015 Nov;88(Pt A):81-90. doi: 10.1016/j.freeradbiomed.2015.04.019. Epub 2015 May 8.
4
MeCP2 dysfunction in Rett syndrome and related disorders.
Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2.
6
MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits.
Genes Brain Behav. 2013 Oct;12(7):732-40. doi: 10.1111/gbb.12070. Epub 2013 Aug 26.
8
MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.
Degener Neurol Neuromuscul Dis. 2015 Oct 14;5:103-116. doi: 10.2147/DNND.S61269. eCollection 2015.
9
[Rett syndrome: clinical and molecular aspects].
Cas Lek Cesk. 2007;146(8):647-52.

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Novel CDKL5 targets identified in human iPSC-derived neurons.
Cell Mol Life Sci. 2024 Aug 13;81(1):347. doi: 10.1007/s00018-024-05389-8.
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X-Linked Epilepsies: A Narrative Review.
Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110.
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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Orphanet J Rare Dis. 2023 Sep 4;18(1):269. doi: 10.1186/s13023-023-02891-3.
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Preliminary assessment of the reliability and validity of infrared skin temperature measurements in Rett syndrome.
J Intellect Disabil Res. 2023 Apr;67(4):387-395. doi: 10.1111/jir.13010. Epub 2023 Feb 6.
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Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.
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Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
Am J Med Genet A. 2012 Feb;158A(2):340-50. doi: 10.1002/ajmg.a.34418. Epub 2011 Dec 21.
2
Trends in the diagnosis of Rett syndrome in Australia.
Pediatr Res. 2011 Sep;70(3):313-9. doi: 10.1203/PDR.0b013e3182242461.
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Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome.
Auton Neurosci. 2011 Apr 26;161(1-2):55-62. doi: 10.1016/j.autneu.2011.01.006. Epub 2011 Feb 12.
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Rett syndrome: revised diagnostic criteria and nomenclature.
Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.
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From stem cells to neural networks: recent advances and perspectives for neurodevelopmental disorders.
Dev Med Child Neurol. 2011 Jan;53(1):13-7. doi: 10.1111/j.1469-8749.2010.03827.x. Epub 2010 Nov 18.
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Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database.
Dev Med Child Neurol. 2010 Oct;52(10):962-5. doi: 10.1111/j.1469-8749.2010.03716.x. Epub 2010 Jun 22.
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Epilepsy in Rett syndrome---the experience of a National Rett Center.
Epilepsia. 2010 Jul;51(7):1252-8. doi: 10.1111/j.1528-1167.2010.02597.x. Epub 2010 May 13.
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Clinical and genetic aspects of Angelman syndrome.
Genet Med. 2010 Jul;12(7):385-95. doi: 10.1097/GIM.0b013e3181def138.
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The MECP2 duplication syndrome.
Am J Med Genet A. 2010 May;152A(5):1079-88. doi: 10.1002/ajmg.a.33184.
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Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12.

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