PubRank

Natural History of Rett Syndrome & Related Disorders

Clinical Trial ID NCT02738281

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🔗 Visit the ClinicalTrials.gov page for NCT02738281

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999 22.84
2 The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell 2003 12.50
3 Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007 7.09
4 A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 1983 6.80
5 The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 2006 4.74
6 Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 2010 4.03
7 Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005 3.87
8 Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A 2009 3.23
9 Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med 2006 2.78
10 A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nat Genet 2013 2.59
11 Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 2009 2.50
12 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 1999 2.42
13 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 2008 2.37
14 Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 2005 2.35
15 Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006 2.24
16 Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 2008 2.10
17 Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 2009 2.07
18 Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006 2.03
19 Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 2011 1.93
20 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004 1.88
21 Genomic disorders ten years on. Genome Med 2009 1.81
22 Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat 2004 1.68
23 The MECP2 duplication syndrome. Am J Med Genet A 2010 1.68
24 Key clinical features to identify girls with CDKL5 mutations. Brain 2008 1.59
25 Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses. Sci Transl Med 2012 1.56
26 CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol 2011 1.55
27 Rett syndrome: analysis of deaths in the British survey. Eur Child Adolesc Psychiatry 1997 1.43
28 Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet 2010 1.36
29 Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet 2006 1.35
30 Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci 2013 1.26
31 The impact of MeCP2 loss- or gain-of-function on synaptic plasticity. Neuropsychopharmacology 2012 1.22
32 The role of Foxg1 and dorsal midline signaling in the generation of Cajal-Retzius subtypes. J Neurosci 2007 1.21
33 Is the early development of girls with Rett disorder really normal? Pediatr Res 2005 1.20
34 The biological functions of the methyl-CpG-binding protein MeCP2 and its implication in Rett syndrome. Brain Dev 2001 1.19
35 Abnormal general movements in girls with Rett disorder: the first four months of life. Brain Dev 2005 1.18
36 A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. J Neurosci 2012 1.18
37 Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol 1998 1.17
38 The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. Eur J Hum Genet 2012 1.17
39 The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008 1.11
40 Emx2 and Foxg1 inhibit gliogenesis and promote neuronogenesis. Stem Cells 2010 1.08
41 Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28. Eur J Pediatr 2010 1.06
42 CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Hum Mol Genet 2009 1.05
43 Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proc Natl Acad Sci U S A 2012 1.02
44 MECP2 Duplication Syndrome. Mol Syndromol 2011 0.99
45 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet 2009 0.99
46 The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology 2009 0.97
47 De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet 2011 0.96
48 Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics 2009 0.95
49 The spectrum of phenotypes in females with Rett Syndrome. Brain Dev 2003 0.95
50 Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. Am J Med Genet A 2012 0.85
51 Brief report: regression timing and associated features in MECP2 duplication syndrome. J Autism Dev Disord 2013 0.84
52 Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis. J Child Neurol 2011 0.84
53 Early clinical signs in the Rett disorder. Neuropediatrics 1995 0.83
54 The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008 0.83
55 Longitudinal hand function in Rett syndrome. J Child Neurol 2010 0.83
56 Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy. J Mol Med (Berl) 2010 0.81
57 Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord 2014 0.79
58 The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints. Am J Med Genet A 2012 0.77
59 Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature. Epilepsia 2012 0.77
60 Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome. PLoS One 2016 0.75
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