Associated Papers
Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain.
Hirn E et al.
Pediatric Neurology, 2025
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D et al.
Journal of Human Genetics, 2016
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
Bianciardi L et al.
Journal of Human Genetics, 2016
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
Chapleau CA et al.
American Journal of Medical Genetics. Part A, 2013
Patients with Rett syndrome sustain low-energy fractures.
Roende G et al.
Pediatric Research, 2011
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
Zahorakova D et al.
Journal of Human Genetics, 2007
A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.
Bzduch V et al.
Bratislavske Lekarske Listy, 2004
[Analysis of the most frequent mutations in girls with Rett syndrome].
Rosipal R et al.
Casopis Lekaru Ceskych, 2001
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