Disease: X-linked mental retardation type Martinez
- CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain
- Chromosomal fragility in a behavioral disorder
- Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon
- Enzyme replacement therapy of lysosomal storage diseases
- Glycogen synthase kinase-3 inhibitors reverse deficits in long-term potentiation and cognition in fragile X mice
- Modulation of dendritic spines and synaptic function by Rac1: a possible link to Fragile X syndrome pathology
- Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide
- Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands
- X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients