Disease: Mental retardation- X-linked- nonspecific
- A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood
- Adult Leukodystrophies: A Step-by-Step Diagnostic Approach
- Clinical and molecular heterogeneity in CDLK5 disorders
- Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case
- Early recognition of patients with leukodystrophies
- Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome
- FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
- Huntingtin phosphorylation governs BDNF homeostasis and improves the phenotype of Mecp2 knockout mice
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
- Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies
- Ocular manifestations in the X-linked intellectual disability syndromes
- Plasma amino acids indicate glioblastoma with ATRX loss
- Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review
- Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands
- Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation
- X-linked adrenoleukodystrophy diagnosed in three brothers