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PRPS1 mutations: four distinct syndromes and potential treatment.

Publication

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

Publication

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Publication

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

Publication

NTNG1 mutations are a rare cause of Rett syndrome.

Publication

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Publication

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice.

Publication

Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development.

Publication

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Publication

Surfactant protein B deficiency: clinical, histological and molecular evaluation.