M. Fonseca

Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes

G. Oliveira, J. Epplen, P. Maciel, 2011, Brain and Development.

Stereotypies in Rett syndrome

G. Oliveira, P. Maciel, P. Cabral, 2007, Neurology.

Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type

G. Oliveira, P. Maciel, P. Cabral, 2008, Movement disorders : official journal of the Movement Disorder Society.

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

A. Ormazabal, R. Artuch, P. Maciel, 2009, Brain and Development.

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

S. Pascual-Pascual, C. Barbot, T. Coelho, 2008, Clinical genetics.