Maria José Fonseca

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Teresa Temudo, Elisabete Ramos, Karin Ziliotto Dias et al. · Movement Disorders · 2008 · 93 citations

Life Sciences, Genetics, Neurology +12

Stereotypies in Rett syndrome

Teresa Temudo, Pedro Oliveira, Mònica Santos et al. · Neurology · 2007 · 83 citations · Full text

Life Sciences, Genetics, Neurology +10

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Medicine, Neurology, Neuroscience +9

Megalencephalic leukoencephalopathy with cysts without <i>MLC1</i> defect

Marjo S. van der Knaap, Vincent Lai, Wolfgang Köhler et al. · Annals of Neurology · 2010 · 63 citations

Medicine, Neurology, Neuroscience +16