Inês Carrilho

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Neurodegeneration associated with genetic defects in phospholipase A ₂

Allison Gregory, S. K. Westaway, Ida E. Holm et al. · Neurology · 2008 · 266 citations · Full text

Life Sciences, Genetics, Neurology +12

The expanding clinical and genetic spectrum of ATP1A3-related disorders

Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke et al. · Neurology · 2014 · 115 citations

Medicine, Genetics, Neurology +17

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