Teresa Temudo

Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Idiopathic Epilepsies with Seizures Precipitated by Fever and <i>SCN1A</i> Abnormalities

Carla Marini, Davide Mei, Teresa Temudo et al. · Epilepsia · 2007 · 172 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

M. Pineda, María‐Socorro Pérez‐Poyato, Mar O’Callaghan et al. · Molecular Genetics and Metabolism · 2009 · 146 citations

Medicine, Child Health, Pediatrics +5

Status dystonicus: Predictors of outcome and progression patterns of underlying disease

Alfonso Fasano, Lucia Ricciardi, Anna Rita Bentivoglio et al. · Movement Disorders · 2012 · 115 citations

Medicine, Neurological Surgery, Neurology +11

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