Maria José Fonseca
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Epilepsy research and treatment, Academic Research in Diverse Fields, Mitochondrial Function and Pathology
Most-Cited Works
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
- → Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type(2008)91 cited
- → Stereotypies in Rett syndrome(2007)83 cited
- → Megalencephalic leukoencephalopathy with subcortical cysts(2018)81 cited
- → Megalencephalic leukoencephalopathy with cysts without MLC1 defect(2010)62 cited
- → Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment(2008)47 cited
- → Memory Functioning in Children with Epilepsy: Frontal Lobe Epilepsy, Childhood Absence Epilepsy, and Benign Epilepsy with Centrotemporal Spikes(2014)34 cited
- → Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes(2010)34 cited
- → Intellectual functioning in children with epilepsy: Frontal lobe epilepsy, childhood absence epilepsy and benign epilepsy with centro-temporal spikes(2013)32 cited
- → Transient idiopathic dystonia in infancy(2010)19 cited