- Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 geneCatarina Correia
Instituto Gulbenkian de Ciencia, Rua da Quinta Grande 6, 2781 Oeiras, Portugal
J Autism Dev Disord 36:1137-40. 2006....
- Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditionsGuiomar Oliveira
Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra, Portugal
Dev Med Child Neurol 49:726-33. 2007..2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders...
- A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaMette Gilling
Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
Eur J Hum Genet 16:312-9. 2008..Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders...
- Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTeresa Temudo
Unidade de Neuropediatria, Servico de Pediatria, Hospital Geral de Santo Antonio, Porto, Portugal
Mov Disord 23:1384-90. 2008....
- Partial tetrasomy of chromosome 3q and mosaicism in a child with autismGuiomar Oliveira
Centro de Desenvolvimento da Criança, Hospital Pediátrico Coimbra, Portugal
J Autism Dev Disord 33:177-85. 2003....
- Mitochondrial dysfunction in autism spectrum disorders: a population-based studyG Oliveira
Outpatient Clinic of Autism, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, 3000 076 Coimbra, Portugal
Dev Med Child Neurol 47:185-9. 2005..2%) and warranting further investigation...
- Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental DisordersSusana Mouga
Faculty of Medicine, Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Azinhaga Santa Comba, Celas, 3000 548, Coimbra, Portugal
J Autism Dev Disord 46:2940-55. 2016..The results replicated our previous work on adaptive behaviour, showing that adaptive functioning is positively correlated with intellectual profile, especially with the Communication domain in ASD. ..
- Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through insilico analysis of its functional structureInês C Conceição
aNational Health Institute Doutor Ricardo Jorge bBiosystems and Integrative Sciences Institute BioISI, Lisboa cInstituto Gulbenkian de Ciência, Oeiras dUnidade de Neurodesenvolvimento e Autismo, Centro de Desenvolvimento da Criança e Centro Investigação e Formação Clínica, Hospital Pediátrico, Centro Hospitalar e University of Coimbra, Coimbra eInstitute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
Psychiatr Genet . 2016..The present study aimed to define the critical regions for NDD within PARK2...
- Adaptive profiles in autism and other neurodevelopmental disordersSusana Mouga
Faculty of Medicine, Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal
J Autism Dev Disord 45:1001-12. 2015..Co-occurring ID result in further debilitating effects on overall functioning, especially in ASD. CA is negatively associated with VABS scores. ..
- A direct comparison of local-global integration in autism and other developmental disorders: implications for the central coherence hypothesisInês Bernardino
Visual Neuroscience Laboratory, IBILI, Faculty of Medicine, Coimbra, Portugal
PLoS ONE 7:e39351. 2012..Taken together these findings suggest that other mechanisms such as dorsal stream deficits (largest in WS) may underlie impaired central coherence...
- MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patientsAna M Coutinho
Instituto Gulbenkian de Ciencia, Oeiras, Portugal
Am J Med Genet B Neuropsychiatr Genet 144:475-83. 2007..Our results suggest that MECP2 can play a role in autism etiology, although very rarely, supporting the notion that MECP2 mutations underlie several neurodevelopmental disorders...
- Autoantibody repertoires to brain tissue in autism nuclear familiesSusana C Silva
Instituto Gulbenkian de Ciencia, Rua da Quinta Grande 6, 2781 196 Oeiras, Portugal
J Neuroimmunol 152:176-82. 2004..The molecular identification of the target protein in Section 32 will contribute to the understanding of the role of immune responses against brain antigens in autistic patients...
- Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardationMonica Santos
Life and Health Sciences Research Institute ICVS, School of Health Sciences School, University of Minho, Braga, Portugal
Dis Markers 24:319-24. 2008..Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation...
- Atypical stereotypies and vocal tics in Rett syndrome: An illustrative caseTeresa Temudo
Mov Disord 23:622-4. 2008
- Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levelsAna M Coutinho
Instituto Gulbenkian de Ciencia, R Quinta Grande 6, Ap 14, 2781 901 Oeiras, Portugal
Hum Genet 121:243-56. 2007....