Affiliation: University of Minho
- Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2Jiadi Wen
Child and Family Research Institute, Department of Pathology, University of British Columbia, Vancouver, BC, Canada
Orphanet J Rare Dis 8:100. 2013..However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated...
- Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvementP Maciel
Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
Neurology 65:603-5. 2005..This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum...
- Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndromeM Santos
Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
Neuroscience 170:453-67. 2010..Moreover, we highlight the contribution of cortical regions along with the brainstem to be in the origin of the pathology and the role of hippocampus and cerebellum in the progression of the disease rather than in its establishment...
- T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese populationA Carvalho
Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
Mult Scler 14:550-2. 2008..Our results show no significant association with MS and no protective effect of T-1237C concerning age of onset, disease severity or disease subtype in MS patients...
- Improvement in the molecular diagnosis of Machado-Joseph diseaseP Maciel
UnIGENe, IBMC, Universidade do Porto, 4150-180 Porto, Portugal
Arch Neurol 58:1821-7. 2001..These strategies, developed to overcome the practical difficulties mostly in the presymptomatic and prenatal diagnosis of MJD, should prove useful for other polyglutamine-related disorders...
- Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific allelesP Maciel
City of Hope National Medical Center Beckman Research Institute, Duarte, CA, USA
Biotechniques 34:460-2. 2003
- A whole genome screen for association with multiple sclerosis in Portuguese patientsM Santos
UnIGENe IBMC, University of Porto, Portugal
J Neuroimmunol 143:112-5. 2003..Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association...
- APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answersR M Burwick
Division of Epidemiology, University of California, School of Public Health, Berkeley, CA 94720, USA
Neurology 66:1373-83. 2006..The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism...
- Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutationsT Temudo
Unidade de Neuropediatria, Servico de Pediatria, Hospital de Santo Antonio, SA, Largo Abel Salazar, Porto, Portugal
Neurology 68:1183-7. 2007..However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized...