Mostrar 48-67 de um total de 105 resultados.
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Data | Título | Autor(es) | Tipo | Acesso |
Jun-2007 | MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients | Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al. | Artigo | Acesso restrito UMinho |
25-Jun-2022 | Microglial depletion has no impact on disease progression in a mouse model of machado–joseph disease | Campos, Ana Bela; Silva, Sara Carina Duarte; Fernandes, Bruno, et al. | Artigo | Acesso aberto |
Nov-2003 | Molecular diagnosis of Huntington disease in Portugal : implications for genetic counselling and clinical practice | Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima, et al. | Artigo | Acesso aberto |
Jan-2012 | Molecular genetics of intellectual disability | Bessa, C.; Lopes, Fátima; Maciel, P. | Capítulo de livro | Acesso aberto |
13-Out-2010 | 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 syndrome | Santos, M.; Summavielle, T.; Teixeira-Castro, A., et al. | Artigo | Acesso restrito UMinho |
2010 | Motor and behavioural abnormalities associated with persistent spontaneous epilepsy in the fvb/n mouse strain | Fernandes, Anabela Silva; Sousa, Nuno; Oliveira, Pedro, et al. | Artigo | Acesso aberto |
Out-2010 | Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products | Fernandes, Anabela Silva; Costa, Maria do Carmo; Silva, Sara Carina Duarte, et al. | Artigo | Acesso aberto |
30-Jul-2008 | Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type | Temudo, Teresa; Ramos, Elisabete; Dias, Karin, et al. | Artigo | Acesso restrito UMinho |
Out-2010 | Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis | Pinho, Teresa; Silva-Fernandes, Anabela; Bousbaa, Hassan, et al. | Artigo | Acesso aberto |
Jan-2009 | Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients | Santos, Mónica; Temudo, Teresa; Kay, Teresa, et al. | Artigo | Acesso aberto |
Nov-2007 | NEDD8: a new ataxin-3 interactor | Ferro, Anabela; Carvalho, Ana Luísa; Castro, Andreia Cristiana Teixeira, et al. | Artigo | Acesso aberto |
22-Jun-2007 | Neurodevelopment milestone abnormalities in rats exposed to stress in early life | Mesquita, Ana Raquel Marcelino; Pêgo, José M.; Summavielle, Teresa, et al. | Artigo | Acesso restrito UMinho |
Ago-2005 | Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement | Maciel, P.; Cruz, V. T.; Constante, M., et al. | Artigo | Acesso aberto |
1-Ago-2011 | Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways | Castro, Andreia Cristiana Teixeira de; Ailion, Michael; Jalles, Ana, et al. | Artigo | Acesso aberto |
Mai-2018 | Neuroprotective effects of creatine in the CMVMJD135 mouse model of Spinocerebellar Ataxia type 3 | Silva, Sara Carina Duarte; Carvalho, Andreia Alexandra Neves; Cunha, Carina Isabel Soares, et al. | Artigo | Acesso aberto |
2021 | Neurotherapeutic effect of Hyptis spp. leaf extracts in Caenorhabditis elegans models of tauopathy and polyglutamine disease: role of the glutathione redox cycle | Vilasboas-Campos, Daniela; Costa, Marta Daniela Araújo; Castro, Andreia Cristiana Teixeira, et al. | Artigo | Acesso restrito UMinho |
2019 | Neurotoxic effects of MPTP on mouse cerebral cortex: Modulation of neuroinflammation as a neuroprotective strategy | Mendes, Mariana Oliveira; Rosa, Alexandra Isabel; Carvalho, Andreia Neves, et al. | Artigo | Acesso aberto |
2005 | Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea | Costa, Maria do Carmo; Costa, Cristina; Silva, Ana Paula, et al. | Artigo | Acesso aberto |
2015 | Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease | Raposo, Mafalda; Bettencourt, Conceição; Maciel, P., et al. | Artigo | Acesso aberto |
21-Set-2017 | A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings | Seabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan, et al. | Artigo | Acesso aberto |