Mostrar 39-58 de um total de 105 resultados.
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Data | Título | Autor(es) | Tipo | Acesso |
9-Fev-2016 | Identification of novel genetic causes of Rett syndrome-like phenotypes | Lopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al. | Artigo | Acesso aberto |
2018 | Identification of rare de novo epigenetic variations in congenital disorders | Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al. | Artigo | Acesso aberto |
Jan-2015 | Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. | Gao, Rui; Liu, Yongping; Fernandes, Anabela Silva, et al. | Artigo | Acesso aberto |
2010 | Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3) | Bettencourt, Conceição; Santos, Cristina; Montiel, Rafael, et al. | Artigo | Acesso restrito UMinho |
Set-2015 | Institutionalization and indiscriminate social behavior: differential-susceptibility versus diathesis-stress models for the 5-HTTLPR and BDNF genotypes | Mesquita, Ana Raquel Marcelino; Belsky, J.; Li, Z., et al. | Artigo | Acesso restrito UMinho |
16-Jun-2023 | Learning the biochemical basis of axonal guidance: using Caenorhabditis elegans as a model | Castro, Andreia Cristiana Teixeira; Sousa, João Carlos; Vieira, Cármen Maria Leal, et al. | Artigo | Acesso aberto |
21-Out-2015 | Limited effect of chronic valproic acid treatment in a mouse model of Machado-Joseph disease | Esteves, Sofia; Silva, Sara Carina Duarte; Naia, Luana, et al. | Artigo | Acesso aberto |
Out-2006 | Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans | Santos, Monica; Maciel, P.; The GAMES Collaborative Group | Artigo | Acesso restrito UMinho |
2014 | Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease | Silva, Sara Duarte; Carvalho, Andreia Neves; Cunha, Carina Soares, et al. | Artigo | Acesso aberto |
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 |