51
TITLE: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing  Full Text
AUTHORS: Fatima Lopes; Mafalda Barbosa; Teresa Temudo; Joaquim de Sa; Ana Isabel Dias; Guiomar Oliveira; Pedro Cabra; Eulalia Calado; Isabel Fineza Cruz; Gabriela Soares; Jose Pedro Vieira; Maria Margarida Venancio; Renata Oliveira; Inger Jonasson; Adam Ameur; Dalila Pinto; Ulf Gyllensten; Patricia Maciel;
PUBLISHED: 2015, SOURCE: Joint Meeting of the 20th Biennial Meeting of the International-Society-for-Developmental-Neuroscience / 5th Annual NeuroDevNet Brain Development Conference in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, VOLUME: 47
INDEXED IN: WOS CrossRef
52
TITLE: The disruption of proteostasis in neurodegenerative disorders
AUTHORS: Ana Jalles; Patricia Maciel;
PUBLISHED: 2015, SOURCE: AIMS MOLECULAR SCIENCE, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
55
TITLE: Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells
AUTHORS: Neves-Carvalho, A; Logarinho, E; Freitas, A; Duarte-Silva, S; Costa, MdC; Silva-Fernandes, A; Martins, M; Serra, SC; Lopes, AT; Paulson, HL; Heutink, P; Relvas, JB ; Maciel, P;
PUBLISHED: 2014, SOURCE: Human Molecular Genetics, VOLUME: 24, ISSUE: 1
INDEXED IN: CrossRef: 22
IN MY: ORCID
56
TITLE: Trastornos nutricionales y gastrointestinales en el síndrome de Rett: importancia de la intervención temprana
AUTHORS: Prior, C; Nunes, A; Rios, M; Sequeiros, J; Maciel, P; Gomes, L; Temudo, T;
PUBLISHED: 2010, SOURCE: Anales de Pediatría, VOLUME: 72, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID
57
TITLE: Age- and Region-Specific Analysis of Monoaminergic Systems in the Brain of Mecp2-Null Mice Implies the Prefrontal and Motor Cortices in the Earliest Stages of Disease
AUTHORS: Monica Santos; Teresa Summavielle; Anabela Silva Fernandes; Andreia Teixeira Castro; Mara Dierssen; Pedro Oliveira; Nuno Sousa; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
INDEXED IN: WOS
58
TITLE: Genotype-Phenotype Correlation in a Transgenic Mouse Model of Machado-Joseph Disease
AUTHORS: Anabela Silva Fernandes; Maria Do Carmo Costa; Sara Duarte Silva; Cristina Costa; Pedro Oliveira; Patricia Maciel;
PUBLISHED: 2009, SOURCE: 61st Annual Meeting of American-Academy-of-Neurology in NEUROLOGY, VOLUME: 72, ISSUE: 11
INDEXED IN: WOS
59
60
TITLE: 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 Retardation   Full Text
AUTHORS: Mónica Santos; Jin Yan; Teresa Temudo; Guiomar Oliveira; José Pedro Vieira; Jinong Fen; Steve Sommer; Patrícia Maciel;
PUBLISHED: 2008, SOURCE: Disease Markers, VOLUME: 24, ISSUE: 6
INDEXED IN: CrossRef
IN MY: ORCID
Page 6 of 8. Total results: 75.