Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

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dc.contributor.authorTemudo, T.por
dc.contributor.authorOliveira, P.por
dc.contributor.authorSantos, M.por
dc.contributor.authorDias, K.por
dc.contributor.authorVieira, J.por
dc.contributor.authorMoreira, A.por
dc.contributor.authorCalado, E.por
dc.contributor.authorCarrilho, I.por
dc.contributor.authorOliveira, G.por
dc.contributor.authorLevy, A.por
dc.contributor.authorBarbot, C.por
dc.contributor.authorFonseca, M.por
dc.contributor.authorCabral, A.por
dc.contributor.authorDias, A.por
dc.contributor.authorCabral, P.por
dc.contributor.authorMonteiro, J.por
dc.contributor.authorBorges, L.por
dc.contributor.authorGomes, R.por
dc.contributor.authorBarbosa, C.por
dc.contributor.authorMira, G.por
dc.contributor.authorEusébio, F.por
dc.contributor.authorSantos, M.por
dc.contributor.authorSequeiros, J.por
dc.contributor.authorMaciel, P.por
dc.date.accessioned2020-10-27T16:11:00Z
dc.date.issued2007-04
dc.description.abstractHand stereotypies are considered a hallmark of Rett syndrome (RTT) and are usually described as symmetric movements at the midline. 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.eng
dc.description.sponsorshipResearch on RTT is supported by FSE/FEDER and Fundação para a Ciência e Tecnologia (FCT), Portugal, grant POCTI/MGI/41416/2001. M.S. is the recipient of a PhD fellowship by FCT (SFRH/BD/9111/2002).eng
dc.distributioninternationalpor
dc.identifier.articlenumber123456789
dc.identifier.citationTemudo, T., Oliveira, P., Santos, M., Dias, K., Vieira, J., Moreira, A., … Maciel, P. (2007, April 9). Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations. Neurology. Ovid Technologies (Wolters Kluwer Health). http://doi.org/10.1212/01.wnl.0000259086.34769.78por
dc.identifier.doi10.1212/01.wnl.0000259086.34769.78por
dc.identifier.eid1111111
dc.identifier.eisbn0-000-000-02
dc.identifier.eissn1526-632X
dc.identifier.isbn0-000-000-01
dc.identifier.issn0028-3878
dc.identifier.otherWO 2012172528 A1
dc.identifier.pmcPMC0000
dc.identifier.pmid17420401
dc.identifier.tid000000000
dc.identifier.urihttps://hdl.handle.net/1822/67776
dc.language.isoeng
dc.peerreviewedyes
dc.publisherLippincott, Williams & Wilkinspor
dc.relationClinical, Epidemiologic and Genetic study of Rett syndrome in Portugal [POCTI/MGI/41416/2001]
dc.relationEstudo de patogénese da síndrome de RETT num modelo em ratinho e sua recuperação por expressão pós-natal da proteína MeCP2 [SFRH/BD/9111/2002]
dc.relation.hasversionhttps://www.neurology.org/doi/10.1212/01.wnl.0000259086.34769.78
dc.relation.isbasedonhttp://www.DATASET_TEST_1.pt
dc.relation.isbasedonhttp://www.DATASET_TEST_2.pt
dc.rightsrestrictedAccess
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/
dc.subjectAdolescenteng
dc.subjectAdulteng
dc.subjectChildeng
dc.subjectComorbidityeng
dc.subjectDNA Mutational Analysiseng
dc.subjectFemaleeng
dc.subjectGenetic Predisposition to Diseaseeng
dc.subjectGenetic Testingeng
dc.subjectHeterozygoteeng
dc.subjectHumanseng
dc.subjectIncidenceeng
dc.subjectInfanteng
dc.subjectMaleeng
dc.subjectMethyl-CpG-Binding Protein 2eng
dc.subjectMutationeng
dc.subjectPolymorphismeng
dc.subjectPortugalpor
dc.subjectPrevalenceeng
dc.subjectRett Syndromeeng
dc.subjectRisk Assessmenteng
dc.subjectRisk Factorseng
dc.subjectStereotypic Movement Disordereng
dc.subjectPreschooleng
dc.subjectSingle Nucleotideeng
dc.subject.acmsubjectACM
dc.subject.arxivsubjectARXIV
dc.subject.fosCiências Médicas::Medicina Clínicapor
dc.subject.jelA: General Economics and Teaching::A1: General Economics::A10: Generaleng
dc.subject.odsEducação de qualidadepor
dc.subject.odsIndústria, inovação e infraestruturaspor
dc.subject.udcsubjectUDC
dc.subject.wosScience & Technologyeng
dc.subject.wos00000WOS
dc.titleStereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutationseng
dc.typearticle
dspace.entity.typePublication
oaire.awardNumberPOCTI/MGI/41416/2001
oaire.awardNumberSFRH/BD/9111/2002
oaire.awardTitleClinical, Epidemiologic and Genetic study of Rett syndrome in Portugal [POCTI/MGI/41416/2001]
oaire.awardTitleEstudo de patogénese da síndrome de RETT num modelo em ratinho e sua recuperação por expressão pós-natal da proteína MeCP2 [SFRH/BD/9111/2002]
oaire.awardURIhttps://hdl.handle.net/1822/99404
oaire.awardURIhttps://hdl.handle.net/1822/99405
oaire.citation.endPage1187
oaire.citation.issue15
oaire.citation.startPage1183
oaire.citation.volume68
oaire.citationEndPage1187por
oaire.citationIssue15por
oaire.citationStartPage1183por
oaire.citationVolume68por
oaire.funderIdentifierhttp://doi.org/10.13039/501100001871
oaire.funderIdentifierhttp://doi.org/10.13039/501100001871
oaire.funderNameFundação para a Ciência e a Tecnologia, I.P.
oaire.funderNameFundação para a Ciência e a Tecnologia, I.P.
oaire.fundingStreamConcurso para Projectos de I&D em todos os Domínios Científicos - 2001
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
relation.isProjectOfPublicationa0432110-19fc-4c51-b5ef-6e4df32a5410
relation.isProjectOfPublication8e5df869-cff9-4ca2-a96d-cc2ee1bf16c7
relation.isProjectOfPublication.latestForDiscoverya0432110-19fc-4c51-b5ef-6e4df32a5410
sdum.journalNeurologyeng

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