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O GeoGebra como ferramenta de apoio à aprendizagem significativa das Transforma...

A problemática do insucesso escolar a matemática e as mais-valias que se tem vindo a reconhecer às tecnologias informáticas no contexto educativo levaram a que o Governo de Cabo Verde implementasse o Programa “Mundu Novu”. Procurando tirar partido de tal programa e, ao mesmo tempo, avançar com uma nova abordagem às transformações geométr...

Fragile X syndrome: intergenerational allele instability and associated phenoty...

Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. This disease is caused by a (CGG)n expansion in the 5’UTR of the FMR1 gene, which as a result is methylated and gene silenced. Four classes of alleles can be found based on CGG repeat length: normal (5-44), intermediate (45-54), premutation (55-200) and full muta...

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...

FMR1 premutations may be associated with a wider spectrum of phenotypes

The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5’UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...

Impacto da formação na prática pedagógica dos professores : estudo de uma ação ...

Tese de mestrado, Ciências da Educação (Formação de Professores), Universidade de Lisboa, Instituto de Educação, 2011 ; O papel dos professores de 1ºciclo no desenvolvimento das competências da leitura, desde sempre fundamental, tem sido nos últimos anos confrontado com a necessidade de introduzir novas práticas capazes de despertar ou manter vivo o estímulo dos alunos para a aprendizagem da leitura. Os result...

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 1...

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The first families reported with SCA10 were of Mexican origin, but the disease was soon after described in Brazilian families of mixed Portuguese and Amerindian ancestry. The origin of the SCA10 expa...

Ataxias espinocerebelares em 114 famílias do sul do Brasil : achados clínicos e...

Injeção intravascular acidental de anestésico local e pneumotórax em paciente s...

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2...

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by a...

Mapeamento cromossómico da doença de Machado-Joseph e heterogeneidade genética ...