Results 51 to 60 of about 7,289,232 (294)
Heliyon, 2019 Background: Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene (FMR1).
Giuseppe Bonapace +11 more
doaj +1 more source
Langage et communication dans le syndrome du X-Fragile [PDF]
, 2018 Le Syndrome du X-Fragile (SFX) renvoie à une famille de problèmes médicaux et développementaux liés à une réplication de la portion Xq27.3 du chromosome X.
Comblain, Annick
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Australian Journal of Social Issues, EarlyView.ABSTRACT This study examines informal supporters' experiences and views of NDIS behaviour support practitioners, including engagement, information needed to support selection, and perceptions of practitioners' knowledge, skill, and practice. It reports data from a cross‐sectional online survey of 123 informal support providers of participants receiving
Alinka Fisher +7 more
wiley +1 more source
Pathological Plasticity in Fragile X Syndrome
Neural Plasticity, 2012 Deficits in neuronal plasticity are common hallmarks of many neurodevelopmental disorders. In the case of fragile-X syndrome (FXS), disruption in the function of a single gene, FMR1, results in a variety of neurological consequences directly related to ...
Brandon S. Martin, Molly M. Huntsman
doaj +1 more source
British Educational Research Journal, EarlyView.Abstract All children should have access to quality education through a child‐centred pedagogy. An inclusive, child‐centred pedagogy uses a strength‐based view of children that recognises each child as unique and competent, providing children with multiple opportunities to explore and learn at their own pace.
Katherine Gulliver
wiley +1 more source
Genômica do X-frágil: elementos de regulação do Gene FMR1 [PDF]
, 2008 Tese (doutorado) - Universidade Federal de Santa Catarina, Centro Tecnológico. Programa de Pós-Graduação em Engenharia Química, Florianópolis, 2008.A Síndrome do X Frágil (SXF) é a forma de retardo mental herdado mais comum encontrada, afetando um entre ...
Serpa, Gisele
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BMEMat, EarlyView.Plant‐derived extracellular vesicles offer numerous advantages and are regarded as highly promising candidates in the field of biomedicine. Abstract Extracellular vesicles (EVs) are double‐membrane vesicular structures that can be secreted by nearly all living cells.
Zilin Li +6 more
wiley +1 more source
The Epigenetics of Fragile X Syndrome [PDF]
Cell Stem Cell, 2007 In this issue of Cell Stem Cell, Eiges et al. (2007) generate a human ES cell line from an embryo identified by preimplantation genetic diagnosis, and shed light on the molecular pathology of fragile X syndrome. The discovery that, upon differentiation, epigenetic modifications likely trigger silencing of the FMR1 gene sets the stage for further ...
openaire +2 more sources
Fragile X syndrome and epilepsy [PDF]
Neuroscience Bulletin, 2008 Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy.
Li-Feng, Qiu +3 more
openaire +2 more sources
Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source