FMR1 Disorders: Basics of Biology and Therapeutics in Development
CellsFragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett +3 more
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Instability of a (CGG)98 repeat in the Fmr1 promoter [PDF]
, 2001 Carola Bontekoe +7 more
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A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA [PDF]
, 2001 Flora Tassone +3 more
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Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia [PDF]
, 2001 Lars Allan Larsen +5 more
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Alterations of Amino Acids and Monoamine Metabolism inMale Fmr1 Knockout Mice: A Putative Animal Model ofthe Human Fragile X Mental Retardation Syndrome [PDF]
, 2001 Michael Gruß, Katharina Braun
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Stem Cell Research, 2019 Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri +3 more
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Effects of Fragile X syndrome and an FMR1 knockout mouse model on forebrain neuronal cell biology [PDF]
, 2002 James D. Churchill +3 more
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The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome [PDF]
, 2003 Rob Willemsen +12 more
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Differential impact of the FMR1 gene on visual processing in fragile X syndrome [PDF]
, 2003 C. S. Kogan
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The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys [PDF]
, 2003 I. González de Arrieta +8 more
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