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Early onset seizures and Rett-like features associated with mutations in CDKL5
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimesExpand
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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
Frontotemporal dementia and amyotrophic lateral sclerosis are closely related clinical syndromes with overlapping molecular pathogenesis. Several families have been reported with members affected byExpand
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Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
MECP2 mutations are responsible for Rett syndrome (RTT). Approximately a quarter of classic RTT cases, however, do not have an identifiable mutation of the MECP2 gene. We hypothesized that largerExpand
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The HdhQ150/Q150 knock-in mouse model of HD and the R6/2 exon 1 model develop comparable and widespread molecular phenotypes
The identification of the Huntington's disease (HD) mutation as a CAG/polyglutamine repeat expansion enabled the generation of transgenic rodent models and gene-targeted mouse models of HD. Of these,Expand
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Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation
One strategy to restore vision in retinitis pigmentosa and age-related macular degeneration is cell replacement. Typically, patients lose vision when the outer retinal photoreceptor layer is lost,Expand
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The CRTC1-SIK1 Pathway Regulates Entrainment of the Circadian Clock
Summary Retinal photoreceptors entrain the circadian system to the solar day. This photic resetting involves cAMP response element binding protein (CREB)-mediated upregulation of Per genes withinExpand
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
MECP2 mutations are identifiable in ∼80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome andExpand
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Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls
Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoterExpand
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Truncated forms of the androgen receptor are associated with polyglutamine expansion in X-linked spinal and bulbar muscular atrophy.
X-linked spinal and bulbar muscular atrophy (SBMA) is a rare form of motor neuron degeneration linked to a CAG repeat expansion in the first exon of the androgen receptor gene coding for aExpand
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Intermittent chemotherapy plus either intermittent or continuous cetuximab for first-line treatment of patients with KRAS wild-type advanced colorectal cancer (COIN-B): a randomised phase 2 trial
Summary Background Advanced colorectal cancer is treated with a combination of cytotoxic drugs and targeted treatments. However, how best to minimise the time spent taking cytotoxic drugs and whetherExpand
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