Fragile X Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Fragile X Syndrome, including details on symptoms, treatment, heritability, diagnosis.

Volume 3 (2007), Issue 5 (May)

1. Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.
   BMC Med Genet, 8: 18. [Abstract] [Full-text]
2. Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat.
   Mov Disord, 22(6): 866-70. [Abstract] [Full-text]
3. Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
   Mov Disord, 22(5): 645-50. [Abstract] [Full-text]
4. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.
   Gene, 395(1): 125-34. [Abstract] [Full-text]
5. Correlates of maternal behaviours in mothers of children with fragile X syndrome.
   J Intellect Disabil Res, 51: 447-62. [Abstract] [Full-text]
6. Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome.
   Hum Brain Mapp, 28(6): 543-54. [Abstract] [Full-text]
7. Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome.
   J Neurosci, 27(20): 5338-48. [Abstract] [Full-text]
8. The Pathophysiology of Fragile X Syndrome.
   Annu Rev Genomics Hum Genet. [Abstract] [Full-text]
9. Dynamic mutations as digital genetic modulators of brain development, function and dysfunction.
   Bioessays, 29(6): 525-35. [Abstract] [Full-text]
10. Increased threshold for spike-timing-dependent plasticity is caused by unreliable calcium signaling in mice lacking fragile X gene FMR1.
    Neuron, 54(4): 627-38. [Abstract] [Full-text]
11. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
    Eur J Med Genet, 50(3): 200-8. [Abstract] [Full-text]
12. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
    Am J Med Genet A, 143(12): 1358-65. [Abstract] [Full-text]
13. Sustained attention and response inhibition in boys with fragile X syndrome: measures of continuous performance.
    Am J Med Genet B Neuropsychiatr Genet, 144(4): 517-32. [Abstract] [Full-text]
14. Understanding of facial expressions of emotion by children with intellectual disabilities of differing aetiology.
    J Intellect Disabil Res, 51: 551-63. [Abstract] [Full-text]

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