Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/nrneurol.2016.82.pdf
Reference168 articles.
1. Tassone, F. et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66, 6–15 (2000). This is the first paper that documented the elevated FMR1 mRNA in premutation patients and opened up research into premutation involvement.
2. Hagerman, R. & Hagerman, P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 12, 786–798 (2013).
3. Seltzer, M. M. et al. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am. J. Med. Genet. B Neuropsychiatr. Genet. 159B, 589–597 (2012).
4. Hunter, J. et al. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am. J. Med. Genet. A 164A, 1648–1658 (2014).
5. Tassone, F. et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 4, 100 (2012). This study uses a rapid and inexpensive new molecular technique with newborn blood spots in a large screening of newborns from three centers in the USA; the paper also reviews the prevalence studies for the premutation allele and the race and ethnicity differences across sites.
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