FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome-Reference-Cited by-同舟云学术

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Published:2014-11-26 Issue:1 Volume:2 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Buijsen Ronald AM,Sellier Chantal,Severijnen Lies-Anne WFM,Oulad-Abdelghani Mustapha,Verhagen Rob FM,Berman Robert F,Charlet-Berguerand Nicolas,Willemsen Rob,Hukema Renate K

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-014-0162-2.pdf

Reference9 articles.

1. Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ: Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 57(1):127–130. 10.1212/WNL.57.1.127

2. Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J: Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A 2014, 164(7):1648–1658. 10.1002/ajmg.a.36511

3. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xuncla M, Badenas C, Kulisevsky J, Gomez B, Mila M: Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009, 17(10):1359–1362. 10.1038/ejhg.2009.51

4. Willemsen R, Levenga J, Oostra B: CGG repeat in the FMR1 gene: size matters. Clin Genet 2011, 80(3):214–225. 10.1111/j.1399-0004.2011.01723.x

5. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ: Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome. Am J Hum Genet 2000, 66(1):6–15. 10.1086/302720

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