SCA27 caused by a chromosome translocation: further delineation of the phenotype-Reference-Cited by-同舟云学术

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SCA27 caused by a chromosome translocation: further delineation of the phenotype

Published:2009-05-27 Issue:4 Volume:10 Page:371-374
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Misceo D.,Fannemel M.,Barøy T.,Roberto R.,Tvedt B.,Jæger T.,Bryn V.,Strømme P.,Frengen E.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-009-0197-x.pdf

Reference8 articles.

1. Wang Q, Mcewen DG, Ornitz DM (2000) Subcellular and developmental expression of alternatively spliced forms of fibroblast growth factor 14. Mech Develop 90:283–287. doi: 1016/S0925-4773(99)00241-5

2. Brusse E, de Koning I, Maat-Kievit A et al (2006) Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord 21:396–401. doi: 10.1002/mds.20708

3. Dalski A, Atici J, Kreuz FR et al (2005) Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 13:118–120. doi: 10.1038/sj.ejhg.5201286

4. van Swieten JC, Brusse E, de Graaf BM et al (2003) A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am J Hum Genet 72:191–199. doi: 10.1086/345488

5. Smallwood PM, MunozSanjuan I, Tong P et al (1996) Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development. Proc Natl Acad Sci 93:9850–9857. doi: 10.1073/pnas.93.18.9850

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