Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation-Reference-Cited by-同舟云学术

Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation

Published:2004 Issue:1 Volume:57 Page:144-147
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Berry-Kravis Elizabeth,Potanos Kristina,Weinberg Dahlia,Zhou Lili,Goetz Christopher G.

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference20 articles.

1. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

2. Absence of expression of the FMR-1 gene in fragile X syndrome

3. The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

4. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

5. Physical and behavioral phenotype. In: eds. Fragile X syndrome: diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1996: 3-87.

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