Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria-Reference-Cited by-同舟云学术

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Published:2009-05-24 Issue:6 Volume:41 Page:746-752
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Jaglin Xavier Hubert,Poirier Karine,Saillour Yoann,Buhler Emmanuelle,Tian Guoling,Bahi-Buisson Nadia,Fallet-Bianco Catherine,Phan-Dinh-Tuy Françoise,Kong Xiang Peng,Bomont Pascale,Castelnau-Ptakhine Laëtitia,Odent Sylvie,Loget Philippe,Kossorotoff Manoelle,Snoeck Irina,Plessis Ghislaine,Parent Philippe,Beldjord Cherif,Cardoso Carlos,Represa Alfonso,Flint Jonathan,Keays David Anthony,Cowan Nicholas Justin,Chelly Jamel

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.380.pdf

Reference28 articles.

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2. Keays, D.A. et al. Mutations in α-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Cell 128, 45–57 (2007).

3. Poirier, K. et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin α 1A (TUBA1A). Hum. Mutat. 28, 1055–1064 (2007).

4. Bahi-Buisson, N. et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J. Med. Genet. 45, 647–653 (2008).

5. Li, S. et al. GPR56 regulates pial basement membrane integrity and cortical lamination. J. Neurosci. 28, 5817–5826 (2008).

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