Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype-Reference-Cited by-同舟云学术

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Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

Published:2010-04-08 Issue:6 Volume:119 Page:779-789
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Lecourtois Magalie,Poirier Karine,Friocourt Gaëlle,Jaglin Xavier,Goldenberg Alice,Saugier-Veber Pascale,Chelly Jamel,Laquerrière Annie

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-010-0684-z.pdf

Reference37 articles.

1. Abuhatzira L, Shemer R, Razin A (2009) MeCP2 involvement in the regulation of neuronal alpha-tubulin production. Hum Mol Genet 18:1415–1423

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

3. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB (2005) A developmental and genetic classification for malformations of cortical development. Neurology 65:1873–1887

4. Berry-Kravis E, Israel J (1994) X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol 36:229–233

5. Bonneau D, Toutain A, Laquerrière A et al (2002) X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 51:340–349

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