Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes-Reference-Cited by-同舟云学术

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Published:2015-06-30 Issue:18 Volume:24 Page:5313-5325
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Oegema Renske,Cushion Thomas D.,Phelps Ian G.,Chung Seo-Kyung,Dempsey Jennifer C.,Collins Sarah,Mullins Jonathan G.L.,Dudding Tracy,Gill Harinder,Green Andrew J.,Dobyns William B.,Ishak Gisele E.,Rees Mark I.,Doherty Dan

Funder

National Institute of Social Care and Health Research

NISCHR

Epilepsy Research UK

ERUK

Waterloo Foundation

Dutch Human Genetics Society (NVHG)

University of Washington Pediatrics Department

University of Washington Intellectual and Developmental Disabilities Research Center Genetics Core

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/18/5313/2016079/ddv250.pdf

Reference31 articles.

1. Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans

2. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

3. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

4. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

5. TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria

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