A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia-Reference-Cited by-同舟云学术

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A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia

Published:2016-01-06 Issue:4 Volume:170 Page:1076-1079
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shimojima Keiko¹²,Okamoto Nobuhiko³,Yamamoto Toshiyuki²

Affiliation:

1. Precursory Research for Embryonic Science and Technology (PRESTO)Japan Science and Technology Agency (JST)KawaguchiJapan

2. Tokyo Women's Medical University Institute for Integrated Medical SciencesTokyoJapan

3. Department of Medical GeneticsOsaka Medical Center and Research Institute for Maternal and Child HealthOsakaJapan

Funder

Japan Science and Technology Agency

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37545

Reference15 articles.

1. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

2. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

3. Evidence of an Asymmetrical Endophenotype in Congenital Fibrosis of Extraocular Muscles Type 3 Resulting fromTUBB3Mutations

4. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

5. A family with axonal sensorimotor polyneuropathy with TUBB3 mutation

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1. Exome-wide analysis implicates rare protein-altering variants in human handedness;Nature Communications;2024-04-02

2. TUBB3 and KIF21A in neurodevelopment and disease;Frontiers in Neuroscience;2023-08-04

3. Exome-wide analysis implicates rare protein-altering variants in human handedness;2023-06-01

4. Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development;Molecular Neurobiology;2023-03-21

5. The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission;Epilepsia;2022-06-15

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