DTI tractography of lissencephaly caused by TUBA1A mutation

被引：9
|
作者：
Kamiya, Kouhei [1 ]
Tanaka, Fumine [1 ]
Ikeno, Mitsuru [2 ]
Okumura, Akihisa [2 ]
Aoki, Shigeki [1 ]
机构：
[1] Juntendo Univ, Grad Sch Med, Dept Radiol, Bunkyo Ku, Tokyo 1138421, Japan
[2] Juntendo Univ, Grad Sch Med, Dept Pediat, Bunkyo Ku, Tokyo 1138421, Japan
来源：
NEUROLOGICAL SCIENCES | 2014年 / 35卷 / 05期
关键词：
Fractional Anisotropy; Diffusion Tensor Imaging; Microcephaly; Intractable Epilepsy; Radial Glia;
D O I：
10.1007/s10072-014-1662-3
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：801 / 803
页数：3
相关论文
共 50 条
  • [41] Disruption of Tuba1a leads to neurodegeneration that can be rescued by Mg plus plus .
    Buscaglia, G.
    Aiken, J. E.
    Moore, J. K.
    Bates, E. A.
    MOLECULAR BIOLOGY OF THE CELL, 2017, 28
  • [42] Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
    Wei, Heming
    Krishnappa, Janardhan
    Lin, Grace
    Kavalloor, Nirmal
    Lim, Jiin Ying
    Goh, Chew-Yin Jasmine
    Jamuar, Saumya Shekhar
    Thomas, Terrence
    Tan, Ene Choo
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (03) : 576 - 578
  • [43] Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: A case report
    Shimojima K.
    Narita A.
    Maegaki Y.
    Saito A.
    Furukawa T.
    Yamamoto T.
    BMC Research Notes, 7 (1)
  • [44] Neuropathological phenotype of a new type of lissencephaly associated with mutations of TUBA1A.
    Fallet-Bianco, Catherine
    Loeuillet, Laurence
    Loget, Philippe
    Chapon, Francoise
    Poirier, Karine
    Chelly, Jamel
    Francis, Fiona
    FASEB JOURNAL, 2008, 22
  • [45] Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice
    Ines Leca
    Alexander William Phillips
    Lyubov Ushakova
    Thomas David Cushion
    David Anthony Keays
    Scientific Reports, 13
  • [46] Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior
    Buscaglia, Georgia
    Northington, Kyle R.
    Moore, Jeffrey K.
    Bates, Emily Anne
    ENEURO, 2020, 7 (02)
  • [47] CYTOARCHITECTURAL DISRUPTION OF THE SUPERIOR COLLICULUS AND AN ENLARGED ACOUSTIC STARTLE RESPONSE IN THE Tuba1a MUTANT MOUSE
    Edwards, A.
    Treiber, C. D.
    Breuss, M.
    Pidsley, R.
    Huang, G. -J.
    Cleak, J.
    Oliver, P. L.
    Flint, J.
    Keays, D. A.
    NEUROSCIENCE, 2011, 195 : 191 - 200
  • [48] Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
    Schroeter, Julian
    Popp, Bernt
    Brennenstuhl, Heiko
    Doering, Jan H.
    Donze, Stephany H.
    Bijlsma, Emilia K.
    van Haeringen, Arie
    Huhle, Dagmar
    Jestaedt, Leonie
    Merkenschlager, Andreas
    Arelin, Maria
    Graefe, Daniel
    Neuser, Sonja
    Oates, Stephanie
    Pal, Deb K.
    Parker, Michael J.
    Lemke, Johannes R.
    Hoffmann, Georg F.
    Koelker, Stefan
    Harting, Inga
    Syrbe, Steffen
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (03) : 298 - 306
  • [49] Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies
    Aiken, Jayne
    Buscaglia, Georgia
    Aiken, A. Sophie
    Moore, Jeffrey K.
    Bates, Emily A.
    CYTOSKELETON, 2020, 77 (3-4) : 40 - 54
  • [50] LncRNA TubAR complexes with TUBB4A and TUBA1A to promote microtubule assembly and maintain myelination
    Liang, Xiaolin
    Gong, Meng
    Wang, Zhikai
    Wang, Jie
    Guo, Weiwei
    Cai, Aoling
    Yang, Zhenye
    Liu, Xing
    Xu, Fuqiang
    Xiong, Wei
    Fu, Chuanhai
    Wang, Xiangting
    CELL DISCOVERY, 2024, 10 (01)
12345