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Research ArticlePediatrics
Open Access

Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome

T. Wada, H. Ban, M. Matsufuji, N. Okamoto, K. Enomoto, K. Kurosawa and N. Aida
American Journal of Neuroradiology October 2013, 34 (10) 2034-2038; DOI: https://doi.org/10.3174/ajnr.A3560
T. Wada
aFrom the Divisions of Neurology (T.W.)
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H. Ban
dDepartment of Pediatrics (H.B.), Himeji Red Cross Hospital, Himeji, Japan
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M. Matsufuji
eDepartment of Pediatrics (M.M.), Yanagawa Institute for Developmental Disabilities, Yanagawa, Japan
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N. Okamoto
fDepartment of Molecular Medicine (N.O.), Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
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K. Enomoto
bGenetics (K.E., K.K.)
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K. Kurosawa
bGenetics (K.E., K.K.)
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N. Aida
cRadiology (N.A.), Kanagawa Children's Medical Center, Yokohama, Japan
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    • Online Table (PDF) - Summary of abnormal brain CT/MRI findings in 30 patients with ATR-X syndrome
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American Journal of Neuroradiology: 34 (10)
American Journal of Neuroradiology
Vol. 34, Issue 10
1 Oct 2013
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Cite this article
T. Wada, H. Ban, M. Matsufuji, N. Okamoto, K. Enomoto, K. Kurosawa, N. Aida
Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome
American Journal of Neuroradiology Oct 2013, 34 (10) 2034-2038; DOI: 10.3174/ajnr.A3560

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Neuroradiologic Features in X-linked α-Thalassemia/Mental Retardation Syndrome
T. Wada, H. Ban, M. Matsufuji, N. Okamoto, K. Enomoto, K. Kurosawa, N. Aida
American Journal of Neuroradiology Oct 2013, 34 (10) 2034-2038; DOI: 10.3174/ajnr.A3560
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  • A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects
  • Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination
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  • Glial ensheathment of the somatodendritic compartment regulates sensory neuron structure and activity
    Smita Yadav, Susan H. Younger, Linghua Zhang, Katherine L. Thompson-Peer, Tun Li, Lily Y. Jan, Yuh Nung Jan
    Proceedings of the National Academy of Sciences 2019 116 11
  • Effect of ATRX and G‐Quadruplex Formation by the VNTR Sequence on α‐Globin Gene Expression
    Yue Li, Junetha Syed, Yuki Suzuki, Sefan Asamitsu, Norifumi Shioda, Takahito Wada, Hiroshi Sugiyama
    ChemBioChem 2016 17 10
  • Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation
    Jin Sook Lee, Sangmoon Lee, Byung Chan Lim, Ki Joong Kim, Yong Seung Hwang, Murim Choi, Jong-Hee Chae
    Gene 2015 569 2
  • Neurodevelopmental Disorders Caused by Defective Chromatin Remodeling: Phenotypic Complexity Is Highlighted by a Review of ATRX Function
    Sara Timpano, David J. Picketts
    Frontiers in Genetics 2020 11
  • Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
    Jonas Straub, Anne Gregor, Tatjana Sauerer, Anna Fliedner, Laila Distel, Christine Suchy, Arif B. Ekici, Fulvia Ferrazzi, Christiane Zweier
    Scientific Reports 2020 10 1
  • Thalassemia and risk of dementia: A nationwide population-based retrospective cohort study
    Yu-Guang Chen, Te-Yu Lin, Hsuan-Ju Chen, Ming-Shen Dai, Ching-Liang Ho, Chia-Hung Kao
    European Journal of Internal Medicine 2015 26 7
  • Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review
    Matthias W. Wagner, Andrea Poretti, Jane E. Benson, Thierry A. G. M. Huisman
    Journal of Neuroimaging 2017 27 2
  • Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
    Kao-Jung Chang, Hsin-Yu Wu, Aliaksandr Yarmishyn, Cheng-Yi Li, Yu-Jer Hsiao, Yi-Chun Chi, Tzu-Chen Lo, He-Jhen Dai, Yi-Chiang Yang, Ding-Hao Liu, De-Kuang Hwang, Shih-Jen Chen, Chih-Chien Hsu, Chung-Lan Kao
    International Journal of Molecular Sciences 2022 23 17
  • The value of genome-wide analysis in craniosynostosis
    Alexandra Topa, Anna Rohlin, André Fehr, Lovisa Lovmar, Göran Stenman, Peter Tarnow, Giovanni Maltese, Madiha Bhatti-Søfteland, Lars Kölby
    Frontiers in Genetics 2024 14

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