Emerging topics in FXTAS
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  • 作者：Deborah A Hall (1)
    Rachael C Birch (2)
    Mathieu Anheim (3) (4) (5)
    Aia E J酶nch (6)
    Elizabeth Pintado (7)
    Joanne O鈥橩eefe (8)
    Julian N Trollor (13) (2)
    Glenn T Stebbins (1)
    Randi J Hagerman (9)
    Stanley Fahn (10)
    Elizabeth Berry-Kravis (1) (11)
    Maureen A Leehey (12)

    1. Department of Neurological Sciences     ; Rush University ; Chicago ; IL ; USA
    2. Department of Developmental Disability Neuropsychiatry     ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
    3. D茅partement de Neurologie     ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; 67098 ; Strasbourg ; Cedex ; France
    4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC)     ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; 67404 ; Illkirch ; France
    5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS)     ; Universit茅 de Strasbourg ; Strasbourg ; France
    6. Department of clinical Genetics     ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
    7. Department of Medical Biochemistry and Molecular Biology     ; University of Seville ; Sevilla ; Spain
    8. Department of Anatomy & Cell Biology     ; Rush University ; Chicago ; IL ; USA
    13. Centre for Healthy Brain Ageing     ; University of New South Wales ; Sydney ; Australia
    9. Department of Pediatrics & M.I.N.D. Institute     ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
    10. Department of Neurology     ; Columbia University ; New York ; NY ; USA
    11. Departments of Pediatrics and Biochemistry     ; Rush University ; Chicago ; IL ; USA
    12. Department of Neurology     ; University of Colorado at Denver ; Denver ; CO ; USA
  • 关键词：FMR1 ; FXTAS ; Premutation ; Fragile X ; Tremor ; Ataxia
  • 刊名：Journal of Neurodevelopmental Disorders
  • 出版年：2014
  • 出版时间：December 2014
  • 年：2014
  • 卷：6
  • 期：1
  • 全文大小：1,752 KB
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  • 刊物主题：Neurosciences; Neurobiology; Neuropsychology; Psychiatry; Human Genetics; Pediatrics;
  • 出版者：BioMed Central
  • ISSN：1866-1955
文摘
This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

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