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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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