Emerging topics in FXTAS

被引:0
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作者
Deborah A Hall
Rachael C Birch
Mathieu Anheim
Aia E Jønch
Elizabeth Pintado
Joanne O’Keefe
Julian N Trollor
Glenn T Stebbins
Randi J Hagerman
Stanley Fahn
Elizabeth Berry-Kravis
Maureen A Leehey
机构
[1] Rush University,Department of Neurological Sciences
[2] School of Psychiatry,Department of Developmental Disability Neuropsychiatry
[3] University of New South Wales,Département de Neurologie
[4] Hôpitaux Universitaires de Strasbourg,Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)
[5] Hôpital de Hautepierre,Fédération de Médecine Translationnelle de Strasbourg (FMTS)
[6] INSERM-U964/CNRS-UMR7104/Université de Strasbourg,Department of clinical Genetics
[7] Université de Strasbourg,Department of Medical Biochemistry and Molecular Biology
[8] Kennedy Center,Department of Anatomy & Cell Biology
[9] Rigshospitalet,Department of Pediatrics & M.I.N.D. Institute
[10] Copenhagen University Hospital,Department of Neurology
[11] University of Seville,Departments of Pediatrics and Biochemistry
[12] Rush University,Department of Neurology
[13] University of California at Davis Medical Center,Centre for Healthy Brain Ageing
[14] Columbia University,undefined
[15] Rush University,undefined
[16] University of Colorado at Denver,undefined
[17] University of New South Wales,undefined
关键词
FXTAS; Premutation; Fragile X; Tremor; Ataxia;
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学科分类号
摘要
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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