Emerging topics in FXTAS

被引：73

作者：

Hall, Deborah A. ^{[1
]}

Birch, Rachael C. ^{[2
]}

Anheim, Mathieu ^{[3
,4
,5
]}

Jonch, Aia E. ^{[6
]}

Pintado, Elizabeth ^{[7
]}

O'Keefe, Joanne ^{[8
]}

Trollor, Julian N. ^{[2
,15
]}

Stebbins, Glenn T. ^{[1
]}

Hagerman, Randi J. ^{[9
,10
]}

Fahn, Stanley ^{[11
]}

Berry-Kravis, Elizabeth ^{[1
,12
,13
]}

Leehey, Maureen A. ^{[14
]}

机构：

[1] Rush Univ, Dept Neurol Sci, Chicago, IL 60612 USA

[2] Univ New S Wales, Dept Dev Disabil Neuropsychiat, Sch Psychiat, Sydney, NSW, Australia

[3] Hop Hautepierre, Hop Univ Strasbourg, Dept Neurol, F-67098 Strasbourg, France

[4] Univ Strasbourg, IGBMC, INSERM, U964,CNRS,UMR7104, F-67404 Illkirch Graffenstaden, France

[5] Univ Strasbourg, FMTS, Strasbourg, France

[6] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Kennedy Ctr, Copenhagen, Denmark

[7] Univ Seville, Dept Med Biochem & Mol Biol, Seville, Spain

[8] Rush Univ, Dept Anat & Cell Biol, Chicago, IL 60612 USA

[9] Univ Calif Davis, Med Ctr, Dept Pediat, Sacramento, CA 95817 USA

[10] Univ Calif Davis, Med Ctr, MIND Inst, Sacramento, CA 95817 USA

[11] Columbia Univ, Dept Neurol, New York, NY USA

[12] Rush Univ, Dept Pediat, Chicago, IL 60612 USA

[13] Rush Univ, Dept Biochem, Chicago, IL 60612 USA

[14] Univ Colorado, Dept Neurol, Denver, CO 80202 USA

[15] Univ New S Wales, Ctr Hlth Brain Ageing, Sydney, NSW, Australia

来源：

JOURNAL OF NEURODEVELOPMENTAL DISORDERS | 2014年 / 6卷

关键词：

FMR1; FXTAS; Premutation; Fragile X; Tremor; Ataxia; FRAGILE-X PREMUTATION; TREMOR/ATAXIA SYNDROME FXTAS; FMR1; MESSENGER-RNA; ELEVATED LEVELS; FULL MUTATION; MALE CARRIER; MALES; DISORDERS; PHENOTYPE; DEMENTIA;

D O I：

10.1186/1866-1955-6-31

中图分类号：

R74 [神经病学与精神病学];

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.

引用

页数：10

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