FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

Ronald AM Buijsen; Chantal Sellier; Lies-Anne WFM Severijnen; Mustapha Oulad-Abdelghani; Rob FM Verhagen; Robert F Berman; Nicolas Charlet-Berguerand; Rob Willemsen; Renate K Hukema

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FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

机译：易碎的X相关震颤/共济失调综合征的易碎X预突变携带者中枢神经系统和非中枢神经器官的FMRpolyG阳性包涵体

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《Acta Neuropathologica Communications》 |2014年第1期|共页
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Ronald AM Buijsen; Chantal Sellier; Lies-Anne WFM Severijnen; Mustapha Oulad-Abdelghani; Rob FM Verhagen; Robert F Berman; Nicolas Charlet-Berguerand; Rob Willemsen; Renate K Hukema;
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中图分类神经病学与精神病学;
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1. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. [J] . Hantash FM, Goos DM, Crossley B, Genetics in medicine . 2011,第1期

机译：接受常规人群基础载体筛查的患者中FMR1突变的载频：对脆性X综合征，脆性X相关性震颤/共济失调和脆性X相关性卵巢原发性供血不足的见解。
2. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. [J] . Hunsaker MR, Greco CM, Spath MA, Acta Neuropathologica . 2011,第4期

机译：易碎X相关震颤/共济失调综合征和CGG敲入小鼠的易碎X预突变携带者中广泛的非中枢神经系统器官病理学。
3. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice [J] . Michael R. Hunsaker, Claudia M. Greco, Marian A. Spath, Acta Neuropathologica . 2011,第4期

机译：脆性X相关震颤/共济失调综合征和CGG敲入小鼠的脆性X预突变携带者中广泛的非中枢神经系统器官病理
4. Decreased Theta Power Reflects Disruption in Postural Control Networks of Fragile X Premutation Carriers* [C] . Clodagh O’Keeffe, Manuel Carro Domínguez, Eugene O’Rourke, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2020

机译：Theta功率降低反映了脆弱的X预突变载体的姿势控制网络中的干扰*
5. Molecular Analyses of Fragile X-associated Tremor/Ataxia Syndrome Inclusions [D] . Ma, Lisa . 2019

机译：脆弱的X相关震颤/共济失调综合征夹杂物的分子分析
6. FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome [O] . Ronald AM Buijsen, Chantal Sellier, Lies-Anne WFM Severijnen, 2014

机译：易碎的X相关震颤/共济失调的易碎X预突变携带者中枢神经系统和非中枢神经器官的FMRpolyG阳性包涵体
7. FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome [O] . Ronald AM Buijsen, Chantal Sellier, Lies-Anne WFM Severijnen, 2014

机译：易碎的X相关震颤/共济失调的易碎X预突变携带者中枢神经系统和非中枢神经器官的FMRpolyG阳性包涵体

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome

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