Hukema Renate K相关文献与解析，生知库 | 链接生命科学的每一步

Dijkstra, Anke A; Haify, Saif N; Verwey, Niek A; Prins, Niels D; van der Toorn, Esmay C; Rozemuller, Annemieke J M; Bugiani, Marianna; den Dunnen, Wilfred F A; Todd, Peter K; Charlet-Berguerand, Nicolas; Willemsen, Rob; Hukema, Renate K; Hoozemans, Jeroen J M

发表日期：2021

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Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

小分子 1a 可降低 FMRpolyG 介导的 FMR1 前突变体外和体内模型的毒性

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/ddab143

Haify Saif N, Buijsen Ronald A M, Verwegen Lucas, Severijnen Lies-Anne W F M, de Boer Helen, Boumeester Valerie, Monshouwer Roos, Yang Wang-Yong, Cameron Michael D, Willemsen Rob, Disney Matthew D, Hukema Renate K

毒理研究

发表日期：2021

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Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

在FXTAS模型中，降低Fmr1 mRNA水平可挽救皮层神经元的病理特征。

期刊:Molecular Therapy-Nucleic Acids

影响因子:6.1

doi:10.1016/j.omtn.2019.09.018

Drozd, Malgorzata; Delhaye, Sébastien; Maurin, Thomas; Castagnola, Sara; Grossi, Mauro; Brau, Frédéric; Jarjat, Marielle; Willemsen, Rob; Capovilla, Maria; Hukema, Renate K; Lalli, Enzo; Bardoni, Barbara

神经科学

发表日期：2019

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Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model

巴氯芬对脆性X综合征小鼠模型社会行为的矛盾效应

期刊:Brain and Behavior

影响因子:2.7

doi:10.1002/brb3.991

Zeidler, Shimriet; Pop, Andreea S; Jaafar, Israa A; de Boer, Helen; Buijsen, Ronald A M; de Esch, Celine E F; Nieuwenhuizen-Bakker, Ingeborg; Hukema, Renate K; Willemsen, Rob

发表日期：2018

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Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously

脆性X综合征的联合治疗：同时靶向mGluR5和GABA通路的可能性和陷阱

期刊:Frontiers in Molecular Neuroscience

影响因子:3.8

doi:10.3389/fnmol.2017.00368

Zeidler, Shimriet; de Boer, Helen; Hukema, Renate K; Willemsen, Rob

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

在脆性X染色体相关震颤/共济失调综合征的前突变90CGG小鼠模型中，选择性地缓解了焦虑加剧，但并未缓解步态共济失调。

期刊:Human Molecular Genetics

影响因子:3.2

doi:10.1093/hmg/ddx108

Castro, Hoanna; Kul, Emre; Buijsen, Ronald A M; Severijnen, Lies-Anne W F M; Willemsen, Rob; Hukema, Renate K; Stork, Oliver; Santos, Mónica

发表日期：2017

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Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

撤稿声明：一种新的可诱导转基因小鼠模型用于研究C9orf72相关GGGGCC重复序列扩增，该模型支持C9orf72相关ALS和FTD中的功能获得性机制。

期刊:Acta Neuropathologica Communications

影响因子:5.7

doi:10.1186/s40478-016-0401-9

Hukema, Renate K; Riemslagh, Fréderike W; Melhem, Shamiram; van der Linde, Herma C; Severijnen, Lies-Anne W F M; Edbauer, Dieter; Maas, Alex; Charlet-Berguerand, Nicolas; Willemsen, Rob; van Swieten, John C

ALS

发表日期：2016

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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

在一名脆性X染色体前突变携带者（伴有脆性X染色体相关震颤/共济失调综合征）的中枢神经系统和非中枢神经系统器官中发现FMRpolyG阳性包涵体。

期刊:Acta Neuropathologica Communications

影响因子:5.7

doi:10.1186/s40478-014-0162-2

Buijsen, Ronald A M; Sellier, Chantal; Severijnen, Lies-Anne W F M; Oulad-Abdelghani, Mustapha; Verhagen, Rob F M; Berman, Robert F; Charlet-Berguerand, Nicolas; Willemsen, Rob; Hukema, Renate K

神经科学

发表日期：2014

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A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

一种新型的C9orf72相关GGGGCC重复序列扩增的诱导型转基因小鼠模型，支持C9orf72相关ALS和FTD中的功能获得性机制。

期刊:Acta Neuropathologica Communications

影响因子:5.7

doi:10.1186/s40478-014-0166-y

Hukema, Renate K; Riemslagh, Fréderike W; Melhem, Shamiram; van der Linde, Herma C; Severijnen, Lies-Anne Wfm; Edbauer, Dieter; Maas, Alex; Charlet-Berguerand, Nicolas; Willemsen, Rob; van Swieten, John C

ALS

发表日期：2014

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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

脆性X染色体前突变和脆性X染色体相关震颤/共济失调综合征的小鼠模型

期刊:Journal of Neurodevelopmental Disorders

影响因子:4

doi:10.1186/1866-1955-6-25

Berman, Robert F; Buijsen, Ronald Am; Usdin, Karen; Pintado, Elizabeth; Kooy, Frank; Pretto, Dalyir; Pessah, Isaac N; Nelson, David L; Zalewski, Zachary; Charlet-Bergeurand, Nicholas; Willemsen, Rob; Hukema, Renate K

Mouse

发表日期：2014

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Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms

FMR1基因前突变携带者出现痴呆和神经精神症状的神经病理学研究

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

小分子 1a 可降低 FMRpolyG 介导的 FMR1 前突变体外和体内模型的毒性

Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS

在FXTAS模型中，降低Fmr1 mRNA水平可挽救皮层神经元的病理特征。

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model

巴氯芬对脆性X综合征小鼠模型社会行为的矛盾效应

Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously

脆性X综合征的联合治疗：同时靶向mGluR5和GABA通路的可能性和陷阱

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome

在脆性X染色体相关震颤/共济失调综合征的前突变90CGG小鼠模型中，选择性地缓解了焦虑加剧，但并未缓解步态共济失调。

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

撤稿声明：一种新的可诱导转基因小鼠模型用于研究C9orf72相关GGGGCC重复序列扩增，该模型支持C9orf72相关ALS和FTD中的功能获得性机制。

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

在一名脆性X染色体前突变携带者（伴有脆性X染色体相关震颤/共济失调综合征）的中枢神经系统和非中枢神经系统器官中发现FMRpolyG阳性包涵体。

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

一种新型的C9orf72相关GGGGCC重复序列扩增的诱导型转基因小鼠模型，支持C9orf72相关ALS和FTD中的功能获得性机制。

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

脆性X染色体前突变和脆性X染色体相关震颤/共济失调综合征的小鼠模型