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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Author / Creator:Ishiura, Hiroyuki ; Shibata, Shota ; Yoshimura, Jun ; Suzuki, Yuta ; Qu, Wei ; Doi, Koichiro ; Almansour, M. Asem ; Kikuchi, Junko Kanda ; Taira, Makiko ; Mitsui, Jun ; Takahashi, Yuji ; Ichikawa, Yaeko ; Mano, Tatsuo ; Iwata, Atsushi ; Harigaya, Yasuo ; Matsukawa, Miho Kawabe ; Matsukawa, Takashi ; Tanaka, Masaki ; Shirota, Yuichiro ; Ohtomo, Ryo ; Kowa, Hisatomo ; Date, Hidetoshi ; Mitsue, Aki ; Hatsuta, Hiroyuki ; Morimoto, Satoru ; Murayama, Shigeo ; Shiio, Yasushi ; Saito, Yuko ; Mitsutake, Akihiko ; Kawai, Mizuho ; Sasaki, Takuya ; Sugiyama, Yusuke ; Hamada, Masashi ; Ohtomo, Gaku ; Terao, Yasuo ; Nakazato, Yoshihiko ; Takeda, Akitoshi ; Sakiyama, Yoshio ; Umeda-Kameyama, Yumi ; Shinmi, Jun ; Ogata, Katsuhisa ; Kohno, Yutaka ; Lim, Shen-Yang ; Tan, Ai Huey ; Shimizu, Jun ; Goto, Jun ; Nishino, Ichizo ; Toda, Tatsushi ; Morishita, Shinichi ; Tsuji, Shoji
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2019-08, Vol.51 (8), p.1222-1232
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A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
Author / Creator:Kang, Yunhee ; Zhou, Ying ; Li, Yujing ; Han, Yanfei ; Xu, Jie ; Niu, Weibo ; Li, Ziyi ; Liu, Shiying ; Feng, Hao ; Huang, Wen ; Duan, Ranhui ; Xu, Tianmin ; Raj, Nisha ; Zhang, Feiran ; Dou, Juan ; Xu, Chongchong ; Wu, Hao ; Bassell, Gary J. ; Warren, Stephen T. ; Allen, Emily G. ; Jin, Peng ; Wen, Zhexing
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2021-10, Vol.24 (10), p.1377-1391
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The translation of translational control by FMRP: therapeutic targets for FXS
Author / Creator:Darnell, Jennifer C ; Klann, Eric
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2013-11, Vol.16 (11), p.1530-1536
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CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
Author / Creator:Todd, Peter K. ; Oh, Seok Yoon ; Krans, Amy ; He, Fang ; Sellier, Chantal ; Frazer, Michelle ; Renoux, Abigail J. ; Chen, Kai-chun ; Scaglione, K. Matthew ; Basrur, Venkatesha ; Elenitoba-Johnson, Kojo ; Vonsattel, Jean P. ; Louis, Elan D. ; Sutton, Michael A. ; Taylor, J. Paul ; Mills, Ryan E. ; Charlet-Berguerand, Nicholas ; Paulson, Henry L.
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2013-05, Vol.78 (3), p.440-455
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Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
Author / Creator:Hagerman, Randi J. ; Hagerman, Paul
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Neurology, 2016-07, Vol.12 (7), p.403-412
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Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice
Author / Creator:Yan, Jingqi ; Porch, Morgan W. ; Court-Vazquez, Brenda ; Bennett, Michael V. L. ; Zukin, R. Suzanne
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2018-10, Vol.115 (41), p.E9707-E9716
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Fragile X Syndrome: From Molecular Aspect to Clinical Treatment
Author / Creator:Protic, Dragana D. ; Aishworiya, Ramkumar ; Salcedo-Arellano, Maria Jimena ; Tang, Si Jie ; Milisavljevic, Jelena ; Mitrovic, Filip ; Hagerman, Randi J. ; Budimirovic, Dejan B.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-02, Vol.23 (4), p.1935
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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications
Author / Creator:Cabal-Herrera, Ana Maria ; Tassanakijpanich, Nattaporn ; Salcedo-Arellano, Maria Jimena ; Hagerman, Randi J.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-06, Vol.21 (12), p.4391
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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible
Author / Creator:Goel, Anubhuti ; Cantu, Daniel A. ; Guilfoyle, Janna ; Chaudhari, Gunvant R. ; Newadkar, Aditi ; Todisco, Barbara ; de Alba, Diego ; Kourdougli, Nazim ; Schmitt, Lauren M. ; Pedapati, Ernest ; Erickson, Craig A. ; Portera-Cailliau, Carlos
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2018-10, Vol.21 (10), p.1404-1411
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Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours
Author / Creator:Lee, Bumwhee ; Lee, Kunwoo ; Panda, Shree ; Gonzales-Rojas, Rodrigo ; Chong, Anthony ; Bugay, Vladislav ; Park, Hyo Min ; Brenner, Robert ; Murthy, Niren ; Lee, Hye Young
Publisher:London: Nature Publishing Group UK
Journal title:Nature biomedical engineering, 2018-07, Vol.2 (7), p.497-507
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Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome
Author / Creator:Anding, Alexandria ; Ren, Baiyan ; Padmashri, Ragunathan ; Burkovetskaya, Maria ; Dunaevsky, Anna
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-07, Vol.26 (13), p.6510
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Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice
Author / Creator:Bhattacharya, Aditi ; Kaphzan, Hanoch ; Alvarez-Dieppa, Amanda C. ; Murphy, Jaclyn P. ; Pierre, Philippe ; Klann, Eric
Publisher:United States: Elsevier Inc
Journal title:Neuron (Cambridge, Mass.), 2012-10, Vol.76 (2), p.325-337
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Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms
Author / Creator:Hagerman, Paul
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2013-07, Vol.126 (1), p.1-19
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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
Author / Creator:Myrick, Leila K. ; Deng, Pan-Yue ; Hashimoto, Hideharu ; Oh, Young Mi ; Cho, Yongcheol ; Poidevin, Mickael J. ; Suhl, Joshua A. ; Visootsak, Jeannie ; Cavalli, Valeria ; Jin, Peng ; Cheng, Xiaodong ; Warren, Stephen T. ; Klyachko, Vitaly A.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-01, Vol.112 (4), p.949-956
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Tracking the Fragile X Mental Retardation Protein in a Highly Ordered Neuronal RiboNucleoParticles Population: A Link between Stalled Polyribosomes and RNA Granules
Author / Creator:El Fatimy, Rachid ; Davidovic, Laetitia ; Tremblay, Sandra ; Jaglin, Xavier ; Dury, Alain ; Robert, Claude ; De Koninck, Paul ; Khandjian, Edouard W.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-07, Vol.12 (7), p.e1006192
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Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay
Author / Creator:Kurosaki, Tatsuaki ; Imamachi, Naoto ; Pröschel, Christoph ; Mitsutomi, Shuhei ; Nagao, Rina ; Akimitsu, Nobuyoshi ; Maquat, Lynne E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature cell biology, 2021-01, Vol.23 (1), p.40-48
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Altered dendritic spine function and integration in a mouse model of fragile X syndrome
Author / Creator:Booker, Sam A. ; Domanski, Aleksander P. F. ; Dando, Owen R. ; Jackson, Adam D. ; Isaac, John T. R. ; Hardingham, Giles E. ; Wyllie, David J. A. ; Kind, Peter C.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4813-14, Article 4813
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Early social enrichment rescues adult behavioral and brain abnormalities in a mouse model of fragile X syndrome
Author / Creator:Oddi, Diego ; Subashi, Enejda ; Middei, Silvia ; Bellocchio, Luigi ; Lemaire-Mayo, Valerie ; Guzmán, Manuel ; Crusio, Wim E ; D'Amato, Francesca R ; Pietropaolo, Susanna
Publisher:England: Nature Publishing Group
Journal title:Neuropsychopharmacology (New York, N.Y.), 2015-03, Vol.40 (5), p.1113-1122
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Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
Author / Creator:Ronesi, Jennifer A ; Collins, Katie A ; Hays, Seth A ; Tsai, Nien-Pei ; Guo, Weirui ; Birnbaum, Shari G ; Hu, Jia-Hua ; Worley, Paul F ; Gibson, Jay R ; Huber, Kimberly M
Publisher:New York: Nature Publishing Group US
Journal title:Nature neuroscience, 2012-03, Vol.15 (3), p.431-440
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Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish
Author / Creator:Shamay-Ramot, Adi ; Khermesh, Khen ; Porath, Hagit T. ; Barak, Michal ; Pinto, Yishay ; Wachtel, Chaim ; Zilberberg, Alona ; Lerer-Goldshtein, Tali ; Efroni, Sol ; Levanon, Erez Y. ; Appelbaum, Lior
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-12, Vol.11 (12), p.e1005702
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Showing 1 to 20 of 166 results

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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

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The translation of translational control by FMRP: therapeutic targets for FXS

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CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

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Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management

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Activation of autophagy rescues synaptic and cognitive deficits in fragile X mice

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Fragile X Syndrome: From Molecular Aspect to Clinical Treatment

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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications

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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible

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Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours

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Activity of Human-Specific Interlaminar Astrocytes in a Chimeric Mouse Model of Fragile X Syndrome

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Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

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Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

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Tracking the Fragile X Mental Retardation Protein in a Highly Ordered Neuronal RiboNucleoParticles Population: A Link between Stalled Polyribosomes and RNA Granules

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Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay

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Altered dendritic spine function and integration in a mouse model of fragile X syndrome

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Early social enrichment rescues adult behavioral and brain abnormalities in a mouse model of fragile X syndrome

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Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome

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Fmrp Interacts with Adar and Regulates RNA Editing, Synaptic Density and Locomotor Activity in Zebrafish

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