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1
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
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Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

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

Nature genetics, 2019-08, Vol.51 (8), p.1222-1232 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
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A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

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

Nature neuroscience, 2021-10, Vol.24 (10), p.1377-1391 [Periódico revisado por pares]

United States: Nature Publishing Group

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3
The translation of translational control by FMRP: therapeutic targets for FXS
The translation of translational control by FMRP: therapeutic targets for FXS
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The translation of translational control by FMRP: therapeutic targets for FXS

Darnell, Jennifer C ; Klann, Eric

Nature neuroscience, 2013-11, Vol.16 (11), p.1530-1536 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
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CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

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.

Neuron (Cambridge, Mass.), 2013-05, Vol.78 (3), p.440-455 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Fragile X syndrome and associated disorders: Clinical aspects and pathology
Fragile X syndrome and associated disorders: Clinical aspects and pathology
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Fragile X syndrome and associated disorders: Clinical aspects and pathology

Salcedo-Arellano, Maria Jimena ; Dufour, Brett ; McLennan, Yingratana ; Martinez-Cerdeno, Veronica ; Hagerman, Randi

Neurobiology of disease, 2020-03, Vol.136, p.104740-104740, Article 104740 [Periódico revisado por pares]

United States: Elsevier Inc

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6
RNA toxicity in non‐coding repeat expansion disorders
RNA toxicity in non‐coding repeat expansion disorders
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RNA toxicity in non‐coding repeat expansion disorders

Swinnen, Bart ; Robberecht, Wim ; Van Den Bosch, Ludo

The EMBO journal, 2020-01, Vol.39 (1), p.e101112-n/a [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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7
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management
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Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management

Hagerman, Randi J ; Hagerman, Paul

Nature reviews. Neurology, 2016-07, Vol.12 (7), p.403-412 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model
Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model
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Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model

Sidhu, Harpreet ; Dansie, Lorraine E ; Hickmott, Peter W ; Ethell, Douglas W ; Ethell, Iryna M

The Journal of neuroscience, 2014-07, Vol.34 (30), p.9867-9879 [Periódico revisado por pares]

United States: Society for Neuroscience

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9
The trouble with spines in fragile X syndrome: density, maturity and plasticity
The trouble with spines in fragile X syndrome: density, maturity and plasticity
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The trouble with spines in fragile X syndrome: density, maturity and plasticity

He, C.X ; Portera-Cailliau, C

Neuroscience, 2013-10, Vol.251, p.120-128 [Periódico revisado por pares]

United States: Elsevier Ltd

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10
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions

Zhou, Zhi-Dong ; Jankovic, Joseph ; Ashizawa, Tetsuo ; Tan, Eng-King

Nature reviews. Neurology, 2022-03, Vol.18 (3), p.145-157 [Periódico revisado por pares]

England

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