Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremorSun, Qi-Ying ; Xu, Qian ; Tian, Yun ; Hu, Zheng-Mao ; Qin, Li-Xia ; Yang, Jin-Xia ; Huang, Wen ; Xue, Jin ; Li, Jin-Chen ; Zeng, Sheng ; Wang, Ying ; Min, Hao-Xuan ; Chen, Xiao-Yu ; Wang, Jun-Pu ; Xie, Bin ; Liang, Fan ; Zhang, Hai-Nan ; Wang, Chun-Yu ; Lei, Li-Fang ; Yan, Xin-Xiang ; Xu, Hong-Wei ; Duan, Ran-Hui ; Xia, Kun ; Liu, Jing-Yu ; Jiang, Hong ; Shen, Lu ; Guo, Ji-Feng ; Tang, Bei-ShaBrain (London, England : 1878), 2020-01, Vol.143 (1), p.222-233 [Periódico revisado por pares]EnglandTexto completo disponível |
|
2 |
Material Type: Artigo
|
The spiral axis: A comparison of unaffected first-degree relatives of essential tremor cases vs. controlsLouis, Elan D. ; Dowd, Hollie N. ; Elkurd, MazenJournal of the neurological sciences, 2021-03, Vol.422, p.117330-117330, Article 117330 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
|
3 |
Material Type: Artigo
|
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping diseaseIshiura, 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, ShojiNature genetics, 2019-08, Vol.51 (8), p.1222-1232 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
|
4 |
Material Type: Artigo
|
Parkinson Disease SubtypesThenganatt, Mary Ann ; Jankovic, JosephJAMA neurology, 2014-04, Vol.71 (4), p.499-504 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
|
5 |
Material Type: Artigo
|
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndromeHagerman, Randi, MD ; Hagerman, Paul, DrLancet neurology, 2013-08, Vol.12 (8), p.786-798 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
|
6 |
Material Type: Artigo
|
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia SyndromeTodd, 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 IncTexto completo disponível |
|
7 |
Material Type: Artigo
|
Fragile X syndrome and associated disorders: Clinical aspects and pathologySalcedo-Arellano, Maria Jimena ; Dufour, Brett ; McLennan, Yingratana ; Martinez-Cerdeno, Veronica ; Hagerman, RandiNeurobiology of disease, 2020-03, Vol.136, p.104740-104740, Article 104740 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
8 |
Material Type: Artigo
|
Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorderChen, Hao ; Lu, Likui ; Wang, Bin ; Hua, Xiaodong ; Wan, Bo ; Sun, Miao ; Xu, XingshunBrain (London, England : 1878), 2020-07, Vol.143 (7), p.e56-e56 [Periódico revisado por pares]EnglandTexto completo disponível |
|
9 |
Material Type: Artigo
|
RNA toxicity in non‐coding repeat expansion disordersSwinnen, Bart ; Robberecht, Wim ; Van Den Bosch, LudoThe EMBO journal, 2020-01, Vol.39 (1), p.e101112-n/a [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
|
10 |
Material Type: Artigo
|
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and managementHagerman, Randi J ; Hagerman, PaulNature reviews. Neurology, 2016-07, Vol.12 (7), p.403-412 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |