skip to main content
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Resultados 1 2 3 4 5 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
Material Type:
Artigo
Adicionar ao Meu Espaço

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor

Sun, 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-Sha

Brain (London, England : 1878), 2020-01, Vol.143 (1), p.222-233 [Periódico revisado por pares]

England

Texto completo disponível

2
The spiral axis: A comparison of unaffected first-degree relatives of essential tremor cases vs. controls
Material Type:
Artigo
Adicionar ao Meu Espaço

The spiral axis: A comparison of unaffected first-degree relatives of essential tremor cases vs. controls

Louis, Elan D. ; Dowd, Hollie N. ; Elkurd, Mazen

Journal of the neurological sciences, 2021-03, Vol.422, p.117330-117330, Article 117330 [Periódico revisado por pares]

Netherlands: Elsevier B.V

Texto completo disponível

3
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

4
Parkinson Disease Subtypes
Material Type:
Artigo
Adicionar ao Meu Espaço

Parkinson Disease Subtypes

Thenganatt, Mary Ann ; Jankovic, Joseph

JAMA neurology, 2014-04, Vol.71 (4), p.499-504 [Periódico revisado por pares]

United States: American Medical Association

Texto completo disponível

5
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
Material Type:
Artigo
Adicionar ao Meu Espaço

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

Hagerman, Randi, MD ; Hagerman, Paul, Dr

Lancet neurology, 2013-08, Vol.12 (8), p.786-798 [Periódico revisado por pares]

England: Elsevier Ltd

Texto completo disponível

6
CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

7
Fragile X syndrome and associated disorders: Clinical aspects and pathology
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

8
Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder
Material Type:
Artigo
Adicionar ao Meu Espaço

Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder

Chen, Hao ; Lu, Likui ; Wang, Bin ; Hua, Xiaodong ; Wan, Bo ; Sun, Miao ; Xu, Xingshun

Brain (London, England : 1878), 2020-07, Vol.143 (7), p.e56-e56 [Periódico revisado por pares]

England

Texto completo disponível

9
RNA toxicity in non‐coding repeat expansion disorders
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

10
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management
Material Type:
Artigo
Adicionar ao Meu Espaço

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

Texto completo disponível

Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (827)

Data de Publicação 

De até
  1. Antes de1975  (21)
  2. 1975Até1987  (33)
  3. 1988Até1999  (52)
  4. 2000Até2011  (333)
  5. Após 2011  (416)
  6. Mais opções open sub menu

Buscando em bases de dados remotas. Favor aguardar.