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15.286 articles found

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Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan.

Li Y, Ikeda A, Yoshino H, Oyama G, Kitani M, Daida K, Hayashida A, Ogaki K, Yoshida K, Kimura T, Nakayama Y, Ito H, Sugeno N, Aoki M, Miyajima H, Kimura K, Ueda N, Watanabe M, Urabe T, Takanashi M, Funayama M, Nishioka K, Hattori N.

J Hum Genet · 2020-05-13

DOI: 10.1038/s10038-020-0772-4PMID: 32398759

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ, Wang SG, Guo XN, Tian WT, Zhan FX, Zhu ZY, Yin XM, Liu Q, Yin KL, Liu XR, Zhang Y, Liu ZG, Liu XL, Zheng L, Wang T, Wu L, Rong TY, Wang Y, Zhang M, Bi GH, Tang WG, Zhang C, Zhong P, Wang CY, Tang JG, Lu W, Zhang RX, Zhao GH, Li XH, Li H, Chen T, Li HY, Luo XG, Song YY, Tang HD, Luan XH, Zhou HY, Tang BS, Chen SD, Cao L.

Mov Disord · 2020-05-11

DOI: 10.1002/mds.28061PMID: 32392383

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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Intramitochondrial proteostasis is directly coupled to α-synuclein and amyloid β1-42 pathologies.

Lautenschläger J, Wagner-Valladolid S, Stephens AD, Fernández-Villegas A, Hockings C, Mishra A, Manton JD, Fantham MJ, Lu M, Rees EJ, Kaminski CF, Kaminski Schierle GS.

J Biol Chem · 2020-05-08

DOI: 10.1074/jbc.ra119.011650PMID: 32385113

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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