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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 2
2005 9
2006 3
2009 1
2010 1
2011 2
2012 3
2013 1
2014 2
2015 2
2016 3
2017 1
2018 4
2019 3
2020 6
2021 6
2022 4
2023 11
2024 4

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62 results

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Page 1
Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.
Cao L, Huang X, Wang N, Wu Z, Zhang C, Gu W, Cong S, Ma J, Wei L, Deng Y, Fang Q, Niu Q, Wang J, Wang Z, Yin Y, Tian J, Tian S, Bi H, Jiang H, Liu X, Lü Y, Sun M, Wu J, Xu E, Chen T, Chen T, Chen X, Li W, Li S, Li Q, Song X, Tang Y, Yang P, Yang Y, Zhang M, Zhang X, Zhang Y, Zhang R, Ouyang Y, Yu J, Hu Q, Ke Q, Yao Y, Zhao Z, Zhao X, Zhao G, Liang F, Cheng N, Han J, Peng R, Chen S, Tang B. Cao L, et al. Among authors: zhang r. Transl Neurodegener. 2021 Feb 16;10(1):7. doi: 10.1186/s40035-021-00231-8. Transl Neurodegener. 2021. PMID: 33588936 Free PMC article. Review.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: zhang r. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Intermediate Charcot-Marie-Tooth disease.
Liu L, Zhang R. Liu L, et al. Among authors: zhang r. Neurosci Bull. 2014 Dec;30(6):999-1009. doi: 10.1007/s12264-014-1475-7. Epub 2014 Oct 17. Neurosci Bull. 2014. PMID: 25326399 Free PMC article. Review.
SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
Lone MA, Zeng S, Bourquin F, Wang M, Huang S, Lin Z, Tang B, Zhang R, Hornemann T. Lone MA, et al. Among authors: zhang r. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Sep;1868(9):159359. doi: 10.1016/j.bbalip.2023.159359. Epub 2023 Jun 20. Biochim Biophys Acta Mol Cell Biol Lipids. 2023. PMID: 37348646
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
He J, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS, Chen WJ. He J, et al. Ann Neurol. 2023 Feb;93(2):244-256. doi: 10.1002/ana.26501. Epub 2022 Sep 28. Ann Neurol. 2023. PMID: 36088542
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.
Tian Y, Hou X, Cao W, Zhou L, Jiao B, Zhang S, Xiao Q, Xue J, Wang Y, Weng L, Fang L, Yang H, Zhou Y, Yi F, Chen X, Du J, Xu Q, Feng L, Liu Z, Zeng S, Sun Q, Xie N, Luo M, Wang M, Zhang M, Zeng Q, Huang S, Yao L, Hu Y, Long H, Xie Y, Chen S, Huang Q, Wang J, Xie B, Zhou L, Long L, Guo J, Wang J, Yan X, Jiang H, Xu H, Duan R, Tang B, Zhang R, Shen L. Tian Y, et al. Among authors: zhang r. J Peripher Nerv Syst. 2023 Dec;28(4):629-641. doi: 10.1111/jns.12599. Epub 2023 Oct 3. J Peripher Nerv Syst. 2023. PMID: 37749855 Review.
62 results