Zhang R - Search Results

1

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.

2

[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Long ZG, Hu ZM, Li XB. Zhang RX, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Jun;21(3):207-10. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004. PMID: 15192818 Chinese.

3

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.

Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP. Tang BS, et al. Hum Genet. 2005 Feb;116(3):222-4. doi: 10.1007/s00439-004-1218-3. Epub 2004 Nov 23. Hum Genet. 2005. PMID: 15565283

4

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].

Liu XM, Tang BS, Zhao GH, Xia K, Zhang FF, Pan Q, Cai F, Hu ZM, Zhang C, Chen B, Shen L, Zhang RX, Jiang H. Liu XM, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):510-3. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 16215937 Chinese.

5

[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].

Zhang FF, Tang BS, Shen Y, Zhao GH, Xia K, Zhao YQ, Chen B, Zhang C, Pan Q, Cai F, Liu XM, Luo W, Zhang RX, Guo P. Zhang FF, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):537-40. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005. PMID: 16215943 Chinese.

6

[Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease].

Guo P, Tang BS, Zhao GH, Liu XM, Zhang FF, Zhang RX, Shen L, Jiang H, Liang JH. Guo P, et al. Zhonghua Yi Xue Za Zhi. 2005 Sep 7;85(34):2382-5. Zhonghua Yi Xue Za Zhi. 2005. PMID: 16321242 Chinese.

7

[The wild-type alpha-synuclein over-expression to induce the protein aberrant aggregation of alpha-synuclein in HEK293 cells in vitro].

Chen T, Tang BS, Liao XP, Yan XX, Zhang RX, Zhang YH, Tang JG, Cao L, Guo JF, Li J. Chen T, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Feb;23(1):19-22. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 16456779 Chinese.

8

[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].

Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Hu ZM, Zhao GH, Guo K. Zhang RX, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):189-91. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 16604494 Chinese.

9

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

Zhang RX, Tang BS, Zi XH, Xia K, Pan Q, Zhang FF, Li SJ, Zhao GH, Guo K. Zhang RX, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):601-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 17160934 Chinese.

10

[Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease].

Zhang RX, Tang BS. Zhang RX, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):553-7. doi: 10.3760/cma.j.issn.1003-9406.2012.05.011. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 23042392 Review. Chinese.

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