Hong D - Search Results

1

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

Wang Z, Yuan Y, Zhang W, Lv H, Hong D, Chen B, Liu Y, Luan X, Xie S, Wu S. Wang Z, et al. Among authors: hong d. J Neurol Neurosurg Psychiatry. 2011 May;82(5):534-9. doi: 10.1136/jnnp.2010.209247. Epub 2010 Oct 9. J Neurol Neurosurg Psychiatry. 2011. PMID: 20935329

2

Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.

Hong D, Bi H, Yao S, Wang Z, Yuan Y. Hong D, et al. Muscle Nerve. 2010 Jan;41(1):92-9. doi: 10.1002/mus.21439. Muscle Nerve. 2010. PMID: 19705478

3

[Expressions of PDCD5 and other apoptosis-related proteins in muscle of patients with mitochondrial cytopathy].

Li YF, Wang ZX, Gao XG, Hong DJ, Yuan Y. Li YF, et al. Zhonghua Yi Xue Za Zhi. 2009 Jun 16;89(23):1593-6. Zhonghua Yi Xue Za Zhi. 2009. PMID: 19957502 Chinese.

4

Novel human pathological mutations. Gene symbol: SCN4A. Disease: Periodic paralysis.

Hong D, Luan X, Chen B, Zheng R, Wang Z, Yuan Y. Hong D, et al. Hum Genet. 2010 Jan;127(1):113. Hum Genet. 2010. PMID: 20108424 No abstract available.

5

A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.

Luan X, Hong D, Zhang W, Wang Z, Yuan Y. Luan X, et al. Among authors: hong d. Neuromuscul Disord. 2010 Jun;20(6):390-6. doi: 10.1016/j.nmd.2010.03.009. Epub 2010 Apr 22. Neuromuscul Disord. 2010. PMID: 20417099

6

Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.

Hong D, Luan X, Chen B, Zheng R, Zhang W, Wang Z, Yuan Y. Hong D, et al. J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):703-4. doi: 10.1136/jnnp.2009.177451. J Neurol Neurosurg Psychiatry. 2010. PMID: 20522878 No abstract available.

7

[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].

Hong DJ, Zhang W, Jiang TY, Feng L, Wang ZX, Yuan Y. Hong DJ, et al. Zhonghua Xin Xue Guan Bing Za Zhi. 2010 May;38(5):420-4. Zhonghua Xin Xue Guan Bing Za Zhi. 2010. PMID: 20654101 Chinese.

8

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.

Hong D, Wang Z, Zhang W, Xi J, Lu J, Luan X, Yuan Y. Hong D, et al. Neuropathol Appl Neurobiol. 2011 Apr;37(3):257-70. doi: 10.1111/j.1365-2990.2010.01112.x. Neuropathol Appl Neurobiol. 2011. PMID: 20696008

9

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.

Chen J, Hong D, Wang Z, Yuan Y. Chen J, et al. Among authors: hong d. Clin Neuropathol. 2010 Nov-Dec;29(6):351-6. doi: 10.5414/npp29351. Clin Neuropathol. 2010. PMID: 21073837

10

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).

Hong D, Zhang W, Wang W, Wang Z, Yuan Y. Hong D, et al. J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5. J Clin Neurosci. 2011. PMID: 21296577

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