Yan C - Search Results

1

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.

Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z. Deng J, et al. Among authors: yan c. Am J Hum Genet. 2020 Jun 4;106(6):793-804. doi: 10.1016/j.ajhg.2020.04.011. Epub 2020 May 14. Am J Hum Genet. 2020. PMID: 32413282 Free PMC article.

2

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.

Lu H, Luan X, Yuan Y, Dong M, Sun W, Yan C. Lu H, et al. Among authors: yan c. Neuropathology. 2008 Dec;28(6):599-603. doi: 10.1111/j.1440-1789.2008.00924.x. Epub 2008 May 23. Neuropathology. 2008. PMID: 18503509

3

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.

Li H, Chen Q, Liu F, Zhang X, Liu T, Li W, Liu S, Zhao Y, Wen B, Dai T, Lin P, Gong Y, Yan C. Li H, et al. Among authors: yan c. J Hum Genet. 2011 Apr;56(4):335-8. doi: 10.1038/jhg.2011.15. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307865

4

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.

Lin P, Li W, Wen B, Zhao Y, Fenster DS, Wang Y, Gong Y, Yan C. Lin P, et al. Among authors: yan c. J Hum Genet. 2012 Oct;57(10):679-81. doi: 10.1038/jhg.2012.84. Epub 2012 Jul 26. J Hum Genet. 2012. PMID: 22832386

5

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.

Shan J, Chen B, Lin P, Li D, Luo Y, Ji K, Zheng J, Yuan Y, Yan C. Shan J, et al. Among authors: yan c. Neuromolecular Med. 2014 Dec;16(4):782-6. doi: 10.1007/s12017-014-8327-5. Epub 2014 Oct 5. Neuromolecular Med. 2014. PMID: 25283883

6

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.

Lin P, Zhang D, Xu G, Yan C. Lin P, et al. Among authors: yan c. J Hum Genet. 2018 Apr;63(4):521-524. doi: 10.1038/s10038-017-0394-7. Epub 2018 Jan 23. J Hum Genet. 2018. PMID: 29362493

7

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.

Zhang W, Wen B, Lu J, Zhao Y, Hong D, Zhao Z, Zhang C, Luo Y, Qi X, Zhang Y, Song X, Zhao Y, Zhao C, Hu J, Yang H, Wang Z, Yan C, Yuan Y. Zhang W, et al. Among authors: yan c. Orphanet J Rare Dis. 2019 Oct 26;14(1):234. doi: 10.1186/s13023-019-1209-z. Orphanet J Rare Dis. 2019. PMID: 31655616 Free PMC article.

8

Distal myopathy due to TCAP variants in four unrelated Chinese patients.

Lv X, Gao F, Dai T, Zhao D, Jiang W, Geng H, Liu F, Lin P, Yan C. Lv X, et al. Among authors: yan c. Neurogenetics. 2021 Mar;22(1):1-10. doi: 10.1007/s10048-020-00623-4. Epub 2020 Aug 6. Neurogenetics. 2021. PMID: 32761539

9

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.

Zhong H, Zheng Y, Zhao Z, Lin P, Xi J, Zhu W, Lin J, Lu J, Yu M, Zhang W, Lv H, Yan C, Hu J, Wang Z, Lu J, Zhao C, Yuan Y, Luo S. Zhong H, et al. Among authors: yan c. J Med Genet. 2021 Nov;58(11):729-736. doi: 10.1136/jmedgenet-2020-107159. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994280

10

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H. Song D, et al. Among authors: yan c. Clin Genet. 2021 Mar;99(3):384-395. doi: 10.1111/cge.13886. Epub 2021 Jan 19. Clin Genet. 2021. PMID: 33200426

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