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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. Mancini C, et al. Among authors: chen y. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. BMC Med Genet. 2015. PMID: 25927548 Free PMC article.
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. Mancini C, et al. Among authors: chen y. J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31. J Neurol. 2015. PMID: 25359263 Free article.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, Hakonarson H, Reed DR, Preti G. Guo Y, et al. Among authors: chen y. BMC Med Genet. 2017 Feb 15;18(1):11. doi: 10.1186/s12881-017-0369-8. BMC Med Genet. 2017. PMID: 28196478 Free PMC article.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J. Nafisinia M, et al. Among authors: chen y. JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26. JIMD Rep. 2017. PMID: 27344648 Free PMC article.
FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.
Wang Y, Garraoui A, Zeng L, Lai M, He F, Wang H, Jiang C, Chen Y, Dai L, Fan N, Yang H, Zhang J, Liu X. Wang Y, et al. Among authors: chen y. Oncotarget. 2017 Sep 30;8(49):86718-86725. doi: 10.18632/oncotarget.21415. eCollection 2017 Oct 17. Oncotarget. 2017. PMID: 29156830 Free PMC article.
164,694 results
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