Yu H - Search Results

1

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease.

Dong Y, Wang RM, Yang GM, Yu H, Xu WQ, Xie JJ, Zhang Y, Chen YC, Ni W, Wu ZY. Dong Y, et al. Among authors: yu h. Clin Gastroenterol Hepatol. 2021 Mar;19(3):590-596. doi: 10.1016/j.cgh.2020.05.044. Epub 2020 May 30. Clin Gastroenterol Hepatol. 2021. PMID: 32485301

2

Clinical features and outcome in patients with osseomuscular type of Wilson's disease.

Yu H, Xie JJ, Chen YC, Dong QY, Dong Y, Ni W, Wu ZY. Yu H, et al. BMC Neurol. 2017 Feb 17;17(1):34. doi: 10.1186/s12883-017-0818-1. BMC Neurol. 2017. PMID: 28212618 Free PMC article.

3

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

Yu H, Chen YC, Liu GL, Wu ZY. Yu H, et al. Chin Med J (Engl). 2017 Oct 5;130(19):2273-2278. doi: 10.4103/0366-6999.215338. Chin Med J (Engl). 2017. PMID: 28937030 Free PMC article.

4

Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.

Chen YC, Yu H, Wang RM, Xie JJ, Ni W, Zhang Y, Dong Y, Wu ZY. Chen YC, et al. Among authors: yu h. Parkinsonism Relat Disord. 2019 May;62:128-133. doi: 10.1016/j.parkreldis.2019.01.001. Epub 2019 Jan 2. Parkinsonism Relat Disord. 2019. PMID: 30655162

5

A cephalometric study in patients with Wilson's disease.

Zhang Y, Yu H, Bao W, Ni W, Dong Y, Wu ZY. Zhang Y, et al. Among authors: yu h. J Clin Neurosci. 2019 Sep;67:105-108. doi: 10.1016/j.jocn.2019.06.010. Epub 2019 Jun 19. J Clin Neurosci. 2019. PMID: 31229425

6

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX, Dong HL, Wei Q, Li LX, Yu H, Li JQ, Liu GL, Li HF, Bai G, Ma H, Wu ZY. Chen CX, et al. Among authors: yu h. Clin Genet. 2019 Nov;96(5):439-448. doi: 10.1111/cge.13616. Epub 2019 Aug 8. Clin Genet. 2019. PMID: 31372974

7

Clinical features and outcome of Wilson's disease with generalized epilepsy in Chinese patients.

Wang RM, Yu H, Yang GM, Xu WQ, Xia N, Zhang Y, Ni W, Dong Y, Wu ZY. Wang RM, et al. Among authors: yu h. CNS Neurosci Ther. 2020 Aug;26(8):842-850. doi: 10.1111/cns.13373. Epub 2020 Apr 13. CNS Neurosci Ther. 2020. PMID: 32281751 Free PMC article.

8

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.

Dong HL, Li JQ, Liu GL, Yu H, Wu ZY. Dong HL, et al. Among authors: yu h. NPJ Genom Med. 2021 Jan 4;6(1):1. doi: 10.1038/s41525-020-00165-6. NPJ Genom Med. 2021. PMID: 33397963 Free PMC article.

9

Spermatorrhea in a Chinese patient with temporal lobe epilepsy: a case report.

Zhang L, Yu H, Li D, Qian H, Chen Y. Zhang L, et al. Among authors: yu h. J Int Med Res. 2021 Jan;49(1):300060520982814. doi: 10.1177/0300060520982814. J Int Med Res. 2021. PMID: 33445995 Free PMC article.

10

Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.

Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY. Dong HL, et al. Among authors: yu h. Brain. 2021 Sep 4;144(8):2457-2470. doi: 10.1093/brain/awab135. Brain. 2021. PMID: 33751098

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