Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Yi-Chu Du"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Sialidosis type 1 (ST-1) is a rare autosomal recessive disorder caused by mutation in the NEU1 gene. However, limited reports on ST-1 patients in the Chinese mainland are available. Methods This study reported the genetic and clin
Externí odkaz:
https://doaj.org/article/77d2637d03f34ebca0c81b0edbb3ac14
Autor:
Quan-Fu Li, Yi Dong, Lu Yang, Juan-Juan Xie, Yin Ma, Yi-Chu Du, Hao-Ling Cheng, Wang Ni, Zhi-Ying Wu
Publikováno v:
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood biomarker is available to assess either disease progression or therapeutic respon
Externí odkaz:
https://doaj.org/article/6a20af7848ef4960a82b9062773fde3a
Background Spinocerebellar ataxia type 1 (SCA1) is the third most common type of spinocerebellar ataxia in China. However, data about Chinese SCA1 patients are limited. This study aims to provide a detailed description of the phenotype and genotype o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::199538fec59f69e2c6d942eb12fe405d
https://doi.org/10.21203/rs.3.rs-1841026/v1
https://doi.org/10.21203/rs.3.rs-1841026/v1
Autor:
Lu Yang, Yi Dong, Yin Ma, Zhi-Ying Wu, Ya-Ru Shao, Wang Ni, Shi-Rui Gan, Quan-Fu Li, Hao-Ling Cheng, Yi-Chu Du
Publikováno v:
Parkinsonism & Related Disorders. 78:116-121
Introduction Due to diverse symptoms of spinocerebellar ataxia type 3 (SCA3) and the high prevalence of SCA3 in China, a more in-depth study of Chinese SCA3 patients in a large cohort is well merited. Methods During the last 10 years, 730 patients an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8f5726c2549085f1cb4d8c70df1730e
https://doi.org/10.1016/j.parkreldis.2020.07.024
https://doi.org/10.1016/j.parkreldis.2020.07.024
Publikováno v:
The Cerebellum. 19:902-906
Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) in ATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d48111e176a4cef7ad190d721037806
https://doi.org/10.1007/s12311-020-01167-x
https://doi.org/10.1007/s12311-020-01167-x
Publikováno v:
Cerebellum (London, England). 19(6)
Spinocerebellar ataxia type 3 (SCA3) is caused by unstable expanded CAG repeats (expCAGs) in ATXN3. Factors associated with intergenerational instability (delta-expCAG) and genetic anticipation in SCA3 have never been reported in Chinese mainland. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f6e5ead58b22dc8615b70e6760bc980
https://pubmed.ncbi.nlm.nih.gov/32676850
https://pubmed.ncbi.nlm.nih.gov/32676850
Autor:
Hao-Ling Cheng, Juan-Juan Xie, Yi-Chu Du, Yin Ma, Zhi-Ying Wu, Yi Dong, Wang Ni, Lu Yang, Quan-Fu Li
Publikováno v:
Molecular Neurodegeneration
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-8 (2019)
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-8 (2019)
Background Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood biomarker is available to assess either disease progression or therapeutic response. Neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fae5dc25069c0ebe11ae1bf9e4cbf714
https://doi.org/10.1186/s13024-019-0338-0
https://doi.org/10.1186/s13024-019-0338-0
Autor:
De-Shan Liu, Yin Ma, Hai-Lin Dong, Dian-Fu Chen, Zhi-Ying Wu, Yi Dong, Hao-Ling Cheng, Wang Ni, Yi-Chu Du, Lu Yang
Publikováno v:
Gene. 779:145495
Objective To investigate whether TGM6 is a specific causative gene for spinocerebellar ataxia type 35 (SCA35). Materials and Methods The next-generation sequencing (NGS) data consisted of 47 SCA, 762 non-SCA patients and 2827 normal controls were ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd29d048bd85a1faf1ec860ad69fa89d
https://doi.org/10.1016/j.gene.2021.145495
https://doi.org/10.1016/j.gene.2021.145495
Aim To characterize the mutations in mitochondrial DNA (mtDNA) and mitochondrion-related nuclear genes (nDNA), and clinical features in Chinese patients with mitochondrial ataxia. Methods Targeted next-generation sequencing (NGS) technology was perfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::403040269c868a753138cb8eeb983bb1
https://europepmc.org/articles/PMC6436592/
https://europepmc.org/articles/PMC6436592/