Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yuehuan, Zuo"'
Autor:
Yuehuan Zuo, Lingchao Meng, Rui Wu, He Lv, Zhaoxia Wang, Yuanyuan Lu, Yun Yuan, Jing Liu, Wei Zhang
Publikováno v:
Clinical Neuropathology. 37:232-238
Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes. Here, we report on two Han Chinese patients with HADHB mutation-associated infantile axonal Charcot-Marie-Tooth disease (IACMT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::019e609ac3460f74fe4ce0fb3e672dd1
https://doi.org/10.5414/np301097
https://doi.org/10.5414/np301097
Autor:
Wei Zhang, Xiao Liu, Ying Zhu, Yun Yuan, Zhaoxia Wang, Yuehuan Zuo, Jing Liu, Hui-Ting Lin, Jiangxi Xiao
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 12, Pp 1472-1479 (2018)
Background: LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22244d32be446309d76b58ffb9e0d84
https://doi.org/10.4103/0366-6999.233957
https://doi.org/10.4103/0366-6999.233957
Publikováno v:
Chinese Medical Journal, Vol 130, Iss 9, Pp 1049-1054 (2017)
Chinese Medical Journal
Chinese Medical Journal
Background: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8aa817f41e29cb2962702f615808b5d
http://www.cmj.org/article.asp?issn=0366-6999
http://www.cmj.org/article.asp?issn=0366-6999
Autor:
Lei Yu, Jing Liu, Yuehuan Zuo, Wei Zhang, Jiangxi Xiao, Qingqing Wang, Zhe Zhang, Meng Yu, Zhaoxia Wang, Yun Yuan
Publikováno v:
Chinese Medical Journal, Vol 129, Iss 12, Pp 1419-1424 (2016)
Chinese Medical Journal
Chinese Medical Journal
Background: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd09c47c242fed4d9fc080179981f2a
https://doi.org/10.4103/0366-6999.183417
https://doi.org/10.4103/0366-6999.183417
Publikováno v:
Journal of the Neurological Sciences. 358:153-157
Background Charcot–Marie–Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 ( MFN2 ). CMT2A had a large variety of clinical symptoms and several cohort studies were published recently. This study is to summarized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acb07a57dec501aa774953bb11626df
https://doi.org/10.1016/j.jns.2015.08.1528
https://doi.org/10.1016/j.jns.2015.08.1528
Autor:
Yuehuan Zuo, Xiao Liu, Yining Huang, Wei Sun, Zhaoxia Wang, Jiangxi Xiao, He Lv, Yun Yuan, Wei Zhang
Publikováno v:
Journal of the Neurological Sciences. 354:63-69
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small artery disease caused by NOTCH3 gene mutation. Here we report clinical, pathological and genetic profiles of 29 newly-diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc01ff04cc540f8daf007e58343d7900
https://doi.org/10.1016/j.jns.2015.04.047
https://doi.org/10.1016/j.jns.2015.04.047
Publikováno v:
BioMed Research International, Vol 2017 (2017)
BioMed Research International
BioMed Research International
Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b94fa30af51cfcaf575508367f289cd
Autor:
Wei, Zhang, Mande, Kang, Yawen, Zhao, Fan, Li, Junlong, Shu, Yuehuan, Zuo, Jing, Liu, Yining, Huang, Yun, Yuan
Publikováno v:
Zhonghua yi xue za zhi. 95(23)
To investigate incidence and clinical features of multiple organ involvement in Chinese patients with Fabry disease.We collected 151 patients of 31 families with Fabry disease, all of whom were confirmed by classic pathology, decreased α-galactosida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::13c6625975d102abbe2a6c423b584efd
https://pubmed.ncbi.nlm.nih.gov/26712400
https://pubmed.ncbi.nlm.nih.gov/26712400