Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Mubalake Yilihamu"'
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Heterozygous autosomal-dominant FIG4 mutations are associated with amyotrophic lateral sclerosis (ALS). Here, we describe a variant of the FIG4 gene (c.350dupC, p.Asp118GlyfsTer9) in a patient with rapidly progressive ALS that has not previously been
Externí odkaz:
https://doaj.org/article/ca7d90a00784439cbef5e4016e2c561b
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have recently been found to be one of the most frequent causes of autosomal recessive axonal Charcot-Marie-Tooth (CMT2) and distal hereditary motor neuropathy (dHMN). This study was perfor
Externí odkaz:
https://doaj.org/article/eb7d4815b9a549ffb742845943dd2403
Publikováno v:
Journal of clinical medicine. 11(22)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Recently a juvenile ALS patient was reported carrying the c.757delG mutation of the sorbitol dehydrogenase (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dda18e727df40030630e9f286095f23e
https://pubmed.ncbi.nlm.nih.gov/36431311
https://pubmed.ncbi.nlm.nih.gov/36431311
Autor:
Lu Xu, Fan Wang, Danyang Tian, Shengfeng Wang, Kailin Xia, Mubalake Yilihamu, Zhou Yu, Can Sun, Jingyue Ma, Lu Tang, Siyan Zhan, Lin Jiao, Gaoqi Zhang, Dongsheng Fan, Lu Chen, Yixuan Zhang, Jiayu Fu, Gan Zhang, Yajun Wang
Publikováno v:
European Journal of Neurology. 28:2893-2900
BACKGROUND AND PURPOSE The aim was to determine the transitional patterns in the clinical characteristics, treatments and comorbidities in amyotrophic lateral sclerosis (ALS) patients over the past 14 years using data from a large clinical cohort in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bceefe040578cf76567b766bf90fe9d
https://doi.org/10.1111/ene.14943
https://doi.org/10.1111/ene.14943
Publikováno v:
Neurobiology of Aging. 102:224.e1-224.e3
To detect the mutation frequency of exon 4 of amyotrophic lateral sclerosis (ALS) in a new disease-causing gene, GLT8D1 (NM_018446), in Chinese patients, we used whole-exome sequencing technology to screen the full-length GLT8D1 gene in 539 Chinese s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d559f96d099ac9a258de6d1a6cc4384
https://doi.org/10.1016/j.neurobiolaging.2021.01.028
https://doi.org/10.1016/j.neurobiolaging.2021.01.028
Autor:
Yu Z; Department of Neurology, Peking University Third Hospital, Beijing 100191, China., Sun AP; Department of Neurology, Peking University Third Hospital, Beijing 100191, China., Ma Y; Department of Neurology, Peking University Third Hospital, Beijing 100191, China., Huang X; Department of Neurology, Peking University Third Hospital, Beijing 100191, China., Mubalake Y; Department of Neurology, Peking University Third Hospital, Beijing 100191, China., Fan DS; Department of Neurology, Peking University Third Hospital, Beijing 100191, China.
Publikováno v:
Zhonghua nei ke za zhi [Zhonghua Nei Ke Za Zhi] 2020 Oct 01; Vol. 59 (10), pp. 818-819.