Zobrazeno 1 - 10
of 348
pro vyhledávání: '"WANG Zhao‑xia"'
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 789-797 (2023)
Objective To summarize the clinical manifestations and histopathological characteristics of skeletal muscle in scleromyositis patients with positive anti‑Ku or anti‑PM‑Scl antibodies. Methods and Results Retrospective collection of clinical dat
Externí odkaz:
https://doaj.org/article/518e1962b331406ea2ec797d72d5eabf
Autor:
YUAN Yu‑jing, LIU Chang, XIE Zhi‑ying, ZHAO Ya‑wen, MENG Ling‑chao, LÜ He, WANG Zhao‑xia, YUAN Yun, ZHANG Wei
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 782-788 (2023)
Objective To evaluate the diagnostic value of skeletal muscle biopsy in asymptomatic and pauci‑symptomatic hyperCKemia. Methods and Results A total of 146 patients with asymptomatic or pauci ‑ symptomatic hyperCKemia diagnosed in Peking Universit
Externí odkaz:
https://doaj.org/article/864fbc09da31443fb3dbaf6a5a5ab80a
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 798-806 (2023)
Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene. Methods and Results This study included 4 pat
Externí odkaz:
https://doaj.org/article/46b3023a23c342ae83ab5ac41b2f8414
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 775-781 (2023)
Short tandem repeat (STR) is a component of the human genome, the number of repeats of STR is prone to change during DNA replication, and when it exceeds a certain threshold, it will lead to the occurrence of diseases, most of which involve the nervo
Externí odkaz:
https://doaj.org/article/050f99d5615c415fad22671045bf19a2
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 821-825 (2023)
Externí odkaz:
https://doaj.org/article/5bbf6f25898b46878dc34841debb4dad
Autor:
WAN Ya⁃lan, JIANG Yan⁃yan, ZHOU Hong, ZHENG Yi⁃ming, LÜ He, ZHAO Gui⁃ping, CHEN Jing, SUN Wei, WANG Zhao⁃xia
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 22, Iss 08, Pp 723-728 (2022)
Objective To summarize the clinical, imaging and genetic characteristics of spinocerebellar ataxia 2 (SCA2) families presenting as Parkinsonism. Methods and Results Two families with autosomal dominant SCA2 with Parkinson's syndrome diagnosed by gene
Externí odkaz:
https://doaj.org/article/5c00a761ef944cd599f7e559e89af00d
Autor:
ZHAO Xu⁃tong, WANG Jie, ZHUO Yong⁃jie, WANG Qi, YANG Ying, LIU Lin, DING Wen⁃hui, YUAN Yun, WANG Zhao⁃xia
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 22, Iss 5, Pp 422-428 (2022)
Objective To report the characteristics of cardiac involvement in a group of patients with mitochondrial encephalomyopathy with lactic academia and stroke⁃like episodes (MELAS). Methods A total of 113 patients with MELAS who were admitted to Peking
Externí odkaz:
https://doaj.org/article/d5e6745ef68f48a38c1805f896e35538
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 21, Iss 10, Pp 893-898 (2021)
Objective To report 3 cases of infratentorial superficial siderosis of central nervous system and analyze its etiology and clinical manifestations. Methods and Results The main clinical symptoms were recurrent headache or epilepsy (3 cases) with obvi
Externí odkaz:
https://doaj.org/article/94e7e2b6173246d5a6afede3cbbd0df9
Autor:
WAN Ya⁃lan, WANG Zhao⁃xia
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 21, Iss 06, Pp 519-526 (2021)
Essential tremor (ET) is a common movement disorder. The phenomenon of familial aggregation suggests genetic factors play important role in its etiology. With the rapid development and wide application of gene sequencing technologies, more and more e
Externí odkaz:
https://doaj.org/article/c409d033571542f0a3a1d7edd12cbfd3
Autor:
LI Fan, YU Meng, XIE Zhi⁃ying, WANG Qing⁃qing, LIU Jing, ZHANG Wei, LÜ He, YUAN Yun, WANG Zhao⁃xia
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 21, Iss 3, Pp 204-211 (2021)
Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations an
Externí odkaz:
https://doaj.org/article/ab1337bdc8cd49588bdad203592d305e