Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Xiao-mei Shu"'
Autor:
Ren-Ke Li, Yu-Rong Xiong, Shu-Jing Pan, Wen-Ting Lei, Xiao-Mei Shu, Xiao-Qi Shi, Mao-Qiang Tian
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
PurposeThe TRAK1 gene is mapped to chromosome 3p22.1 and encodes trafficking protein kinesin binding 1. The aim of this study was to investigate the genotype–phenotype of TRAK1-associated epilepsy.MethodsTrio-based whole-exome sequencing was perfor
Externí odkaz:
https://doaj.org/article/39bb82e52fbf41bcaf163f5d5456e924
Autor:
Mao‐Qiang Tian, Juan Li, Xiao‐Mei Shu, Chang‐Hui Lang, Jing Chen, Long‐Ying Peng, Wen‐Ting Lei, Chang‐Jian Yang
Publikováno v:
Synapse. 77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b723181364ba2620955f1cd21599bc4
https://doi.org/10.1002/syn.22270
https://doi.org/10.1002/syn.22270
Autor:
Mao‐Qiang Tian, Ren‐Ke Li, Fan Yang, Xiao‐Mei Shu, Juan Li, Jing Chen, Long‐Ying Peng, Xiao‐Hua Yu, Chang‐Jian Yang
Publikováno v:
CNS neurosciencetherapeuticsREFERENCES. 29(1)
Genotype-phenotypic correlation of KCNH1 variant remains elusive. This study aimed to expand the phenotypic spectrum of KCNH1 and explore the correlations between epilepsy and molecular sub-regional locations.We performed whole-exome sequencing in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd7c55e06fa48b0937b160e3bafd12c
https://pubmed.ncbi.nlm.nih.gov/36285361
https://pubmed.ncbi.nlm.nih.gov/36285361
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 24(8)
A boy, aged 1 year and 7 months, was hospitalized due to weakness in both lower limbs and blepharoptosis, which showed progressive aggravation and developed into irregular breathing. Neurological examinations showed lethargy, blepharoptosis, grade 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f400f96478e7a7acfd0b152041c4f06
https://pubmed.ncbi.nlm.nih.gov/36036132
https://pubmed.ncbi.nlm.nih.gov/36036132
Autor:
Xiao-Mei Shu
Publikováno v:
Journal of Hainan Medical University, Vol 23, Iss 19, Pp 97-100 (2017)
Objective: To study the expression of mir-29c, mir-200a and mir-145 in endometrial tissue and analyze the downstream molecules in infertile patients with endometriosis. Methods: Female patients with infertility caused by endometriosis who were treate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::2a0fec07f90e6cc79e0306fcecb0d328
http://www.hnykdxxb.com/PDF/201719/24.pdf
http://www.hnykdxxb.com/PDF/201719/24.pdf
Publikováno v:
Neuropediatrics. 46:424-427
In this report, we describe a three-generation family (the Gelao nationality, a minority ethnic group from Guizhou Province in the southwest China) with one affected member with Charcot-Marie-Tooth neuropathy X type 1 (CMTX1) in each generation. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2a76a648bcd286971400682d8b2883
https://doi.org/10.1055/s-0035-1564619
https://doi.org/10.1055/s-0035-1564619
Publikováno v:
Zhongguo Dang Dai Er Ke Za Zhi
Childhood polyarteritis nodosa (PAN) is a rare systemic vasculitis and the delayed diagnosis and treatment will cause high incidence of sequelae and high mortality. This article reports a girl with childhood PAN due to posterior reversible encephalop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6ff83b5b40aa3d4039bcc6abfc762283
https://pubmed.ncbi.nlm.nih.gov/28697838
https://pubmed.ncbi.nlm.nih.gov/28697838
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 17(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c42f01bcd564f5f75293dd5add2f1c5f
https://pubmed.ncbi.nlm.nih.gov/26108315
https://pubmed.ncbi.nlm.nih.gov/26108315
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 12(7)
To study and compare the clinical and electroencephalography (EEG) features in children with benign occipital epilepsy (BOE) of Gastaut and Panayiotopoulos types.The clinical data of 23 children with BOE (16 Gastaut type and 7 Panayiotopoulos type) w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27cc203b5e623f40e747768e01f60bad
https://pubmed.ncbi.nlm.nih.gov/20637148
https://pubmed.ncbi.nlm.nih.gov/20637148
Publikováno v:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 11(6)
The efficacy and adverse effects of conventional dose and low dose adrenocorticotrophic hormone (ACTH) therapy for West syndrome (WS) were compared in order to identify a low effective dose with few adverse effects.A prospective randomized controlled
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e76659c9e7ef9e1498f06532ea147f4
https://pubmed.ncbi.nlm.nih.gov/19558807
https://pubmed.ncbi.nlm.nih.gov/19558807