Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mao-qiang Tian"'
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
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive. Case presentation We describe a five-month-old boy with CD40LG mut
Externí odkaz:
https://doaj.org/article/c1fbe9f4abc24409b41f021544025303
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, Xiao-Rong, Liu, Si-Mei, Lin, Jie, Wang, Sheng, Luo, Liang-Di, Gao, Xiao-Bin, Chen, Xiao-Yu, Liang, Zhi-Gang, Liu, Na, He, Yong-Hong, Yi, Wei-Ping, Liao
Publikováno v:
CNS neurosciencetherapeuticsREFERENCES.
Etiology of the majority patients with idiopathic partial epilepsy (IPE) remains elusive. We thus screened the potential disease-associated variants in the patients with IPE.Trios-based whole exome sequencing was performed in a cohort of 320 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffeb785c9418a02229a4c1ab98e0f3da
https://pubmed.ncbi.nlm.nih.gov/36514184
https://pubmed.ncbi.nlm.nih.gov/36514184
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
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
In this study, two school-aged children had an acute onset in spring and had the manifestations of fever, headache, vomiting, disturbance of consciousness, purpura and ecchymosis, and positive meningeal irritation sign. There were increases in periph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5db1edd97a2e477057a968258c01ac38
https://pubmed.ncbi.nlm.nih.gov/28899471
https://pubmed.ncbi.nlm.nih.gov/28899471
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