Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Lifang Dai"'
Publikováno v:
Pediatric Investigation, Vol 8, Iss 2, Pp 154-156 (2024)
Externí odkaz:
https://doaj.org/article/e8222cb6370547e8844e207cd496699b
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundAs one of the assembly factors of the GATOR1 protein complex in the mechanism of rapamycin pathway, NPRL3 plays an important role in the pathogenesis of epilepsy. However, the correlation between genotype and clinical phenotype in patients
Externí odkaz:
https://doaj.org/article/130ab1e108024045a0c6de051c8b2c3a
Autor:
Hongmei Wang, Jiahong Li, Ji Zhou, Lifang Dai, Changhong Ding, Mo Li, Weixing Feng, Fang Fang, Xiaotun Ren, Xiaohui Wang
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundAromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder with heterogeneous phenotype, including hypotonia, movement disorders, autonomic dysfunction, and developmental delay. Here, we repor
Externí odkaz:
https://doaj.org/article/e457d17537434b9491b0cb7cba8176ec
Autor:
Jing Zhang, Ying Yang, Xueyang Niu, Jiaoyang Chen, Wei Sun, Changhong Ding, Lifang Dai, Liping Zhang, Qi Zeng, Yi Chen, Xiaojuan Tian, Xiaoling Yang, Taoyun Ji, Zhixian Yang, Yanling Yang, Yuwu Jiang, Yuehua Zhang
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-15 (2020)
Abstract Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical
Externí odkaz:
https://doaj.org/article/b90d478449784b048d0748c38568289a
Autor:
Hua Li, Wei Wang, Xiaodi Han, Yujia Zhang, Lifang Dai, Manting Xu, Jie Deng, Changhong Ding, Xiaohui Wang, Chunhong Chen, Xiaofeng Yang, Fang Fang
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Alpers’ syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction. Candidate genes, such as POLG, PARS2, CARS2, FARS2, NARS2, and GABRB2
Externí odkaz:
https://doaj.org/article/606ccbf8419c462f96396255390f21d4
Autor:
Changhong Ren, Haitao Ren, Xiaotun Ren, Weihua Zhang, Jiuwei Li, Lifang Dai, Hongzhi Guan, Fang Fang
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome, cerebellar ataxia, refractory epilepsy, and limbic and extralimbic encephalitis
Externí odkaz:
https://doaj.org/article/5484b4ffd0a34274a4704cca04bf229c
Autor:
Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia Wortmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with
Externí odkaz:
https://doaj.org/article/129e2104cafd486f9cf68aead98de16c
Autor:
Haihua Zhang, Lifang Dai, Na Chen, Lili Zang, Xuerong Leng, Li Du, Jingmin Wang, Yuwu Jiang, Feng Zhang, Xiru Wu, Ye Wu
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0118001 (2015)
Leukoencephalopathy with vanishing white matter (VWM) is one of the most prevalent inherited childhood white matter disorders, which caused by mutations in each of the five subunits of eukaryotic translation initiation factor 2B (EIF2B1-5). In our st
Externí odkaz:
https://doaj.org/article/a50c580ee1ca47b4b7a2a500b0ccfe1f
Autor:
Lifang Dai, Changhong Ding, Xiaojuan Tian, Ming Liu, Yuping Ma, Chunhong Chen, Xiaotun Ren, Hua Li
Publikováno v:
Brain and Development.
Publikováno v:
2023 IEEE 2nd International Conference on Electrical Engineering, Big Data and Algorithms (EEBDA).