Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

S Zeng, M Zhang, X Wang, Z Hu, J Li, N Li… - Journal of medical …, 2019 - jmg.bmj.com
Background The locus for familial cortical myoclonic tremor with epilepsy (FCMTE) has long
been mapped to 8q24 in linkage studies, but the causative mutations remain unclear …

[HTML][HTML] Energy restriction induced SIRT6 inhibits microglia activation and promotes angiogenesis in cerebral ischemia via transcriptional inhibition of TXNIP

MY Song, F Yi, H Xiao, J Yin, Q Huang, J Xia… - Cell Death & …, 2022 - nature.com
Energy restriction (ER) protects against cerebral ischemic injury, but the underlying
mechanism remains largely unclear. Here, rats were fed ad libitum (AL) or on an alternate …

TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study

WT Tian, FX Zhan, ZH Liu, Z Liu, Q Liu… - Movement …, 2022 - Wiley Online Library
Background Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of
paroxysmal dyskinesias. Only one‐third of PKD patients are attributed to proline‐rich …

Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene

XM Yin, JH Lin, L Cao, TM Zhang, S Zeng… - Human molecular …, 2018 - academic.oup.com
Paroxysmal kinesigenic dyskinesia (PKD) is a heterogeneous movement disorder
characterized by recurrent dyskinesia attacks triggered by sudden movement. PRRT2 has …

The phenotypic and genetic spectrum of paroxysmal kinesigenic dyskinesia in China

XJ Huang, SG Wang, XN Guo, WT Tian… - Movement …, 2020 - Wiley Online Library
Background Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic
disorders with high clinical and genetic heterogeneity. Mutations in proline‐rich …

[HTML][HTML] Comparison of logistic regression, information value, and comprehensive evaluating model for landslide susceptibility mapping

RX Tang, EC Yan, T Wen, XM Yin, W Tang - Sustainability, 2021 - mdpi.com
This study validated the robust performances of the recently proposed comprehensive
landslide susceptibility index model (CLSI) for landslide susceptibility mapping (LSM) by …

Proline‐rich transmembrane protein 2negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients

WT Tian, XJ Huang, X Mao, Q Liu, XL Liu… - Movement …, 2018 - Wiley Online Library
Background: Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal
dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide …

Brady‐arrhythmias in patients with atrial fibrillation and heart failure of reduced ejection fraction: is his‐bundle pacing superior to biventricular pacing?

P Ma, Y Yang, B Dai, R Zhang, N Wang… - Pacing and Clinical …, 2021 - Wiley Online Library
Objective To investigate the efficacy and safety of His‐bundle pacing (HBP) compared with
the traditional biventricular pacing (BVP) on patients with brady‐arrhythmias, who suffer from …

[HTML][HTML] Homozygous PIGT mutation lead to multiple congenital anomalies-hypotonia seizures syndrome 3

L Yang, J Peng, XM Yin, N Pang, C Chen, TH Wu… - Frontiers in …, 2018 - frontiersin.org
PIGT encodes a subunit of the glycosylphosphatidylinositol transamidase complex, which
catalyzes the attachment of proteins to GPI-anchors. A homozygous PIGT variant c. 550G> A …

Comparison of cryoballoon ablation for atrial fibrillation guided by real-time three-dimensional transesophageal echocardiography vs. contrast agent injection

YJ Sun, XM Yin, T Cong, LJ Gao, D Chang… - Chinese medical …, 2019 - mednexus.org
Background: Pulmonary vein (PV) occlusion generally depends on repetitive contrast agent
injection when cryoballoon ablation for atrial fibrillation (AF). The present study was to …